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NGS Target Enrichment Panels - Human Genetics


Forensic  |   Human Cancer   |   Human Genetics  |   Microbiology & Diagnostics   |   More Panels


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General Panels

iGene Personal Health and Disease Risk Panel

The iGene Personal Health and Disease Risk Panel provides an accurate assessment of one’s personal health risks in cardiac diseases, major cancer syndromes, and potential pharmacogenetic reactions to a host of common medications. It provides actionable genetic information to health professionals in determining an individual’s clinical management options. Assessment is based on the most up-to-date clinical research data, the patient’s personal medical history, and genetic testing results.
The iGene Personal Health and Disease Risk Panel includes genes from the following panels: iGene Cancer Panel, iGene Cardiac Panel, and iGene Pharamcogenomics Panel.
Source: ApolloGen

Ion AmpliSeq™ Transcriptome Human Gene Expression Kit

The Ion AmpliSeq™ Transcriptome Human Gene Expression Kit enables the simultaneous measurement of the expression levels of over 20,000 human RefSeq genes in a single assay. Providing the ability to work directly with low input levels of total RNA derived from challenging samples such as formalin-fixed paraffin-embedded (FFPE) tissue or other samples with degraded RNA, the Ion AmpliSeq™ Transcriptome Human Gene Expression Kit is ideal for those interested in obtaining comprehensive, highly sensitive, and easily obtained gene expression measurements from a wide range of RNA sources.
Source: Thermo Fisher

Website

NGS panel for hereditary diseases

This NGS panel targets 552 genes associated with different disorders related to:
- Cardiology
- Dermatology
- Rare diseases
- Endocrinology
- Pharmacogenomics
- Gastroenterology
- Hematology
- Nephrology
- Neurology
- Oncology
- Otorhinolaryngology
- Pediatrics
- Pulmonology/Pneumology
- Human identity
- Dental Medicine
- Reproductive Medicine
- Dysmorphology
- Metabolic Diseases

Source: CGC Genetics

Pan-Ethnic Carrier Screen: Targeted Mutation Panel

This component of the Pan-Ethnic Carrier Screen tests for 690 pathogenic variants in 136 genes, as well as full gene deletion and duplication analysis for 3 genes (CFTR, HBA1, and HBA2) causing autosomal recessive conditions. It is the most extensive carrier screen to date and includes conditions of mobility, developmental delay, visual impairment, hearing loss, intellectual disability, skin irregularities, joint and bone disorders, abnormalities of the nervous system, and numerous metabolic syndromes. None of these conditions has a cure, but some can be well managed with diet or medication (e.g. PKU or biotinidase deficiency). Many of these conditions, however, can result in a shortened lifespan or require continued medical care (e.g. Tay-Sachs disease or cystic fibrosis).
Source: Emory Genetics Laboratory

Recessive genetic diseases (NGS panel)

NGS panel targeting 100 genes associated with disorders related to:

- Cardiology
- Dermatology
- Rare diseases
- Endocrinology
- Pharmacogenomics
- Gastroenterology
- Hematology
- Nephrology
- Neurology
- Obstetrics / Gynecology
- Oncology
- Otorhinolaryngology
- Pediatrics
- Pulmonology/Pneumology
- Human identity
- Dental Medicine
- Reproductive Medicine
- Dysmorphology
- Metabolic Diseases

Source: CGC Genetics

Severe Recessive Childhood Diseases

NGS panel diagnostics in cases of severe recessive childhood diseases (Kingsmore Panel)
The Kingsmore Panel includes analysis of 437 genes, mutations in which cause 448 severe recessive diseases manifesting in childhood. The genes analyzed are chosen and evaluated by experts inter alia according to the recommendations of the American College of Medical Genetics (ACMG) (Criteria were e.g., high penetrance, sufficient published data regarding clinical sensitivity / specificity, functional studies, pathogenic mutations found in more than one family, etc.). After targeted enrichment, genes are analyzed using next-generation sequencing (NGS) technology.
Source: Medical Genetics Center

SureSelect Human Kinome XT Kit

Agilent SureSelect DNA panels are predefined designs which focus on targeted gene sets for specific applications. Agilent offers two human panels, the SureSelect Human Kinome panel and SureSelect X-Chromosome panel. The SureSelect Human DNA Kinome panel targets a comprehensive set of kinases and kinase related genes for enrichment, targeting over 500 kinases and 612 genes. The SureSelect X-Chromosome panel targets all of the genes on the X chromosome.
Source: Agilent

Website

TruSight One

The TruSight One sequencing panel provides clinical genomics research laboratories with an affordable solution for managing a diverse assay portfolio. Developed by Illumina, the TruSight One sequencing panel provides comprehensive coverage of > 4,800 clinically relevant genes. Laboratories can analyze all of the genes on the panel or choose to focus on a specific subset. Use of this panel enables expansion of existing menus, streamlining of workflows, or creation of an entire portfolio of sequencing options. The result is increased productivity, reduced handling errors, decreased laboratory costs, and consistent reporting.
Source: Illumina

Website


Amelogenesis Imperfecta

Amelogenesis Imperfecta NGS Panel

Targeted Genes: AMELX, BMP1, COL1A1, COL1A2, CRTAP, DLX3, DSPP, ENAM, FAM20A, FAM83H, FKBP10, IFITM5, KLK4, MMP20, P3H1, PPIB, SERPINF1, SERPINH1, SP7, WDR72
Source: Fulgent Diagnostics


Apoptosis

Ion AmpliSeq™ RNA Apoptosis Panel

The Ion AmpliSeq™ RNA Apoptosis Panel is a screening tool designed against 267 genes involved in the cellular apoptosis pathway. Included are genes associated with death receptor-mediated apoptosis, c-Myc, and p53-mediated apoptosis.
Source: Thermo Fisher

Website

TruSeq Targeted RNA Expression Apoptosis Panel

The TruSeq Targeted RNA Expression Apoptosis Panel is a predesigned gene expression profiling solution for studying apoptosis, or programmed cell death. The panel includes assays targeting 117 commonly studied pro-apoptotic and anti-apoptotic genes. All TruSeq Targeted RNA fixed panels are experimentally validated to ensure strong correlation with RNA sequencing.
Source: Illumina

Website


ATP Metabolism

MODY MASTR assay

A ready-to-use molecular assay for early detection of mutations in ABCC8, GCK, HNF1A, HNF4A, HNF1B, INS and KCNJ11 by massively parallel sequencing. The MODY MASTR assay amplifies the entire coding regions of the ABCC8, GCK, HNF1A, HNF4A, HNF1B, INS and KCNJ11 genes. The assay contains 118 amplicons (280-430 bp), including control amplicons for evaluation of copy number variations in 5 multiplex PCR reactions.
Source: Multiplicom

Website

STARGARDT MASTR assay

The STARGARDT MASTR assay amplifies the coding regions of the ABCA4, ELOVL4 AND CNGB3 genes. The assay contains 91 amplicons (300-430 bp) amplified in 4 multiplex PCR reactions. This assay also contains control amplicons for evaluation of copy number variations.
Source: Multiplicom

Website


Autism

Autism NGS Panel

Targeted Genes: (100) ANKRD11, AP1S2, ARX, ATRX, AUTS2, AVPR1A, BDNF, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CNTNAP5, CREBBP, DHCR7, DLGAP2, DMD, DOCK4, DPP10, DPP6, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, GABRG1, GNA14, GRIN2B, GRPR, HOXA1, HPRT1, IMMP2L, KATNAL2, KCTD13, KDM5C, KIRREL3, KLHL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MET, MID1, NEGR1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PCDH9, PDE10A, PHF6, PIP5K1B, PNKP, PON3, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAI1, RBFOX1, RELN, RPL10, SATB2, SCN1A, SCN2A, SHANK2, SHANK3, SLC6A4, SLC9A6, SLC9A9, SMC1A, SMG6, SNRPN, SOX5, SPAST, ST7, STK3, TCF4, TSC1, TSC2, UBE3A, VPS13B, ZEB2, ZNF507, ZNF804A, ZNHIT6
Source: Fulgent Diagnostics

Autism Panel

Next generation sequencing using Illumina NextSeq 500 technology of the 107 autism-associated genes:
ADSL, AFF2, ANKRD11, AP1S2, ARX, ATRX, AUTS2, AVPR1A, BDNF, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CNTNAP5, CREBBP, DHCR7, DLGAP2, DMD, DOCK4, DPP10, DPP6, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, GABRG1, GNA14, GRIN2B, GRPR, HOXA1, HPRT1, IMMP2L, KATNAL2, KCTD13, KDM5C, KIRREL3, KLHL3, L1CAM, LAMC3, MAGEL2, MBD5, MECP2, MED12, MEF2C, MET, MID1, NEGR1, NHS, NIPBL, NLGN3, NLGN4X, NR1I3, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PCDH9, PDE10A, PHF6, PIP5K1B, PNKP, PON3, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAI1, RBFOX1, RELN, RPL10, SATB2, SCN1A, SCN2A, SHANK2, SHANK3, SLC2A1, SLC6A4, SLC9A6, SLC9A9, SMARCB1, SMC1A, SMG6, SNRPN, SOX5, SPAST, ST7, STK3, TCF4, TSC1, TSC2, UBE2A, UBE3A, VPS13B, ZEB2, ZNF507, ZNF804A, ZNHIT6
Source: Knight Diagnostic Laboratories

Autism Spectrum Disorder Panel

Autism spectrum disorder (ASD) is a general term that describes a group of clinically heterogeneous disorders characterized by lack of verbal communication, reciprocal social interaction or responsiveness, and restricted, routine patterns of behavior and interests. Currently, three subgroups, autistic disorder, Asperger syndrome, and pervasive developmental disorder-not otherwise specified (PDD-NOS), are recognized.
The ApolloGen’s Autism Spectrum Disorder Panel inspects 101 genes that have been reported in the Online Mendelian Inheritance in Man (OMIM) database on autism and autism-related disorders, or recently reported as disease-causing genes that result in developmental delay.
Source: ApolloGen

Autism spectrum disorders panel

Targeted genes: EN2, MECP2, NLGN3, NLGN4X, PDE8B, RPL10

Source: Centogene

TruSight Autism

TruSight Autism includes genes reported in the Online Mendelian Inheritance in Man (OMIM) database on autism; genes with recurrent mutations resulting in developmental delays1–3; genes with reported mutations as found in case studies involving developmental delay characteristics; and genes from summaries of autism-relevant genes (e.g., AutismKB4). Genes neighboring strong association signals were excluded in the absence of published reports of mutations.
Source: Illumina

Website


Bone, Skeletal and Joint System

Arthrogryposis panel

Targeted genes: TPM2, MYBPC1, MYH3, TNNT3, TNNI2, MYH8, FBN2, PIEZO2, ECEL1, DOK7, RAPSN

Source: Centogene

Bone Marrow Failure Sequencing

Preferred test for molecular confirmation of hereditary bone marrow failure.
35 Genes tested: BRCA2, BRIP1, CTC1, DKC1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FNCL, FANCM, GATA1, NHP2, NOP10, PALB2, RPL5, RPL11, RPL26, RPL35A, RPS7, RPS10, RPS15, RPS17, RPS19, RPS24, RPS26, SBDS, SLX4, TERC, TERT, TINF2, WRAP53
Source: Arup Laboratories

Cranioectodermal dysplasia (NGS panel)

Targeted genes: WDR35, IFT122, WDR19, IFT43

Source: CGC Genetics

CRANIOFACIAL SEQUENCING PANEL

Targeted Genes
ALX1 ALX3 ALX4 EFNB1 ERF FAM20C FGFR1 FGFR2 FGFR3 GLI3 IFT122 IFT43 MSX2 POR RAB23 RECQL4 RUNX2 TCF12 TWIST1 WDR19 WDR35

Disorders
Craniosynostosis, Cranioectodermal dysplasia, Frontonasal dysplasia

Source: UCGS

Craniosynostosis

Targeted genes: FGFR1, FGFR2, FGFR3, TWIST1

Source: CGC Genetics

Craniosynostosis (NGS panel)

Targeted genes (30): ALPL, ALX4, BMP4, EFNB1, ERF, ESCO2, FGFR1, FGFR2, FGFR3,FREM1, GLI3,IFT122,IFT140,IL11RA,IMPAD1,IRX5,MASP1,MEGF8, POR, RAB23, RECQL4, SCARF2, SKI, TCF12, TGFBR1, TGFBR2, TMCO1, TWIST, WDR19, WDR35

Source: CGC Genetics

Craniosynostosis and craniofacial disorders panel

Targeted genes: EFNB1, ERF, FGFR1, FGFR2, FGFR3, FREM1, GLI3, IFT43, IFT122, IL11RA, MEGF8, MSX2, POR, RAB23, RECQL4, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, WDR19, WDR35

Source: Centogene

Distal Arthrogryposis Syndromes NGS Panel

Targeted Genes: MYH3, TNNI2, TNNT3, TPM2
Source: Fulgent Diagnostics

Ellis Van Creveld syndrome (NGS panel)

"Ellis-van Creveld syndrome is an inherited disorder of bone growth that results in very short stature (dwarfism)."

Targeted genes: DYNC2H1, EVC, EVC2, IFT140, IFT172, IFT80, NEK1, TTC21B, WDR19, WDR34, WDR35, WDR60

Source: CGC Genetics

Invitae Bone Marrow Failure Syndromes Panel

The Invitae Bone Marrow Failure Syndromes Panel analyzes 39 genes that are associated with hereditary bone marrow failure. Many of these genes are also associated with disorders that typically present with other hematological and physical findings.
Source: Invitae

Metaphyseal dysplasia panel

Targeted genes: ANKH, CDKN1C, FLNA, MMP9, MMP13, NKX3-2, RMRP, RUNX2

Source: Centogene

Osteogenesis imperfecta (NGS panel)

Targeted genes (16): BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FKBP10, IFITM5, P3H1 , PLOD2, PLS3, PPIB, SERPINF1, SERPINH1, SP7, TMEM38B, WNT1

Source: CGC Genetics

Osteogenesis imperfecta and low bone density disorders

Targeted genes: ALPL, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FKBP10, IFITM5, LEPRE1, LRP5, PLOD2, PLS3, PPIB, SERPINF1, SERPINH1, SP7, TMEM38B, WNT1

Source: Centogene

Osteopetrosis and high bone density disorders panel

Targeted genes: ANKH, CA2, CLCN7, COL1A1, GJA1, HPGD, LRP5, MTAP, OSTM1, PLEKHM1, PTDSS1, SLCO2A1, SNX10, SOST, TBXAS1, TCIRG1, TGFB1, TNFRSF11A, TNFRSF11B, TNFSF11, TYROBP

Source: Centogene

PAGET-COMPLETE™

In Paget’s the delicate balance of bone resorption and bone formation is tilted. Osteoclasts (bone eating cells) are pathologic, which leads to increased bone resorption, and bone formation cannot keep the pace with it.
In some cases there is a familial component; it can reach 10-40%. The early diagnosed disease reacts well to treatment. The following genes are already in a relationship with the disease: TNFRSF11A, TNFRSF11B, TNFSF11A, OPTN, CSF, VCP, SQSTM1, DCSTAMP.

Source: Pentacoreloab

Rickets (NGS panel)

Targeted genes: ALPL, CLCN5, CYP27B1, CYP2R1, DMP1, ENPP1, FGF23, PHEX, SLC34A3, VDR

Source: CGC Genetics

Short-rib thoracic dysplasia, with or without polydactyly (NGS panel)

Targeted genes: CEP120, CSPP1, DYNC2H1, EVC, EVC2, IFT122, IFT140, IFT172, IFT43, IFT80, NEK1, TTC21B, WDR19, WDR34, WDR35, WDR60

Source: CGC Genetics

Skeletal dysplasia (NGS panel)

Targeted genes (31): ALPL, ARSE, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, CRTAP, DDR2, EBP, FGFR3, FLNB, HSPG2, INPPL1, LBR, LEPRE1, LIFR, MMP13, MMP9, NKX3-2, NSDHL, PEX7, PTH1R, RMRP, SBDS, SLC26A2, SLC35D1, SOX9, TRIP11, TRPV4

Source: CGC Genetics

Skeletal dysplasia ciliopathy NGS panel

Targeted genes: DYNC2H1, EVC, EVC2, IFT43, IFT80, IFT122, IFT140, IFT172, NEK1, TCTN3, TTC21B, WDR19, WDR34, WDR35, WDR60

Source: Centogene

Skeletal dysplasia extended NGS panel

Targeted genes: ALPL, ARSE, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, DDR2, EBP, FGFR3, FLNB, HSPG2, INPPL1, LBR, LIFR, MMP13, MMP9, NKX3-2, NSDHL, PEX7, PTH1R, RMRP, SBDS, SLC26A2, SLC35D1, SOX9, TRIP11, TRPV4

Source: Centogene

Skeletal Dysplasia Panel

Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (35 Genes), Fetal
Acceptable panel for confirming the specific diagnosis and/or causative mutation in suspected fetal skeletal dysplasia.
Genes tested by sequencing: AGPS, ALPL, ARSE, COL1A1, COL1A2, COL2A1, COMP, CRTAP, DLL3, DYNC2H1, EBP, EVC, EVC2, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, GNPAT, HSPG2, IFT80, LBR, LEPRE1, LIFR, NEK1, PEX7, POR, PPIB, RUNX2, SERPINH1, SLC26A2, SCL35D1, SOX9, TRIP11, TRPV4, TTC21B, WDR19, WDR35

Genes tested by deletion/duplication: AGPS, ALPL, ARSE, COL1A1, COL1A2, COL2A1, CRTAP, DLL3, DYNC2H1, EBP, EVC, EVC2, FGFR1, FGFR2, FGFR3, FKBP10, FLNB, GNPAT, IFT80, LBR, LEPRE1, LIFR, NEK1, PEX7, POR, PPIB, RUNX2, SERPINH1, SLC26A2, SCL35D1, SOX9, TRIP11, TTC21B, WDR19, WDR35
Source: Arup Laboratories


Cardiology (see also Hematology)

Aortopathy Sequencing

Acceptable panel for individuals with clinical phenotype of aortic/vascular aneurysm, dissection, or rupture.Genes tested: ACTA2, CBS, COL3A1, COL5A1, COL5A2, EFEMP2, FBN1, FBN2, FLNA, MYH11, MYLK, PLOD1, PLOD3, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFBR1, TGFBR2
Source: Arup Laboratories

ARVDNEXT

ARVDNext is a targeted panel for patients with arrhythmogenic right ventricular dysplasia (ARVD).
ARVDNext is a next generation sequencing (NGS) and deletion/duplication panel of nine genes associated with ARVD: DSC2, DSG2, DSP, JUP, LMNA, PKP2, RYR2, TGFB3, TMEM43. These genes are also included in the comprehensive inherited cardiomyopathy (CMNext), inherited arrhythmia (RhythmNext) and cardiovascular genetics (CardioNext) panels.
Source:Ambry Genetics

Arrhythmia Gene Set

Includes all genes from the following four gene sets
Brugada Syndrome (BrS) Gene Set
CACNA1C, CACNB2, GPD1L, HCN4, KCND3, KCNE3, KCNJ8, PKP2, SCN1B, SCN3B, SCN5A
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Gene Set
ANK2, CALM1, CASQ2, KCNJ2, RYR2
Long QT Syndrome (LQTS) Gene Set
AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1
Short QT Syndrome (SQTS)
CACNA1C, CACNB2, KCNH2, KCNJ2, KCNQ1
Source: WUSTL

Arrhythmia, hereditary panel

Targeted genes: AKAP9, ANK2, CACNA1C, CACNB2, CASQ2, CAV3, DSC2, DSG2, DSP, GPD1L, JUP, KCNA5, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, NPPA, PKP2, PLN, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SNTA1, TGFB3, TMEM43

Source: Centogene

Arrhythmia NGS Panel

Targeted Genes: AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CASQ2, CAV3, CPT1A, DES, DSC2, DSG2, DSP, GJA5, GPD1L, GYG1, HCN4, JUP, KCNA5, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ8, KCNQ1, LDB3, LMNA, NPPA, PKP2, PRKAG2, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SLC25A20, SNTA1, TGFB3, TMEM43
Source: Fulgent Diagnostics

Arrhythmogenic Right Ventricular Cardiomyopathy NGS Panel

Targeted Genes: AKAP9, ANK2, CACNA1C, CACNB2, CASQ2, CAV3, DSC2, DSG2, DSP, GPD1L, HCN4, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LDB3, NKX2-5, PKP2, RANGRF, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SNTA1, TMEM43
Source: Fulgent Diagnostics

Arrhythmogenic right ventricular cardiomyopathy panel

Targeted genes: DSP, DSG2, DSC2, JUP, PKP2, RYR2, TGFB3, TMEM43

Source: Centogene

Arrhythmogenic right ventricular dysplasia (ARVD)

Targeted genes: DSC2, DSG2, DSP, JUP, PKP2, RYR2, TMEM43

Source: CGC Genetics

Atrial Fibrillation NGS Panel

Targeted Genes: ABCC9, GATA4, GATA6, GJA5, HCN4, KCNA5, KCND3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LDB3, LMNA, NPPA, NUP155, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A
Source: Fulgent Diagnostics

Asper Cardiogenetics

Asper Cardiogenetics covers genetic tests related to cardiovascular diseases, including Long QT syndrome, Marfan syndrome, Noonan syndrome, as well as tests for prediction of adverse drug reactions.
Source: Asper Biotech

Website

Brugada syndrome

Targeted genes: GPD1L, SCN5A, CACNB2, KCNE3, SCN3B, CACNA1C, SCN1B

Source: CGC Genetics

Brugada Syndrome (BrS) Gene Set

Targeted genes: CACNA1C, CACNB2, GPD1L, HCN4, KCND3, KCNE3, KCNJ8, PKP2, SCN1B, SCN3B, SCN5A
Source: WUSTL

Brugada Syndrome NGS Panel

Targeted Genes: CACNA1C, CACNB2, GPD1L, HCN4, KCNE3, SCN1B, SCN3B, SCN5A
Source: Fulgent Diagnostics

Brugada syndrome panel

Targeted genes: CACNA1C, CACNB2, GPD1L, HCN4, KCNE3, SCN1B, SCN3B, SCN5A, SLMAP

Source: Centogene

Cardiac conduction changes (NGS panel)

Targeted genes (27): AKAP9, ALG10, ANK2, CACNA1C, CACNB2, CALM1, CASQ2, CAV3, GPD1L, HCN4, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNQ1, MYH6, PRKAG2, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SNTA1,TNNI3K,TRDN

Source. CGC Genetics

Cardiac Healthy Weight DNA InsightTM

Cardiac Healthy Weight DNA InsightTM can help physicians and patients understand how genetics and lifestyle affect diet, nutrition, weight and overall heart health. Clinical studies have shown that individuals who follow a genetically appropriate diet lose significantly more weight and are able to maintain weight loss more easily than those on a diet not based on their genetics.
Source: Pathway

Website

Cardiac DNA InsightTM

Cardiac DNA InsightTM can help identify a patient’s propensity for increased risk of certain heart-related health conditions. This report also examines eight classes of drugs that affect the cardiovascular system: anti-platelets, anti-coagulants, statins, stimulants, beta-blockers, ACE inhibitors, calcium channel blockers and hormone therapies. Cardiac DNA Insight may be used to enhance the information provided in lipid tests that evaluate risk for cardiovascular disease.
Source: Pathway

Website

Cardio-Facio-Cutaneous Syndrome NGS Panel

Targeted Genes: BRAF, KRAS, MAP2K1, MAP2K2, SOS1
Source: Fulgent Diagnostics

Cardio Incode

Identifies true lifetime risk for cardiovascular-related events
For more information please visit the Selah Genomics website.

Cardiomyopathy and Arrhythmia Panel

Cardiomyopathy and Arrhythmia Panel, Sequencing (85 Genes) and Deletion/Duplication (83 Genes)
Source: Arup Laboratories

Cardiomyopathy and changes in cardiac conduction (NGS panel)

Targeted genes (59): ABCC9, ACTC1, ACTN2, AKAP9, ALG10, ANK2, CACNA1C, CACNB2, CALM1, CASQ2, CAV3, CSRP3, DES, DSC2, DSG2, DSP, GLA, GPD1L, HCN4, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNQ1, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, NEXN, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SGCD, SNTA1, TCAP, TMEM43, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TTN, VCL

Source: CGC Genetics

Cardiomyopathies, Comprehensive Diagnostics

Multi Gene Panel (81 Genes)
Targeted genes: AARS2 ACAD9 ACADM ACADS ACADVL ACTA1 AGK AGL BAG3 CAV3 CHKB COX15 CPT1A CPT2 CRYAB DES DMD DSC2 DSG2 DSP EMD ETFA ETFB ETFDH FHL1 FKRP FKTN FLNC GAA GBE1 GFM1 GLA GNE JUP LAMP2 LARGE LDB3 LMNA MTO1 MYBPC1 MYBPC3 MYH6 MYH7 MYL2 MYL3 MYOT PKP2 PLEC PNPLA2 POMGNT1 POMT1 POMT2 PRKAG2 RAF1 RBM20 RYR2 SCN5A SCO2 SDHA SEPN1 SGCA SGCB SGCD SGCG SLC22A5 SLC25A20 SLC25A3 SYNE1 SYNE2 TAZ TCAP TGFB3 TMEM43 TMEM70 TNNC1 TNNI3 TNNT2 TPM1 TTN TTR VCP
Source: Medical Genetics Center

Cardiomyopathy, Dilated

Multi Gene Panel (28 Genes)
Targeted genes: BAG3 CAV3 DES DSC2 DSG2 DSP JUP LAMP2 LDB3 LMNA MYBPC3 MYH6 MYH7 PKP2 RAF1 RBM20 RYR2 SCN5A SLC22A5 TAZ TCAP TGFB3 TMEM43 TNNC1 TNNI3 TNNT2 TPM1 TTN
Source: Medical Genetics Center

Cardiomyopathy dilated panel

Targeted genes: ABCC9, ACTC1, ACTN2, BAG3, CSRP3, DES, DMD, DSG2, EYA4, FKTN, GATAD1, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, NEXN, PLN, PSEN1, MT-ND1, MT-ND5, MT-ND6, MT-TD, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TQ, MT-TS1, MT-TS2, PSEN2, RBM20, SCN5A, SDHA, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL

Source: Centogene

Cardiomyopathy Gene Set

Includes all genes from the following four gene sets
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Gene Set
DES, DSC2, DSG2, DSP, JUP, PKP2, RYR2, TMEM43
Dilated Cardiomyopathy (DCM) Gene Set
ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CSRP3, CTF1, DES, EMD, FHL1, FHL2, GATAD1, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, NEXN, PLN, RBM20, SCN5A, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL
Hypertrophic Cardiomyopathy (HCM) Gene Set
ACTC1, ACTN2, BRAF, CSRP3, GLA, HRAS, KRAS, LAMP2, MAP2K1, MAP2K2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, NEXN, NRAS, PLN, PRKAG2, PTPN11, RAF1, RIT1, SHOC2, SOS1, TNNC1, TNNI3, TNNT2, TPM1, TTR
Left Ventricular Noncompaction (LVNC) Gene Set
ACTC1, CASQ2, DTNA, LDB3, LMNA, MYBPC3, MYH7, TAZ, TNNT2, VCL
Source: WUSTL

Cardiomyopathy, Hypertrophic

Multi Gene Panel (18 Genes)
Targeted genes: AGK COX15 GLA LAMP2 MYBPC3 MYH6 MYH7 MYL2 MYL3 PRKAG2 SLC25A20 SLC25A3 TMEM70 TNNC1 TNNI3 TNNT2 TPM1 TTR
Source: Medical Genetics Center

Cardiomyopathy (hypertrophic, dilated and arrhythmogenic right ventricular dysplasia, NGS panel)

Targeted genes (36): ABCC9, ACTC1, ACTN2, CAV3, CSRP3, DES, DSC2, DSG2, DSP, GLA, JUP, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, NEXN, PKP2, PLN, PRKAG2, RBM20, RYR2, SGCD, TCAP, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL

Source: CGC Genetics

Cardiomyopathy hypertrophic panel

Targeted genes: ACTC1, CALR3, CAV3, CSRP3, GLA, JPH2, LAMP2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, NEXN, PLN, PRKAG2, SLC25A4, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL

Source: Centogene

Cardiomyopathy Panel

Targeted genes: ABCC9 , ACTC (ACTC1), ACTN2, ANKRD1, BAG3, BRAF, CAV3, CRYAB , CSRP3, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, FKTN, GATAD1, GLA, HRAS, ILK, JPH2, JUP, KRAS, LAMA4, LAMP2, LDB3 (ZASP), LMNA, MAP2K1, MAP2K2, MTND1, MTND5, MTND6, MTTD, MTTG, MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2, MYBPC3, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEBL , NEXN, NRAS, PDLIM3, PKP2, PLN, PRKAG2, PTPN11, RAF1, RBM20, RYR2, SCN5A, SGCD, SOS1, TAZ, TCAP, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL

Disorders:
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
Dilated Cardiomyopathy (DCM)
Hypertrophic Cardiomyopathy (HCM)
Left Ventricular Noncompaction (LVNC)
Noonan Syndrome

Source: GeneDx

Cardiomyopathy Panel

Next generation sequencing using Illumina NextSeq 500 technology of the 112 cardiomyopathy-associated genes:
ABCC9, ACTA2, ACTC1, ACTN2, AKAP9, ANK2, ANKRD1, BAG3, BRAF, CACNA1C, CACNB2, CAV3, CBL, CBS, COL3A1, COL5A1, COL5A2, COX15, CRYAB, CSRP3, CTF1, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FBN1, FBN2, FKTN, FLNA, FXN, GAA, GATAD1, GLA, GPD1L, HCN4, HRAS, ILK, JPH2, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, KRAS, LAMA4, LAMP2, LDB3, LMNA, MAP2K1, MAP2K2, MED12, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, MYLK2, MYOZ2, MYPN, NEBL, NEXN, NOTCH1, NRAS, OBSCN, PDLIM3, PKP2, PLN, PLOD1, PRKAG2, PTPN11, RAF1, RBM20, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SCO2, SGCD, SHOC2, SKI, SLC2A10, SMAD3, SNTA1, SOS1, SPRED1, SURF1, TAZ, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRPM4, TTN, TTR, TXNRD2, VCL
Source: Knight Diagnostic Laboratories

CARDIONEXT

CardioNext is a next generation sequencing (NGS) and deletion/duplication panel of 85 genes associated with hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular dysplasia (ARVD), left ventricular non-compaction (LVNC), restrictive cardiomyopathy, long QT syndrome (LQTS), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT) and short QT syndrome. This panel also includes genes that cause cardiomyopathy that is associated with inherited muscular dystrophies, as well as some genes associated with congenital heart defects.
Source: Ambry Genetics

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) / Arrhythmogenic Right Ventricular Dysplasia (ARVD)

Multi Gene Panel (12 Genes)
Targeted genes: CALM1 CASQ2 DES DSC2 DSG2 DSP JUP PKP2 RYR2 TGFB3 TMEM43 TRDN
Source: Medical Genetics Center

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Gene Set

Targeted genes: ANK2, CALM1, CASQ2, KCNJ2, RYR2
Source: WUSTL

Catecholaminergic Polymorphic Ventricular Tachycardia NGS Panel

Targeted Genes: ANK2, CALM1, CASQ2, KCNJ2, RYR2, TRDN
Source: Fulgent Diagnostics

Catecholaminergic polymorphic ventricular tachycardia panel

Targeted genes: RYR2, CASQ2, KCNJ2

Source: Centogene

CMNEXT

CMNext is a next generation sequencing (NGS) and deletion/duplication panel including 55 genes associated with hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular dysplasia (ARVD), left ventricular non-compaction (LVNC), and/or restrictive cardiomyopathy. This panel also includes genes that can cause cardiomyopathy associated with inherited muscular dystrophies.

Genes included in CMNext are: ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, EMD, EYA4, FKTN, FXN, GATAD1, GLA, JPH2, JUP, LAMA4, LAMP2, LDB3/ZASP, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOZ2, MYPN, NEXN, NKX2.5, PKP2, PLN, PRKAG2, PTPN11, RAF1, RBM20, RYR2, SCN5A, TAZ, TBX20, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTR, TXNRD2, and VCL.
Source: Ambry Genetics

Combined Cardiac Panel

Targeted genes: ABCC9 , ACTC (ACTC1), ACTN2, AKAP9, ANK2, ANKRD1, BAG3, BRAF, CACNA1C, CACNB2, CASQ2, CAV3, CRYAB , CSRP3, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, FKTN, GATAD1, GLA, GPD1L, HCN4, HRAS, ILK, JPH2, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KRAS, LAMA4, LAMP2, LDB3 (ZASP), LMNA, MAP2K1, MAP2K2, MTND1, MTND5, MTND6, MTTD, MTTG, MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2, MYBPC3, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEBL , NEXN, NKX2.5 , NRAS, PDLIM3, PKP2, PLN, PRKAG2, PTPN11, RAF1, RANGRF, RBM20, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SGCD, SNTA1, SOS1, TAZ, TCAP, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL

Disorders:
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
Brugada Syndrome (BrS)
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
Dilated Cardiomyopathy (DCM)
Hypertrophic Cardiomyopathy (HCM)
Left Ventricular Noncompaction (LVNC)
Long QT Syndrome (LQTS)
Noonan Syndrome
Short QT Syndrome (SQTS)
Sudden Cardiac Arrest

Source: GeneDx

Comprehensive Cardiomyopathy Panel

ApolloGen’s cardiomyopathy panel detects target genes associated with inherited cardiomyopathies, including Hypertrophic Cardiomyopathy (HCM), Dilated Cardiomyopathy (DCM), Restrictive Cardiomyopathy (RCM), Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), and Left Ventricular Non-Compaction (LVNC). The causal genes for Danon Syndrome, Fabry disease, Barth Syndrome, and Transthyretin Amyloidosis are also included in this panel.
Targeted Genes: ABCC9, ACTC1, ACTN2, BMPR2, CAV3, DES, GLA, LAMA4, LAMP2, LDB3, LMNA, MT-TD, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TQ, MT-TS1, MT-TS2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYPN, PLN, PRKAG2, PSEN1, PSEN2, RBM20, SCN5A, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTR, VCL
Source: ApolloGen

CPVT Sequencing Panel

Targeted genes: CASQ2, KCNJ2, RYR2

Source: GeneDx

DCM/LVNC Sequencing Panel

Targeted genes: ACTC (ACTC1), ACTN2, ANKRD1, CSRP3, DES, EMD, LAMP2, LDB3 (ZASP), LMNA, MTND1, MTND5, MTND6, MTTD, MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2, MYBPC3, MYH7, NEXN, PLN, RBM20, SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL

Disorders:
Danon Disease
Dilated Cardiomyopathy (DCM)
Left Ventricular Noncompaction (LVNC)
Transthyretin Amyloidosis

Source: GeneDx

DCMNEXT

DCMNext is a targeted panel for patients with dilated cardiomyopathy (DCM).
DCMNext is a next generation sequencing (NGS) and deletion/duplication panel of 36 genes associated with DCM: ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CSRP3, DES, DMD, EYA4, FKTN, LAMA4, LAMP2, LDB3/ZASP, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEXN, NKX2.5, PLN, RAF1, RBM20, SCN5A, TAZ, TBX20, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, TXNRD2 and VCL.
Source: Ambry Genetics

Dilated cardiomyopathy

Targeted genes: ABCC9, ACTC1, ACTN2, CSRP3, DES, DSG2, LDB3, LMNA, MYBPC3, MYH6, MYH7, NEXN, PLN, RBM20, SGCD, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL

Source: CGC Genetics

Dilated Cardiomyopathy (DCM) Gene Set

Targeted genes: ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CSRP3, CTF1, DES, EMD, FHL1, FHL2, GATAD1, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, NEXN, PLN, RBM20, SCN5A, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL
Source: WUSTL

Dilated Cardiomyopathy NGS Panel

Targeted Genes: (32) ABCC9, ACTC1, ACTN2, ANKRD1, CAV3, CRYAB, CSRP3, DES, DSC2, DSG2, DSP, EMD, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, NEXN, PKP2, PLN, RBM20, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL
Source: Fulgent Diagnostics

Dilated Cardiomyopathy Panel

Hereditary dilated cardiomyopathy (DCM) may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner, depending on the gene involved. In DCM patients, the left ventricle becomes enlarged, or dilated, and therefore unable to pump with as much force as an unaffected heart can. Typically, DCM presents with one of three features: heart failure, thromboembolic disease, or arrhythmias and/or conduction system disease.
Targeted genes: ABCC9, ACTC1, ACTN2, DES, LAMA4, LDB3, LMNA, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TQ, MT-TS1, MT-TS2, MYBPC3,MYH6, MYH7, MYPN, PLN, PSEN1, PSEN2, RBM20, SCN5A, SGCD, TAZ, TCAP, TMPO, TNNI3, TNNT2, TPM1, VCL
Source: ApolloGen

HCMFIRST AND HCMNEXT

HCMFirst is a panel including the two genes most commonly associated with HCM: MYBPC3 and MYH7. These genes are implicated in over 80% of known genetic causes of HCM, so HCMFirst is an excellent first-tier testing option. HCMNext is a panel including 27 genes associated with HCM: ACTC1, ACTN2, ANKRD1, CSRP3, FXN, GLA, JPH2, LAMP2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOZ2, MYPN, NEXN, PLN, PRKAG2, PTPN11, RAF1, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTR and VCL. These genes are also included in the comprehensive inherited cardiomyopathy (CMNext) and cardiovascular genetics (CardioNext) panels.
Source: Ambry Genetics

HCM MASTR assay

A ready to use molecular assay for early detection of mutations in HCM related genes by massively parallel sequencing.
The HCM MASTR assay amplifies the entire coding regions of MYBPC3, MYH7, TNNI3, TNNT2, and MYL2 genes. The assay contains 131 amplicons (280-430 bp) including control amplicons for evaluation of copy number variations in 5 multiplex PCR reactions.
Source: Mulitplicom

Website

HCM Sequencing Panel

Targeted genes: ACTC (ACTC1), CAV3, GLA, LAMP2, MTTG, MTTI, MTTK, MTTQ, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNC1, TNNI3, TNNT2, TPM1, TTR

Disorders:
Danon Disease
Fabry Disease
Hypertrophic Cardiomyopathy (HCM)
Transthyretin Amyloidosis
Wolff-Parkinson-White Syndrome

Source: GeneDx

Hemiplegia/Stroke NGS Panel

Targeted Genes: ATP1A2, ATP1A3, CACNA1A, COL4A1, COL4A2, NOTCH3, OTC, POLG, SCN1A, SLC2A1
Source: Fulgent Diagnostics

Human Cardiomyopathy Panel

he Human Cardiomyopathy GeneRead DNAseq Targeted Panel is a collection of multiplexed PCR primer assays for targeted enrichment of the coding (exonic) regions of 58 genes mutated in hereditary cardiomyopathy. The two major forms of primary cardiomyopathy are hypertrophic and dilated. Hypertrophic cardiomyopathy commonly presents with left ventricular hypertrophy, often due to high blood pressure during the diastolic (resting) phase of the heartbeat. Dilated cardiomyopathy commonly presents with dilated ventricles, often due to increased systolic blood pressure. There is a significant genetic component to both of these forms of cardiomyopathy, including 50% of hypertrophic patients and 20–35% of dilated cardiomyopathy patients.
Source: Qiagen

Hypertrophic cardiomyopathy (HCM)

Targeted genes: ACTC1, CAV3, CSRP3, GLA, LAMP2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, NEXN, PLN, PRKAG2, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL

Source: CGC Genetics

Hypertrophic Cardiomyopathy (HCM) Gene Set

Targeted genes: ACTC1, ACTN2, BRAF, CSRP3, GLA, HRAS, KRAS, LAMP2, MAP2K1, MAP2K2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, NEXN, NRAS, PLN, PRKAG2, PTPN11, RAF1, RIT1, SHOC2, SOS1, TNNC1, TNNI3, TNNT2, TPM1, TTR
Source: WUSTL

Hypertrophic Cardiomyopathy NGS Panel

Targeted Genes: (63) ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, BRAF, CAV3, CRYAB, CSRP3, CTF1, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, FKTN, GATAD1, GLA, HRAS, ILK, JPH2, JUP, KRAS, LAMA4, LAMP2, LDB3, LMNA, MAP2K1, MAP2K2, MYBPC3, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEBL, NEXN, NRAS, PDLIM3, PKP2, PLN, PRKAG2, PTPN11, RAF1, RBM20, RYR2, SCN5A, SGCD, SOS1, TAZ, TCAP, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL
Source: Fulgent Diagnostics

Hypertrophic Cardiomyopathy Panel

Hereditary hypertrophic cardiomyopathy (HCM) is characterized by left ventricular hypertrophy without predisposing cardiac or cardiovascular conditions. HCM is inherited in an autosomal dominant manner with an extremely variable phenotype, even within the same family, ranging from asymptomatic to progressive heart failure. Symptoms may include chest pain, orthostasis, palpitations, fatigue, and shortness of breath.
Targeted genes: BMPR2, CAV3, GLA, LAMP2, MT-TG, MT-TI, MT-TK, MT-TQ, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNC1, TNNI3, TNNT2, TPM1, TTR
Source: ApolloGen

HEREDITARY HEMORRHAGIC TELANGIECTASIA (HHT) TESTING

Hereditary hemorrhagic telangiectasia (HHT) is an inherited condition causing abnormalities in the blood vessels. Frequent nosebleeds, characteristic skin findings, and blood vessel malformations are common.
Ambry offers tiered, comprehensive next generation sequencing (NGS) panels of the 5 most common genes associated with HHT in order to provide accurate results for patients and their families and help guide their care and management.
Source: Ambry Genetics

Hereditary Hemorrhagic Telangiectasia Panel

Targeted genes: ACVRL1 (ALK1), ENG, RASA1, SMAD4

Source: GeneDx

iGene Cardiac Panel

Covered Diseases / Risk Areas: Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy, Arrhythmogenic Right Ventricular Cardiomyopathy, Catecholaminergic Polymorphic Ventricular Tachycardia, Romano-Ward Long QT Syndromes, Brugada Syndromes, Familial Hypercholesterolemia, and Malignant Hyperthermia Susceptibility.
Targeted genes: ACTC1, APOB, COL3A1, DSG2, DSP, GLA, KCNH2, KCNQ1, LDLR, LMNA, MYBPC3, MYH7, MYL3, PCSK9, PKP2, PRKAG2, RYR1, RYR2, SCN5A, TNNI3, TNNT2, TPM1, and TTN
Source: ApolloGen

Infancy: Cardiomyopathies

Multi Gene Panel (23 Genes)
Targeted genes: AARS2 ACAD9 ACADM ACADS ACADVL AGK COX15 CPT1A CPT2 DSC2 DSP GLA JUP LAMP2 MTO1 RAF1 SCO2 SDHA SLC22A5 SLC25A20 SLC25A3 TAZ TMEM70
Source: Medical Genetics Center

Invitae Aortopathy Comprehensive Panel

Genetic testing for up to 22 genes which cause aortopathy; presenting as isolated thoracic aortic aneurysms and/or dissections (TAAD) or as a syndrome.
Source: Invitae

Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel

This test provides a comprehensive analysis of the genes associated with inherited arrhythmia and cardiomyopathy conditions. The Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel covers primary arrhythmia and cardiomyopathy syndromes.
Genetic testing for up to 121 genes that cause hereditary primary arrhythmia and/or cardiomyopathy, as well as syndromic causes of cardiomyopathy.
Source: Invitae

Invitae Arrhythmia Comprehensive Panel

Genetic testing for up to 57 genes that cause arrhythmia and arrhythmogenic cardiomyopathy, including LQTS, SQTS, Brugada syndrome, CPVT, and ARVC.
Source: Invitae

Invitae Cardio-Facio-Cutaneous Syndrome Panel

The Invitae Cardio-Facio-Cutaneous Syndrome Panel analyzes six genes that are associated with cardio-facio-cutaneous (CFC) syndrome. CFC syndrome is one of the RASopathies, which are a class of pediatric disorders associated with genes that are members of the mitogen-activated protein kinase (Ras/MAPK) pathway. This pathway is involved in a signal transduction cascade that is necessary for the proper formation of several types of tissue during embryonic and postnatal development.
Source: Invitae

Invitae Cardiomyopathy Comprehensive Panel

Genetic testing for up to 90 genes that cause inherited cardiomyopathy, including HCM, DCM, LVNC, ARVC, and some syndromic causes of cardiomyopathy.
Source: Invitae

Invitae Isolated and Syndromic Congenital Heart Disease Panel

The Invitae Isolated and Syndromic Congenital Heart Disease Panel analyzes 55 genes that are associated with both isolated and syndromic congenital heart defects. These genes were selected based on the available evidence to date to provide Invitae’s most comprehensive test for congenital heart disease (more commonly referred to as congenital heart defects).
Clinicians may also consider including additional genes associated with primary ciliary dyskinesia (PCD). There is significant clinical overlap between PCD and congenital heart disease, and it may be difficult to differentiate between PCD- and non-PCD-related heart defects early in life.
Source: Invitae

Invitae Laterality Disorders Panel

The Invitae Laterality Disorders Panel analyzes 35 genes that are associated with laterality defects, including situs inversus (a complete mirror-image arrangement of the internal organs) and heterotaxy spectrum (abnormal arrangement of one or more visceral organs and complex cardiovascular malformations). These genes were selected based on the available evidence to date to provide a comprehensive test for the molecular diagnosis of a laterality disorder.
Due to left-right asymmetries in their cardiovascular systems, heterotaxy patients often need complex cardiac surgeries. Compared to congenital heart defect (CHD) patients without heterotaxy, individuals with heterotaxy have increased postoperative morbidity and mortality—often with prolonged respiratory complications.
Source: Invitae

Left ventricular noncompaction (LVNC)

Targeted genes: ACTC1, CSRP3, DTNA, LDB3, LMNA, MYBPC3, MYH7, PLN, SGCD, TAZ, TCAP, TNNT2, TPM1

Source: CGC Genetics

Left Ventricular Noncompaction (LVNC) Gene Set

Targeted genes: ACTC1, CASQ2, DTNA, LDB3, LMNA, MYBPC3, MYH7, TAZ, TNNT2, VCL
Source: WUSTL

Left Ventricular Noncompaction NGS Panel

Targeted Genes: ACTC1, DTNA, LDB3, LMNA, MYBPC3, MYH7, TAZ, TNNT2, TPM1, VCL
Source: Fulgent Diagnostics

Long QT syndrome

Targeted genes: AKAP9, ALG10, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1

Source: CGC Genetics

Long QT Syndrome (LQTS)

Multi Gene Panel (7 Genes)
Targeted genes: CAV3 KCNE1 KCNE2 KCNH2 KCNQ1 RYR2 SCN5A
Source: Medical Genetics Center

Long QT Syndrome (LQTS) Gene Set

Targeted genes: AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1 - See more at: http://gps.wustl.edu/cardiac-disease#cardiogene
Source: WUSTL

Long QT Syndrome NGS Panel

Targeted Genes: AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1
Source: Fulgent Diagnostics

Long QT syndrome panel

Targeted genes: AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1

Source: Centogene

LVNCNEXT

LVNCNext is a targeted panel for patients with left ventricular non-compaction (LVNC).
LVNCNext is a next generation sequencing (NGS) and deletion/duplication panel of eight genes associated with LVNC: ACTC1, LDB3/ZASP, LMNA, MYBPC3, MYH7, TAZ, TNNT2 and TPM1.
Source: Ambry Genetics

LQTS Gene Sequencing & Del/Dup Panel

Targeted genes: AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, SCN4B, SCN5A, SNTA1

Source: GeneDx

Mitochondrial Cardiomyopathy

Multi Gene Panel (19 Genes)
Targeted genes: AARS2 ACAD9 ACADM ACADS ACADVL AGK COX15 CPT1A CPT2 GFM1 LAMP2 MTO1 SCO2 SDHA SLC22A5 SLC25A20 SLC25A3 TAZ TMEM70
Source: Medical Genetics Center

Pan-Cardio NGS Panel

Targeted Genes: (113) ABCC9, ACTC1, ACTN2, AKAP9, ANK2, ANKRD1, APOA5, BAG3, BRAF, CACNA1C, CACNA2D1, CACNB2, CALR3, CASQ2, CAV3, COX15, CPT1A, CRYAB, CSRP3, CTF1, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FKTN, FLNA, FXN, GAA, GATA4, GATAD1, GJA5, GLA, GPD1L, HCN4, HRAS, ILK, JAG1, JPH2, JUP, KCNA5, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KRAS, LAMA4, LAMP2, LDB3, LDLR, LMNA, MAP2K1, MAP2K2, MRPL3, MURC, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOZ2, MYPN, NDUFAF1, NEBL, NEXN, NKX2-5, NPPA, NRAS, PDLIM3, PKP2, PLN, PRKAG2, PSEN2, PTPN11, RAF1, RANGRF, RBM20, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SDHA, SGCD, SLC25A20, SNTA1, SOS1, SYNE1, TAZ, TBX1, TBX5, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, TXNRD2, VCL
Source: Fulgent Diagnostics

RHYTHMFIRST AND RHYTHMNEXT

RhythmFirst is a panel including the three genes most commonly associated with long QT syndrome (LQTS), Brugada syndrome (BrS), and short QT syndrome (SQTS): SCN5A, KCNQ1, and KCNH2. These genes are implicated in over 80% of known genetic causes of LQTS and BrS, so RhythmFirst is an excellent first-tier testing option. RhythmNext is a panel including 36 genes associated with arrhythmogenic right ventricular dysplasia (ARVD),BrS, catecholaminergic polymorphic ventricular tachycardia (CPVT), LQTS, SQTS, other arrhythmias/channelopathies, as well as sudden cardiac arrest. Genes in RhythmNext include: AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CASQ2, CAV3, DSC2, DSG2, DSP, GPD1L, HCN4, JUP, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ8, KCNQ1, LMNA, NKX2.5, PKP2, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SNTA1, TBX5, TGFB3, TMEM43, TRDN, and TRPM4.
Source: Ambry Genetics

Short QT syndrome (NGS panel)

Targeted genes: KCNH2, KCNQ1, KCNJ2, CACNA1C, CACNB2

Source: CGC Genetics

Short QT Syndrome (SQTS)

Targeted genes: CACNA1C, CACNB2, KCNH2, KCNJ2, KCNQ1
Source: WUSTL

SQTS Sequencing Panel

Targeted genes: KCNH2, KCNJ2, KCNQ1

Disorder:
Short QT Syndrome (SQTS)

Source: GeneDx

Sudden Cardiac Arrest Arrhythmia Sequencing Panel

Targeted genes: ANK2, CASQ2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, RYR2, SCN5A

Disorders:
Sudden Cardiac Arrest
Sudden Unexplained Death

Source: GeneDx

Sudd Incode

"Best-in-class testing for Sudden Cardiac Death risk assessment"
Analyzes 55 genes related with sudden cardiac death (SCD).

Source: Selah Genomics

TAADNEXT

TAADNext detects mutations in all coding domains and splice junctions of: ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MED12, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, and TGFBR2. Gross deletion/duplication analysis is performed for 17 genes (all except CBS, COL5A1, FLNA, SMAD4, and TGFB3). TAADNext identifies >96% of described mutations in these genes, when present (analytic sensitivity).
Source: Ambry Genetics

Teenager Stroke / Stroke-Like Episodes

Multi Gene Panel (21 Genes)
Targeted genes: ABCC6 AMACR CACNA1C CBS CECR1 COL3A1 COL4A1 COL4A2 FBN1 FLNA GLA HTRA1 NOTCH3 OTC POLG SLC2A10 TGFB2 TGFBR1 TGFBR2 TREX1 TTR
Source: Medical Genetics Center

Thoracic Aortic Aneurysms and Aortic Dissections (TAAD)

Multi Gene Panel (16 Genes)
Targeted genes: ACTA2 CBS COL3A1 EFEMP2 FBN1 FLNA MYH11 MYLK NOTCH1 PRKG1 SKI SLC2A10 SMAD3 TGFB2 TGFBR1 TGFBR2
Source: Medical Genetics Center

TruSight Cardio Kit

The TruSight Cardio Kit uses next-generation sequencing (NGS) to provide comprehensive coverage of 174 genes with known associations to 17 ICCs, including cardiomyopathies, arrhythmias, aortopathies, and more. Genes were expertly selected with researchers at the National Heart and Lung Institute at the Imperial College of London. Content includes well-established genes that are important for heart diseases that run in families and emerging genes found in the literature.
Source: Illumina

Website

TruSeq Targeted RNA Expression

The TruSeq Targeted RNA Expression Cardiotoxicity Panel is a predesigned gene expression profiling solution for studying cellular pathways affected by cardiotoxic compounds or stress. The panel includes assays targeting 76 genes used as markers of the cardiotoxic response. All TruSeq Targeted RNA fixed panels are experimentally validated to ensure strong correlation with RNA sequencing.
Source: Illumina

Website


Cell Cycle

TruSeq Targeted RNA Expression Cell Cycle Panel

The TruSeq Targeted RNA Expression Cell Cycle Panel is a predesigned gene expression profiling solution for studying the cell cycle. The panel includes assays targeting 63 genes involved in all phases of the cell cycle as well as DNA replication. All TruSeq Targeted RNA fixed panels are experimentally validated to ensure strong correlation with RNA sequencing.
Source: Illumina

Website


Chromosomal Genetics

Chromosomal Instability Syndromes NGS Panel

Targeted Genes: ATM, BLM, ERCC6, ERCC8, MRE11A, NBN, WRN
Source: Fulgent Diagnostics

PicoPLEX™

PicoPLEX™, the technology used by IVF clinics worldwide for pre-implantation genetic screening and diagnosis in detecting chromosomal aneuploidies and copy number variations, is now available for use on your Illumina NGS platform! PicoPLEX DNA-seq kit streamlines library preparation; the entire process is performed in a single tube or well – reducing error and contamination, speeding time to results, and reducing costs.
Source: Rubicon Genetics

Website


Ciliopathy

Ciliopathies (NGS panel)

Targeted genes (90): AHI1, ALMS1, ANKS6, ARL13B, ARL6, ARMC4, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C21orf59, C5orf42, CC2D2A, CCDC103, CCDC114, CCDC28B, CCDC39, CCDC40, CCDC65, CCNO, CEP164, CEP290, CEP41, CEP83, CSPP1, DCDC2, DNAAF1, DNAAF2, DNAAF3, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DRC1, DYX1C1, EXOC8, GLIS2, HEATR2, HYDIN, IFT27, INPP5E, INVS, IQCB1, KIF7, LRRC6, LZTFL1, MKKS, MKS1, NEK8, NME8, NODAL, NPHP1, NPHP3, NPHP4, OFD1, PDE6D, PIEZO2, PKD1, PKD2, PKHD1, RPGRIP1L, RSPH1, RSPH4A, RSPH9, SDCCAG8, SPAG1, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TRIM32, TTC21B, TTC8, WDPCP, WDR19, XPNPEP3, ZMYND10, ZNF423

Source: CGC Genetics

Ciliopathies NGS Panel

Targeted Genes: (95) ADGRV1, AHI1, AIPL1, ALMS1, ARL13B, ARL6, ATXN10, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C2orf71, CC2D2A, CCDC28B, CCDC39, CCDC40, CDH23, CEP290, CFTR, CLRN1, CRB1, CRX, DFNB31, DNAAF1, DNAAF2, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DYNC2H1, EVC, EVC2, GLIS2, GUCY2D, HYLS1, IFT43, IFT80, IMPDH1, INVS, IQCB1, KCNJ13, KIF7, LCA5, LRAT, MKKS, MKS1, MYO7A, NEK1, NEK8, NKX2-5, NME8, NODAL, NPHP1, NPHP3, NPHP4, OFD1, PCDH15, PKD2, PKHD1, RD3, RDH12, RPE65, RPGR, RPGRIP1, RPGRIP1L, RSPH4A, RSPH9, SDCCAG8, SPATA7, TCTN1, TCTN2, TMEM216, TMEM67, TOPORS, TRIM32, TTC21B, TTC8, TULP1, UMOD, USH1C, USH1G, USH2A, VHL, WDPCP, WDR19, WDR35, XPNPEP3, ZIC3
Source: Fulgent Diagnostics


Collagen

ALPORT MASTR

A ready to use MPS based molecular assay for detection of COL4A3, COL4A4 and COL4A5 mutations. The ALPORT MASTR amplifies the coding regions of the genes COL4A3, COL4A4 and COL4A5. The assay provides 149 amplicons (270-510 bp) in 4 multiplex PCR reactions.
Source: Multiplicom

Website

Alport syndrome panel

Targeted genes: COL4A3, COL4A4, COL4A5

Source: Centogene

Collagen Type IV-Associated Disorders and Phenocopies

Multi Gene Panel (3 Genes)
Targeted genes: COL4A1 COL4A2 JAM3
Source: Medical Genetics Center


Connective Tissue

Connective Tissue NGS Panel

Targeted Genes: (37) ABCC6, ACTA2, ACVR1, ADAMTS2, ATP6V0A2, CBS, CHST14, COL11A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, MED12, MYH11, MYLK, NOTCH1, PKD2, PLOD1, PRDM5, SKI, SLC2A10, SLC39A13, SMAD3, TGFB2, TGFBR1, TGFBR2, TNXB, ZNF469
Source: Fulgent Diagnostics

EHLERS-DANLOS

Ehlers-Danlos syndrome is a rare disease of connective tissues, which results in unusually flexible joints, very elastic skin and vulnerable tissues. The hereditary disease is caused mostly by mutations in the collagen genes. The affected genes are the following: COL3A1, TNXB, COL5A1, COL5A2, COL1A1, COL1A2, PLOD, ADAMTS2.

Source: Pentacorelab

Ehlers-Danlos Syndrome (EDS)

Multi Gene Panel (14 Genes)
Targeted genes: ADAMTS2 B4GALT7 CHST14 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 FKBP14 PLOD1 PRDM5 SLC39A13 TNXB ZNF469
Source: Medical Genetics Center

Ehlers-Danlos syndrome (NGS panel)

Targeted genes (12): ADAMTS2, B4GALT7, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FKBP14, PLOD1, SLC39A13,TNXB

Source: CGC Genetics


Cornelia De Lange Syndrome

Cornelia De Lange Syndrome

Targeted Genes: HDAC8, NIPBL, RAD21, SMC1A, SMC3
Source: Fulgent Diagnostics

Cornelia de Lange syndrome (NGS panel)

Targeted genes: HDAC8, NIPBL, RAD21, SMC1A, SMC3

Source: CGC Genetics

Cornelia de Lange syndrome panel

Targeted genes: HDAC8, NIPBL, RAD21, SMC1A, SMC3

Source: Centogene

CORNELIA DE LANGE SYNDROME PLUS SEQUENCING PANEL

Targeted Genes
ADNP ANKRD11 ARID1A ARID1B CREBBP EP300 ESCO2 HDAC8 NIPBL PHF6 RAD21 ROR2 SMARCA2 SMARCA4 SMARCB1 SMARCE1 SMC1A SMC3 SOX11 TBC1D24 WNT5A

Disorders
Cornelia de Lange syndrome, Robinow syndrome, Roberts syndrome, Nicolaides-Baraitser syndrome, Rubinstein Taybi syndrome

Source: UCGS


Cystic Fibrosis (see also Pulmonology)

CF AMPLIFIED

CF AMPLIFIED is the most comprehensive test available, detecting ~99% of disease-causing CFTR changes (or mutations), including gross deletions and duplications. Testing begins with CFTR full sequence analysis, which detects 97-98% of mutations. If two pathogenic or likely pathogenic genetic alterations are found in a symptomatic patient, or if one is found on a carrier screen in a patient without symptoms, results are presumed to be informative and no further analysis is performed.
Source: Ambry Genetics

CFTR MASTR™ Dx

The CFTR MASTR™ Dx is a molecular diagnostic assay for identification of sequence variants covering the complete CFTR gene in individuals with increased risk for CF, in CF-carriers or CF-related phenotypes.
Multiplicom’s CFTR MASTR™ Dx assay is provided as a ready-to-use kit that offers robust performance with minimum hands-on time. All reagents necessary to enable multiplex amplification of 48 amplicons (300-450 bp) in two PCR reactions are included, targeting all coding exons, selected intronic regions and part of the promoter region. The assay is validated for DNA derived from whole blood, as well as from dried blood spots. The assay is compatible with all current Massively Parallel Sequencing (MPS) systems, providing the flexibility to choose your preferred method.
Source: Multiplicom

Website


Cytochrome p450

TruSeq Targeted RNA Expression Cytochrome p450 Panel

The TruSeq Targeted RNA Expression Cytochrome p450 Panel is a predesigned gene expression profiling solution for studying Cytochrome p450 (CYP) genes. The panel includes assays targeting 28 cytochrome P450 genes involved in drug and toxin metabolism. All TruSeq Targeted RNA fixed panels are experimentally validated to ensure strong correlation with RNA sequencing.
Source: Illumina

Website


Degeneration and Dementia

Alzheimer dementia and dementia panel

Targeted genes: APOE, APP, PRNP, PSEN1, PSEN2, SORL1, TREM2

Source: Centogene

Alzheimer disease (NGS panel)

Targeted genes: APOE, APP, PRNP, PSEN1, PSEN2, SORL1, SNCA, SNCB

Source: CGC Genetics

Dementia panel

Targeted genes: APOE, APP, C9orf72, CHMP2B, CSF1R, FUS, GRN, MAPT, PRNP, PSEN1, PSEN2, SORL1, TARDBP, TREM2, UBE3A, VCP

Source: Centogene

Early Onset Familial Alzheimer Disease (EOFAD) NGS Panel

Targeted Genes: APP, PSEN1, PSEN2
Source: Fulgent Diagnostics

Frontotemporal dementia (NGS panel)

Targeted genes (13): CHCHD10, CHMP2B, CSF1R, FUS, GRN, HNRNPA1, HNRNPA2B1, MAPT, PSEN1, TARDBP, TUBA4A, UBQLN2, VCP

Source: CGC Genetics

Frontotemporal dementia panel

Targeted genes: CHMP2B, GRN, VCP, FUS, TARDBP, C9orf72, MAPT, SIGMAR1, UBQLN2

Source: Centogene

Hereditary dementias (NGS panel)

Targeted genes (28): APOE, APP, ATP13A2, CHCHD10, CHMP2B, CSF1R, DNMT1, FUS, GRN, HNRNPA1, HNRNPA2B1, ITM2B, MAPT, NOTCH3, PRNP, PSEN1, PSEN2, SNCA, SNCB, SORL1, TARDBP, TIMM8A, TREM2, TRPM7, TUBA4A, TYROBP, UBQLN2, VCP

Source: CGC Genetics


Developmental and Malformation Disorders

Prenatal Limb Abnormalities Panel

This panel includes 5 genes, mutations in which may manifest with fetal limb abnormalities with or without other
organ manifestations. Ultrasound detection of abnormalities of the extremities are most often detected in the 2nd
trimester of pregnancy, while increased nuchal translucency and cystic hygroma seen on first trimester ultrasound are
rare. Reported limb abnormalities range in severity from small hands or flexed forearms and polydactyly to
ectrodactyly, radial malformations or complete absence of the limbs. Depending on the disorder, renal malformations,
congenital heart defects, cleft lip/cleft palate, in-utero growth restriction (IUGR), and increased nuchal translucency
(NT) may also be observed.

Targeted genes: NIPBL, SALL1, SALL4, TBX5, TP63 (TP73L)

Disorders:
Acro-Renal-Ocular syndrome
Clefting Syndrome
Cornelia de Lange Syndrome
Duane-Radial Ray syndrome
Ectodermal Dysplasia
Ectrodactyly
Holt-Oram syndrome
Limb-Mammary Syndrome
Prenatal Cornelia de Lange Syndrome (CdLS)
Townes-Brocks Syndrome

Source: GeneDx


Developmental Delay & Intellectual Disability

AUTOSOMAL RECESSIVE NON-SPECIFIC INTELLECTUAL DISABILITY PANEL

Targeted Genes
ADAT3 ALDH5A1 ALG6 ANK3 AP4B1 AP4E1 AP4M1 AP4S1 ARFGEF2 C12orf57 CA8 CC2D1A CLIP1 CNTNAP2 CRADD CRBN D2HGDH DDHD2 ERLIN2 EZR FBXO31 FMN2 GRIK2 HERC2 KCNJ10 KIAA1033 KPTN L2HGDH LINS MAN1B1 MED23 METTL23 NDST1 NRXN1 NSUN2 PCNT PGAP1 PRSS12 SLC25A1 SLC6A17 SOBP ST3GAL3 TAF2 TECR TRAPPC9 TTI2 TUSC3 VLDLR VPS13B ZC3H14 ZNF526

Disorders
Intellectual Disability
Autosomal recessive non-specific intellectual disability

Source: UCGS

Cerebellar ataxia panel

Targeted genes: ADCK3, APTX, COQ2, COQ9, DNMT1, FXN, PDSS1, PDSS2, POLG, SACS, SETX, SYNE1, TTPA, VLDLR

Source: Centogene

Cerebellar Hypoplasia NGS Panel

Targeted Genes: CASK, OPHN1, RARS2, SEPSECS, TSEN2, TSEN34, TSEN54, VRK1
Source: Fulgent Diagnostics

COMPREHENSIVE NON-SPECIFIC INTELLECTUAL DISABILITY SEQUENCING PANEL

Targeted Genes
ACSL4 ADAT3 ADNP AFF2 AGTR2 ALDH5A1 ALG6 ANK3 AP1S2 AP4B1 AP4E1 AP4M1 AP4S1 ARFGEF2 ARHGEF6 ARHGEF9 ARID1A ARID1B ARX ATP6AP2 ATRX BCOR BRWD3 C12orf57 CA8 CACNG2 CASK CC2D1A CCDC22 CDH15 CDKL5 CLIC2 CLIP1 CNTNAP2 CRADD CRBN CTCF CTNNB1 CUL4B D2HGDH DCX DDHD2 DEAF1 DLG3 DNMT3A DYNC1H1 DYRK1A EHMT1 EIF2S3 EPB41L1 ERLIN2 EZR FBXO31 FLNA FMN2 FMR1 FOXG1 FOXP1 FRMPD4 FTSJ1 GATAD2B GDI1 GRIA3 GRIK2 GRIN2A GRIN2B HCFC1 HERC2 HPRT1 HSD17B10 HUWE1 IDH2 IGBP1 IL1RAPL1 IQSEC2 KCNJ10 KDM5C KIAA1033 KIAA2022 KIF1A KIF4A KIRREL3 KLF8 KPTN L1CAM L2HGDH LINS MAGT1 MAN1B1 MAOA MBD5 MECP2 MED12 MED23 METTL23 MID1 MID2 NAA10 NDST1 NHS NLGN3 NLGN4X NRXN1 NSDHL NSUN2 OCRL OFD1 OPHN1 PACS1 PAK3 PCDH19 PCNT PDHA1 PGAP1 PHF6 PHF8 PLP1 PQBP1 PRPS1 PRSS12 PTCHD1 PURA RAB39B RAI1 RPL10 RPS6KA3 SCN2A SETD5 SHANK2 SHANK3 SHROOM4 SLC16A2 SLC25A1 SLC6A17 SLC6A8 SLC9A6 SMARCB1 SMC1A SMS SOBP SOX11 SRPX2 ST3GAL3 SYN1 SYNGAP1 SYP TAF2 TCF4 TECR TRAPPC9 TSPAN7 TTI2 TUBA1A TUSC3 UBE2A UBE3A UPF3B VLDLR VPS13B ZC3H14 ZDHHC15 ZDHHC9 ZEB2 ZMYND11 ZNF41 ZNF526 ZNF674 ZNF711 ZNF81

Source: UCGS

devACT® Clinical Management Panel

devACT® Clinical Management Panel is a Next Generation Sequencing panel focused on genes that inform actionableclinical management of patients with Developmental Delay, Intellectual Disability, and Autism Spectrum Disorders. Courtagen’s devACT® Clinical Management Panel provides the rapid analysis of genes that can inform meaningful treatment options while potentially avoiding both costly and invasive alternative diagnostic procedures.
Source: Courtagen

Website

Intellectual Disability NGS Panel

Number of Targeted Genes: 391
Source: Fulgent Diagnostics

Invitae Ciliopathies Sensory Panel

The Invitae Sensory Ciliopathies Panel analyzes 39 genes that are important for the development and maintenance of the primary cilium, the sensory organelle of the cell. These genes are associated with a group of disorders known as sensory ciliopathies, and were selected, based on the available evidence to date, to provide a comprehensive test for the diagnosis of these disorders.
Ciliopathies share many overlapping symptoms, which makes clinical distinction between them difficult to determine. The Invitae Sensory Ciliopathies panel test may be indicated for patients whose clinical features can be associated with several ciliopathies, including Joubert syndrome and related disorders (JSRD), Bardet-Biedl syndrome (BBS), nephronophthisis, Meckel syndrome, and Jeune asphyxiating thoracic dystrophy.
Source: Invitae

Mental retardation, X-linked (NGS panel)

Targeted genes (89): ABCD1, ACSL4, AFF2, AP1S2, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCOR, BRWD3, CASK, CDKL5, CLIC2, CUL4B, DCX, DKC1, DLG3, DMD, FANCB, FGD1, FLNA, FMR1, FTSJ1, GDI1, GK, GPC3, GRIA3, HCCS, HCFC1, HDAC8, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IL1RAPL1, IQSEC2, KDM5C, KIAA2022, KIF4A, L1CAM, LAMP2, MAOA, MBTPS2, MECP2, MED12, MID1, MID2, NDP, NDUFA1, NHS, NLGN4X, NSDHL, OCRL, OFD1, OPHN1, OTC, PAK3, PCDH19, PDHA1, PGK1, PHF6, PHF8, PLP1, PORCN, PQBP1, PRPS1, RAB39B, RPS6KA3, SHROOM4, SLC16A2, SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SRPX2, SYN1, SYP, TIMM8A, TSPAN7, UBE2A, UPF3B, USP9X, ZDHHC9, ZNF711, ZNF81

Source: CGC Genetics

X-LINKED NON-SPECIFIC INTELLECTUAL DISABILITY SEQUENCING PANEL

Targeted Genes
ACSL4 AFF2 AP1S2 ARHGEF6 ARHGEF9 ARX ATP6AP2 ATRX BCOR BRWD3 CASK CCDC22 CDKL5 CLIC2 CUL4B DCX DLG3 EIF2S3 FLNA FMR1 FRMPD4 FTSJ1 GDI1 GRIA3 HCFC1 HPRT1 HSD17B10 HUWE1 IGBP1 IL1RAPL1 IQSEC2 KDM5C KIAA2022 KIF4A KLF8 L1CAM MAOA MECP2 MED12 MID1 MID2 NAA10 NHS NLGN3 NLGN4Z NSDHL OCRL OFD1 OPHN1 PAK3 PCDH19 PDHA1 PHF6PHF8 PLP1 PQBP1 PRPS1 PTCHD1 RAB39B RPL10 RPS6KA3 SHROOM4 SLC16A2 SLC6A8 SLC9A6 SMC1A SMS SRPX2 SYN1 SYP TSPAN7 UBE2A UPF3B ZDHHC15 ZDHHC9 ZNF711 ZNF81

Disorders
Intellectual Disability
X-linked non-specific intellectual disability

Source: UCGS

XLID Next-Gen Panel™

The Ambry XLID Next-Gen Panel™ targets detection of mutations in 81 genes by either Next-Generation or Sanger sequencing of all coding domains plus at least 10 bases into the 5’ and 3’ ends of all the introns.
Source: Ambry Genetics


Diabetes

Diabetes mellitus permanent neonatal (NGS panel)

Targeted genes: KCNJ11, ABCC8, HNF1B, GCK, INS, PTF1A, PDX1, GLIS3, RFX6, SLC19A2, GATA6, IER3IP1, PAX6

Source: CGC Genetics

Diabetes neonatal panel

Targeted genes: ABCC8, FOXP3, G6PC2, GCK, GLIS3, INS, INSR, KCNJ11, NEUROG3, PDX1

Source: Centogene

MATURITY-ONSET DIABETES OF THE YOUNG (MODY) TESTING

Maturity-onset diabetes of the young (MODY) is an inherited form of diabetes that, overall, affects 1-2% of individuals with diabetes. Many people with MODY are misdiagnosed with type 1 or type 2 diabetes, and establishing a diagnosis of MODY greatly impacts clinical management.
Mutations in one of five genes (HNF1A, GCK, HNF1B, HNF4A, PDX1) are most commonly implicated in MODY. 80-85% of patients with MODY will have a mutation in one of these genes. Furthermore, large deletions and duplications account for up to 3% of disease-causing mutations.3 Ambry’s MODY panel includes next generation sequencing (NGS) to analyze each of these genes, and also includes MLPA-based deletion/duplication analysis of HNF1A, GCK, HNF1B, and HNF4A.
Source: Ambry Genetics

MODY (NGS panel)

Targeted genes: HNF4A, GCK, HNF1A, PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS, BLK, ABCC8, KCNJ11

Source: CGC Genetics

MODY panel

Targeted genes: ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, NKX2-2, PAX4, PDX1, RFX6, ZFP57

Source: Centogene

MODY PANEL

Targeted Genes
ABCC8 BLK CEL GCK HNF1A HNF1B HNF4A INS KCNJ11 KLF11 NEUROD1 PAX4 PDX1

Disorders
Diabetes
Maturity Onset Diabetes of the Young

Source: UCGS

MODY Sequencing Panel

Targeted genes: GCK, HNF1A, HNF1B, HNF4A, PDX1

Disorders:
Maturity-Onset Diabetes of the Young (MODY)
Permanent Neonatal Diabetes (PND)

Source: GeneDx

MODY Neonatal Diabetes NGS Panel

Targeted Genes: (30) ABCC8, AKT2, BLK, CEL, CISD2, CP, EIF2AK3, FOXP3, GATA6, GCK, GLIS3, GLUD1, HADH, HNF1A, HNF1B, HNF4A, IER3IP1, INS, INSR, KCNJ11, KLF11, NEUROD1, NEUROG3, PAX4, PDX1, PTF1A, RFX6, SLC2A2, WFS1, ZFP57
Source: Fulgent Diagnostics

NEONATAL DIABETES MELLITUS AND MATURITY-ONSET DIABETES OF THE YOUNG SEQUENCING PANEL

Targeted Genes
ABCC8 AKT2 BLK CEL CISD2 CP EIF2AK3 FOXP3 GATA4 GATA6 GCK GLIS3 GLUD1 HADH IER3IP1 INS INSR KCNJ11 KLF11 MNX1 NEUROD1 NEUROG3 NKX2-2 PAX4 PDX1 PTF1A RFX6 SLC2A2 WFS1 ZFP57

Disorders
Neonatal diabetes
Diabetes
Maturity Onset Diabetes of the Young

Source: UCGS

NEONATAL DIABETES MELLITUS SEQUENCING PANEL

Targeted Genes
ABCC8 EIF2AK3 FOXP3 GATA4 GCK INS KCNJ11 MNX1 NKX2-2 PDX1 ZFP57

Disorders
Neonatal diabetes
Diabetes

Source: UCGS


Endocrinology

46,XY DISORDERS OF SEX DEVELOPMENT/COMPLETE GONADAL DYSGENESIS SEQUENCING PANEL

Targeted Genes
AKR1C2 AMH AMHR2 AR ARX ATRX B3GALTL CYB5A CYP11A1 CYP17A1 DHCR7 DHH DYNC2H1 GATA4 HCCS HSD17B3 LHCGR MAMLD1 MAP3K1 NR5A1 OPHN1 SOX9 SRD5A2 SRY WT1 ZFPM2

Disorders
Disorder of sex development, complete gonadal dysgenesis

Source: UCGS

ABNORMAL/AMBIGUOUS GENITALIA SEQUENCING PANEL

Targeted Genes
AKR1C2 AR ARX ATRX B3GALTL BCOR BMP4 CDKN1C CEP41 CHD7 CREBBP CYB5A CYP11A1 CYP11B1 CYP17A1 CYP19A1 CYP21A2 DHCR24 DHCR7 DHH DNMT3B DYNC2H1 ESCO2 FAM58A FAT4 FEZF1 FIG4 FRAS1 FREM2 GATA4 GRIP1 HCCS HOXA13 HSD17B3 HSD3B2 ICK IL17RD IRF6 KAL1 KISS1R LHCGR LMNA MAP3K1 MKKS MKS1 NEK1 NR0B1 NR5A1 NSMF OPHN1 POR PTPN11 RIPK4 ROR2 RSPO1 SALL1 SCARF2 SEMA3A SETBP1 SOX9 SPECC1L SRD5A2 SRY STAR TBX15 TCTN3 TSPYL1 UBR1 WDR60 WNT4 WNT7A WT1 ZFPM2

Disorders
Ambiguous genitalia, complete gonadal dysgenesis, Disorder of sex development

Source: UCGS

Chronic Pancreatitis NGS Panel

Targeted Genes: CASR, CFTR, CTRC, PRSS1, SPINK1
Source: Fulgent Diagnostics

Endocrine Disorders: Sequencing Panel

The Endocrine Disorders Panel primarily tests for two broad categories of endocrine disorders: (1) disorders of sexual development (DSD) and hormone production, and (2) transient or permanent neonatal diabetes mellitus (NDM) and maturity onset diabetes of the young (MODY). DSD may manifest in infancy with ambiguous genitalia or at puberty when atypical sexual development occurs.
Targeted genes: (57) ABCC8, AGPAT2, AKT2, BLK, BMP15, BSCL2, CHD7, CIDEC, CISD2, CYP17A1, CYP19A1, EIF2AK3, FGF8, FGFR1, FIGLA, FOXP3, FSHR, GATA6, GCK, GDF9, GLIS3, GNRH1, GNRHR, HADH, HNF1A, HNF1B, HNF4A, IER3IP1, INS, INSR, KCNJ11, KISS1, KISS1R, KLF11, LHCGR, LMNA, NEUROD1, NOBOX, NR0B1, NR5A1, NSMF, PAX4, PDX1, POR, PPARG, PROK2, PROKR2, PSMC3IP, PTF1A, PTRF, RFX6, SLC2A2, TAC3, TACR3, TBC1D4, WFS1, ZMPSTE24
Source: Emory Genetics Laboratory

Hypogonadotropic Hypogonadism Gene Sequencing and Del/Dup Panel

Targeted genes: CHD7, FGF8, FGFR1, GNRH1, GNRHR, KAL1, KISS1, KISS1R, NR0B1, NSMF (NELF), PROK2, PROKR2, TAC3, TACR3

Disorders:
46,XY Disorder of Sex Development
Adrenal Hypoplasia Congenita (AHC), X-linked
CHARGE Syndrome
Hypogonadotropic Hypogonadism (HH)
Kallmann Syndrome

Source: GeneDx

HYPOSPADIAS SEQUENCING PANEL

Targeted Genes
AR ARX ATRX B3GALTL BCOR BMP4 CDKN1C CREBBP CUL7 CYP11A1 CYP21A2 DHCR7 DNMT3B EFNB1 EPG5 ESCO2 EVC EVC2 FAT4 FBXL4 FGF10 FGFR1 FGFR2 FGFR3 FIG4 FLNA FRAS1 FREM2 GLI3 GPC3 GRIP1 HBA1 HCCS HNF1B HOXA13 HSD3B2 IRF6 MAMLD1 MAP3K1 MED12 MID1 MKKS NR5A1 PCNT PDE4D PEX1 PITX2 PTDSS1 PTPN11 RBBP8 SALL1 SETBP1 SOX2 SPECC1L SRD5A2 TMEM70 TP63 UBR1 WDR35 WNT7A WT1 ZEB2

Source: UCGS

Kallmann syndrome/Gonadotropin-releasing hormone deficiency panel

Targeted genes: CHD7, FGF8, FGFR1, GNRH1, GNRHR, HESX1, KAL1, KISS1, KISS1R, PROK2, PROKR2, SEMA3A, TAC3, TACR3

Source: Centogene

Kallmann Syndrome NGS Panel

Targeted Genes: ANOS1, CHD7, FGF8, FGFR1, GNRH1, GNRHR, KISS1, KISS1R, NSMF, PROKR2, SEMA3A, TAC3, TACR3
Source: Fulgent Diagnostics

Multiple endocrine neoplasias /paraganglioma/pheochromocytoma panel

Targeted genes: CDKN1B, MAX, MEN1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL

Source: Centogene

Pancreatitis, chronic (NGS panel)

Targeted genes: CFTR,CTRC,PRSS1,SPINK1,PRSS2

Source: CGC Genetics

Pancreatitis panel

Targeted genes: CFTR, CPA1, CTRC, PRSS1, SPINK1

Source: Centogene

PGL/PCC (Paraganglioma/Pheochromocytoma) Panel

Targeted genes: FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL

Disorders:
Paraganglioma
Pheochromocytoma

Source: GeneDx

Premature Ovarian Failure Sequencing Panel

Targeted genes: BMP15, CYP17A1, CYP19A1, FIGLA, FSHR, GDF9, LHCGR, NOBOX, NR5A1, POR, PSMC3IP

Premature ovarian failure (POF) is defined as amenorrhea in women under the age of 40, elevated gonadotropin levels and reduced estrogen levels. POF is a common condition, affecting about 1% of women. POF may present as an absence of menarche (primary amenorrhea) or as premature postpubertal amenorrhea (secondary amenorrhea). Loss of ovarian function may be the result of an absence of follicles, an increased rate of follicular atresia, or follicular unresponsiveness to hormone stimulation.

Source: GeneDx


Epilepsis

Benign Familial Neonatal / Infantile Seizures (BFNS/BFIS)

Multi Gene Panel (4 Genes)
Targeted genes: KCNQ2 KCNQ3 PRRT2 SCN2A
Source: Medical Genetics Center

Childhood-Onset Epilepsy Panel

Targeted genes: ADSL, CACNA1A, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, DYRK1A, EEF1A2, EPM2A, FOLR1, FOXG1, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GOSR2, GRIN1, GRIN2A, IQSEC2, KANSL1, KCNT1, KCTD7, LGI1, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NHLRC1, NRXN1, PCDH19, PNKP, POLG, PPT1, PRICKLE1, SCN1A, SCN1B, SCN2A, SLC2A1, SLC6A8, SLC9A6, TBC1D24, TCF4, TPP1 (CLN2), UBE3A, WDR45, ZEB2

Disorders:
Adenylosuccinate Lyase Deficiency
Alpers syndrome (Alpers-Huttenlocher syndrome)
Angelman syndrome (AS)
Angelman-like syndrome, X-linked syndromic mental retardation (Christianson type)
Atypical Rett Syndrome
Creatine Deficiency Syndromes
Epilepsy and Mental Retardation Limited to Females
Epilepsy with Variable Learning and Behavioral Disorders
Generalized Epilepsy with Febrile Seizures Plus (GEFS+)
Glucose Transporter Type I Deficiency Syndrome
Microcephaly with Early-Onset Intractable Seizures and Developmental Delay (MCSZ)
Mowat-Wilson Syndrome
Neuronal Ceroid Lipofuscinoses (NCL)
Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant
Partial Epilepsy with Auditory Features, Autosomal Dominant
Progressive Myoclonic Epilepsy
Rett syndrome

Source: GeneDx

Comprehensive Epilepsy Panel

Targeted genes: ADSL, ALDH7A1, ALG13, ARHGEF9, ARX, ATP1A2, ATP6AP2, CACNA1A, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, DNAJC5, DNM1, DYRK1A, EEF1A2, EPM2A, FOLR1, FOXG1, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GOSR2, GRIN1, GRIN2A, GRIN2B, IQSEC2, KANSL1, KCNB1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, LGI1, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NHLRC1, NR2F1, NRXN1, PCDH19, PIGA, PIGO, PIGV, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRRT2, QARS, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SLC13A5, SLC25A22, SLC2A1, SLC6A8, SLC9A6, SPTAN1, STXBP1, TBC1D24, TCF4, TPP1 (CLN2), TSC1, TSC2, UBE3A, WDR45, WWOX, ZEB2

Disorders:
Adenylosuccinate Lyase Deficiency
Alpers syndrome (Alpers-Huttenlocher syndrome)
Angelman syndrome (AS)
Angelman-like syndrome, X-linked syndromic mental retardation (Christianson type)
Atypical Rett Syndrome
Benign Familial Neonatal Seizures (BFNS)
Benign Familial Neonatal-Infantile Seizures (BFNIS)
Creatine Deficiency Syndromes
Early-Onset Epileptic Encephalopathy and/or Infantile Spasms
Epilepsy and Mental Retardation Limited to Females
Epilepsy with Variable Learning and Behavioral Disorders
Generalized Epilepsy with Febrile Seizures Plus (GEFS+)
Glucose Transporter Type I Deficiency Syndrome
Lafora Disease
Microcephaly with Early-Onset Intractable Seizures and Developmental Delay (MCSZ)
Mowat-Wilson Syndrome
Neuronal Ceroid Lipofuscinoses (NCL)
Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant
Ohtahara Syndrome
Partial Epilepsy with Auditory Features, Autosomal Dominant
Progressive Myoclonic Epilepsy
Pyridoxine Dependent Seizures
Rett syndrome
Unverricht-Lundborg Disease (Baltic Myoclonus)
West Syndrome

Source: GeneDx

Courtagen’s epiSEEK® Comprehensive Sequence Analysis test

Courtagen’s epiSEEK® Comprehensive Sequence Analysis test provides extensive genetic analysis and clinical interpretation of data generated by the complete sequencing of 471 genes associated with epileptic and seizure disorder phenotypes. The updated panel includes several recently published genes. Multiple categories of disorders from earlier panel designs were expanded, including inborn errors of metabolism, congenital disorders of glycosylation, peroxisomal biogenesis disorders, seizures related to intellectual disability, and drug metabolism (cytochrome P450 genes and genes in the cannabinoid and cannabadiol pathways).
Source: Courtagen

Website

Dravet syndrome panel

Targeted genes: SCN1A, GABRG2, SCN2A, SCN9A

Source: Centogene

Early infantile epileptic encephalopathy (NGS panel)

Targeted genes (26): ARHGEF9, ARX, CDKL5, DNM1, DOCK7, GABRA1, GNAO1, GRIN2B, HCN1, KCNB1, KCNQ2, KCNT1, PCDH19, PLCB1, PNKP, SCN1A, SCN2A, SCN8A, SLC13A5, SLC25A22, SPTAN1, ST3GAL3, STXBP1, SZT2, TBC1D24, WWOX

Source: CGC Genetics

EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY (EIEE) PANEL

Targeted Genes
ALDH7A1 ARFGEF2 ARGGEF15 ARHGEF9 ARX CDKL5 CHD2 CLCN4 EEF1A2 EFHC1 GNAO1 GRIN2A KCNH5 KCNQ2 KCNT1 PCDH19 PLCB1 PNKP PNPO POLG SCN1A SCN2A SCN8A SLC25A22 SLC2A1 SPTAN1 ST3GAL3 ST3GAL5 STXBP1 SZT2

Disorders
Early infantile epileptic encephalopathy
Epilepsy

Source: UCGS

Early infantile epileptic encephalopathy panel

Targeted genes: ARX, CDKL5, SLC25A22, STXBP1, SPTAN1, SCN1A, KCNQ2, KCNT1, ARHGEF9, PCDH19, PNKP, SCN2A, SCN8A, PLCB1

Source: Centogene

Epilepsy

Multi Gene Panel (212 Genes)
Targeted genes: ALDH7A1 AMACR ARHGEF15 ARHGEF9 ARX ASAH1 ATP13A2 ATP1A2 C19orf12 CACNA1A CACNA1H CACNB4 CASR CDKL5 CHD2 CHD8 CHRNA2 CHRNA4 CHRNB2 CLCN4 CLN3 CLN5 CLN6 CLP1 CP CSTB DCAF17 DEPDC5 DOCK7 DPAGT1 DPM2 DYRK1A EARS2 EEF1A2 EFHC1 EIF2AK3 EIF2B3 EPM2A ETFA ETFB ETFDH ETHE1 FA2H FAM126A FARS2 FASTKD2 FBXL4 FLAD1 FOLR1 FOXG1 FOXRED1 FTL GABRA1 GABRD GABRG2 GAMT GFAP GFER GFM1 GLDC GMPPB GOSR2 GPHN GRIN2A HADH HCN1 HEXA HEXB HNRNPDL HNRNPU IBA57 KCNC1 KCNH5 KCNQ2 KCNQ3 KCNT1 KCTD7 LGI1 LRPPRC LYRM7 MARS2 MBD5 MECP2 MEF2C MICU1 MPV17 MRPS16 MRPS22 MTFMT MTO1 MTPAP MYBPC1 NDUFA1 NDUFA12 NDUFA2 NDUFA9 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEU1 NFU1 NHLRC1 NOL3 NPC1 NPC2 NUBPL OPA1 PANK2 PC PCDH19 PDHA1 PDHB PDHX PDP1 PDSS1 PDSS2 PHGDH PLA2G6 PLCB1 PLP1 PNKP PNPO PNPT1 POLG POLR3A POLR3B PPT1 PPT2 PRICKLE1 PRICKLE2 PRRT2 PTCD1 PUS1 QARS RARS2 RMND1 RRM2B SARS2 SCARB2 SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHAF1 SDHAF2 SDHB SDHC SDHD SERAC1 SGCE SLC19A2 SLC19A3 SLC25A12 SLC25A19 SLC25A20 SLC25A22 SLC25A3 SLC25A4 SLC2A1 SLC33A1 SLC6A8 SPG7 SPTAN1 STX1B STXBP1 SUCLA2 SUCLG1 SURF1 SYNE1 SYNGAP1 SYNJ1 TACO1 TARS2 TAZ TBC1D24 TIMM8A TK2 TMEM70 TPK1 TPP1 TRIT1 TRMU TSFM TTC19 TUBB2A TUBB4A TUFM TYMP UBE3A UQCRB UQCRC2 UQCRQ VARS2 WDR45 WFS1 YARS2
Source: Medical Genetics Center

Epilepsy (absence) in childhood panel

Targeted genes: CACNA1H, GABRA1, GABRB3, GABRG2, JRK, SLC2A1

Source: Centogene

Epilepsy and Hypomyelination

Multi Gene Panel (8 Genes)
Targeted genes: EIF2B3 FAM126A FOLR1 PLP1 POLR3A POLR3B SPTAN1 TUBB4A
Source: Medical Genetics Center

Epilepsy and Mitochondrial Encephalopathy

Multi Gene Panel (186 Genes)
Targeted genes: ALDH7A1 ARHGEF15 ARHGEF9 ARX ASAH1 C19orf12 CDKL5 CHD2 CLCN4 CLN3 CLN5 CLN6 CLP1 CP CSTB DCAF17 DOCK7 DPAGT1 DPM2 EARS2 EEF1A2 EFHC1 EIF2AK3 EPM2A ETFA ETFB ETFDH ETHE1 FA2H FARS2 FASTKD2 FBXL4 FLAD1 FOLR1 FOXG1 FOXRED1 GABRA1 GABRD GABRG2 GAMT GFAP GFER GFM1 GLDC GOSR2 GPHN GRIN2A HADH HCN1 HEXA HEXB HNRNPDL HNRNPU IBA57 KCNC1 KCNH5 KCNQ2 KCNQ3 KCNT1 KCTD7 LRPPRC LYRM7 MARS2 MBD5 MECP2 MEF2C MICU1 MPV17 MRPS16 MRPS22 MTFMT MTO1 MTPAP NDUFA1 NDUFA12 NDUFA2 NDUFA9 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEU1 NFU1 NHLRC1 NPC1 NPC2 NUBPL OPA1 PANK2 PC PCDH19 PDHA1 PDHB PDHX PDP1 PDSS1 PDSS2 PHGDH PLCB1 PNKP PNPO PNPT1 POLG PPT1 PPT2 PRICKLE1 PRICKLE2 PRRT2 PTCD1 PUS1 QARS RARS2 RMND1 RRM2B SARS2 SCARB2 SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHAF1 SDHAF2 SDHB SDHC SDHD SERAC1 SGCE SLC19A2 SLC19A3 SLC25A12 SLC25A19 SLC25A20 SLC25A22 SLC25A3 SLC25A4 SLC2A1 SLC33A1 SLC6A8 SPG7 SPTAN1 STXBP1 SUCLA2 SUCLG1 SURF1 SYNE1 SYNGAP1 SYNJ1 TACO1 TARS2 TAZ TBC1D24 TIMM8A TK2 TMEM70 TPK1 TPP1 TRIT1 TRMU TSFM TTC19 TUBB2A TUFM TYMP UBE3A UQCRB UQCRC2 UQCRQ VARS2 WDR45 WFS1 YARS2
Source: Medical Genetics Center

Epilepsy (generalized) with febrile seizures panel

Targeted genes: GABRD, GABRG2, SCN1A, SCN1B, SCN2A, SCN9A

Source: Centogene

Epilepsy NGS Panel

Targeted Genes: (343) ABAT, ABCB1, ABCC8, ACY1, ADCK3, ADGRG1, ADGRV1, ADSL, AGA, AHI1, ALDH4A1, ALDH5A1, ALDH7A1, ALG1, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, AMT, APTX, ARFGEF2, ARG1, ARHGEF9, ARL13B, ARSA, ARSB, ARX, ASPA, ASPM, ATIC, ATP1A2, ATP2A2, ATP6AP2, ATP6V0A2, ATPAF2, ATR, ATRX, B4GALT1, BCS1L, BRAF, BTD, BUB1B, C12orf65, CACNA1A, CACNA1H, CACNB4, CASK, CASR, CBL, CC2D2A, CCL2, CDK5RAP2, CDKL5, CDON, CELSR1, CENPJ, CEP152, CEP290, CHRNA2, CHRNA4, CHRNB2, CLCN2, CLCNKA, CLCNKB, CLN3, CLN5, CLN6, CLN8, CNTNAP2, COG1, COG7, COG8, COL18A1, COL4A1, COQ2, COQ9, COX15, CPT2, CSTB, CTSA, CTSD, CUL4B, DCX, DLD, DOLK, DPAGT1, DPM1, DPM3, DPYD, EFHC1, EFHC2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EMX2, EPM2A, ETFA, ETFB, ETFDH, FGD1, FGF8, FGFR3, FH, FKRP, FKTN, FLNA, FLVCR2, FOLR1, FOXG1, FUCA1, GABRA1, GABRB3, GABRD, GABRG2, GALC, GALNS, GAMT, GATM, GCDH, GCSH, GFAP, GLB1, GLDC, GLI2, GLI3, GLRA1, GLRB, GNE, GNPTAB, GNPTG, GNS, GPC3, GPHN, GRIA3, GRIN1, GRIN2A, GRIN2B, GUSB, HCN1, HCN4, HEXA, HEXB, HGSNAT, HPD, HRAS, HSD17B10, IDS, IDUA, KAT6B, KCNA1, KCNJ1, KCNJ10, KCNJ11, KCNMA1, KCNQ2, KCNQ3, KCNV2, KCTD7, KDM5C, KIAA1279, KMT2D, KRAS, L2HGDH, LAMA2, LARGE, LBR, LGI1, LIG4, LRPPRC, MAGI2, MAP2K1, MAP2K2, MAPK10, MBD5, MCOLN1, MCPH1, MECP2, MED17, MEF2C, MFSD8, MGAT2, MLC1, MOCS1, MOCS2, MOGS, MPDU1, MPI, MTHFR, NAGLU, NDE1, NDUFA1, NDUFA2, NDUFS1, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEU1, NF1, NHEJ1, NHLRC1, NIPBL, NODAL, NOTCH3, NPC1, NPC2, NPHP1, NRAS, NRXN1, OFD1, OPHN1, PAFAH1B1, PAK3, PANK2, PAX6, PC, PCDH19, PCNT, PDHA1, PDSS1, PDSS2, PEX1, PEX12, PEX14, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PHF6, PIGV, PLA2G6, PLCB1, PLP1, PMM2, PNKP, PNPO, POLG, POMGNT1, POMT1, POMT2, PPT1, PQBP1, PRICKLE1, PRICKLE2, PRODH, PRRT2, PSAP, PTCH1, PTPN11, QDPR, RAB39B, RAB3GAP1, RAF1, RAI1, RARS2, RELN, RFT1, RNASEH2A, RNASEH2B, RNASEH2C, RPGRIP1L, SAMHD1, SCARB2, SCN10A, SCN1A, SCN1B, SCN2A, SCN2B, SCN3A, SCN3B, SCN4A, SCN4B, SCN5A, SCN8A, SCN9A, SCO2, SDHA, SERPINI1, SETBP1, SGSH, SHH, SHOC2, SIX3, SLC17A5, SLC25A15, SLC25A19, SLC25A22, SLC2A1, SLC35A1, SLC35C1, SLC46A1, SLC6A5, SLC9A6, SMC1A, SMC3, SMPD1, SMS, SNAP29, SOS1, SPRED1, SPTAN1, SRPX2, STIL, STXBP1, SUMF1, SUOX, SYN1, SYNGAP1, SYP, TACO1, TBC1D24, TBX1, TCF4, TGIF1, TMEM216, TMEM67, TMEM70, TPP1, TREX1, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB2B, UBE3A, VANGL1, VPS13A, VPS13B, VRK1, WDR62, ZEB2, ZIC2
Source: Fulgent Diagnostics

Epilepsy (partial) hereditary panel

Targeted genes: CACNA1H, CACNB4, CHRNA2, CHRNA4, CHRNB2, CLCN2, CPA6, DEPDC5, EFHC1, GABRA1, GABRB3, GABRD, GABRG2, JRK, KCNMA1, KCNQ2, KCNQ3, KCNT1, LGI1, MT-ATP6, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC2A1, SRPX2

Source: Centogene

Epileptic encephalopathy

Targeted genes: ACY1, ADSL, ALDH7A1, AMT, ARHGEF9, ARX, CDKL5, CHD2, CNTNAP2, CPT2, DNM1, DOCK7, FOLR1, FOXG1, GABRA1, GABRG2, GAMT, GCSH, GLDC, GNAO1, GRIN1, GRIN2A, GRIN2B, HCN1, KCNB1, KCNJ10, KCNQ2, KCNT1, MAGI2, MAPK10, MBD5, MECP2, MTHFR, NRXN1, PCDH19, PLCB1, PNKP, PNPO, PRRT2, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, SAMHD1, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC13A5, SLC19A3, SLC25A22, SLC2A1, SLC9A6, SPTAN1, SRGAP2, ST3GAL3, STXBP1, SYNGAP1, SZT2, TBC1D24, TBCE, TCF4, TREX1, UBE3A, WWOX, ZEB2

Source: CGC Genetics

Epileptic Encephalopathy

Multi Gene Panel (89 Genes)
Targeted genes: ALDH7A1 AMACR ARHGEF15 ARHGEF9 ARX ASAH1 ATP13A2 C19orf12 CDKL5 CHD2 CLCN4 CLN3 CLN5 CLN6 CLP1 CP CSTB DCAF17 DOCK7 DPM2 EEF1A2 EFHC1 EPM2A FA2H FOLR1 FOXG1 FTL GABRA1 GABRD GABRG2 GAMT GFAP GLDC GOSR2 GPHN GRIN2A HADH HCN1 HEXA HEXB HNRNPDL HNRNPU IBA57 KCNC1 KCNH5 KCNQ2 KCNQ3 KCNT1 KCTD7 MBD5 MECP2 MEF2C NEU1 NHLRC1 NPC1 NPC2 PANK2 PCDH19 PHGDH PLA2G6 PLCB1 PNKP PNPO POLG PPT1 PPT2 PRICKLE1 PRICKLE2 PRRT2 QARS SCARB2 SCN1A SCN1B SCN2A SCN8A SGCE SLC25A22 SLC2A1 SPTAN1 STX1B STXBP1 SYNE1 SYNGAP1 SYNJ1 TBC1D24 TPP1 TUBB2A UBE3A WDR45
Source: Medical Genetics Center

Epileptic encephalopathy panel

Targeted genes: ACY1, ADSL, ALDH7A1, AMT, ARHGEF9, ARX, CDKL5, CNTNAP2, CPT2, FOLR1, FOXG1, GABRG2, GAMT, GCSH, GLDC, GRIN2A, GRIN2B, KCNJ10, KCNQ2, MAPK10, MECP2, MTHFR, NRXN1, PCDH19, PLCB1, PNKP, PNPO, PRRT2, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC19A3, SLC25A22, SLC2A1, SLC9A6, SPTAN1, STXBP1, TBCE, TCF4, TREX1, UBE3A, ZEB2

Source: Centogene

EPINEXT

EpiNext is our broad, comprehensive epilepsy panel that includes 100 genes known to cause a variety of epilepsies. EpiNext is an appropriate reflex option following any EpiFirst test, allowing for targeted testing of the most relevant genes prior to a broader testing approach. In cases with an unclear history or atypical presentation, EpiNext may be considered an appropriate first-tier test.

Source: Ambry Genetics
Targeted genes: ALDH7A1, ARHGEF9, ARX, ATP1A2, ATP13A2, CACNA1A, CASK, CDKL5,CHD2, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CRH, CSTB, CTSD, CTSF, DCX, DEPDC5, DNAJC5, DNM1, DYRK1A, DYNC1H1, EEF1A2, EPM2A, FLNA, FOLR1, FOXG1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HNRNPU, IQSEC2, KCNA2, KCNC1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, KIAA2022, LGI1, MECP2, MEF2C, MFSD8, NHLRC1, NRXN1, PCDH19, PIGA, PLCB1, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRRT2, PURA, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SIK1, SLC13A5, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMC1A, SNAP25, SPTAN1, ST3GAL3, STX1B, STXBP1, SYN1, SYNGAP1, SZT2, TBC1D24, TBL1XR1, TCF4, TPP1, TSC1, TSC2, UBE3A, WDR45, ZEB2

Familial Focal Epilepsy

Multi Gene Panel (6 Genes)
Targeted genes: CHRNA2 CHRNA4 CHRNB2 DEPDC5 KCNT1 LGI1
Source: Medical Genetics Center

Febrile Seizures

Multi Gene Panel (8 Genes)
Targeted genes: GABRA1 GABRD HCN1 PCDH19 SCN1A SCN1B SCN2A STX1B
Source: Medical Genetics Center

Infantile Epilepsy Panel

Infantile Epilepsy Panel, Sequence Analysis and Exon-Level Deletion/Duplication, 53 Genes
Test includes: ADSL, ALDH7A1, ARX, ATP6AP2, CDKL5, CHRNA7, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CTSD, FOLR1, FOXG1, GABRA1, GABRG2, GAMT, GRIN2A, GRIN2B, KANSL1, KCNJ10, KCNQ2, KCNQ3, KCTD7, LIAS, MAG12, MBD5, MECP2, MEF2C, MFSD8, NRXN1, PCDH19, PNKP, PNPO, POLG, PPT1, PRRT2, SCN1A, SCN1B, SCN2A, SCN8A, SLC25A22, SLC2A1, SLC9A6, SPTAN1, STXBP1, TBC1D24, TCF4, TPP1 (CLN2), TSC1, TSC2, UBE3A, ZEB2
Source: Arup Laboratories

Infantile Epilepsy Panel

Targeted genes: ADSL, ALDH7A1, ALG13, ARHGEF9, ARX, ATP1A2, ATP6AP2, CACNA1A, CDKL5, CHD2, CHRNA7, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CTSD, DNM1, DYRK1A, EEF1A2, FOLR1, FOXG1, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GOSR2, GRIN1, GRIN2A, GRIN2B, IQSEC2, KANSL1, KCNB1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NR2F1, NRXN1, PCDH19, PIGA, PIGO, PIGV, PNKP, PNPO, POLG, PPT1, PRRT2, QARS, SCN1A, SCN1B, SCN2A, SCN8A, SLC13A5, SLC25A22, SLC2A1, SLC6A8, SLC9A6, SPTAN1, STXBP1, TBC1D24, TCF4, TPP1 (CLN2), TSC1, TSC2, UBE3A, WDR45, WWOX, ZEB2

Disorders:
Adenylosuccinate Lyase Deficiency
Angelman syndrome (AS)
Angelman-like syndrome, X-linked syndromic mental retardation (Christianson type)
Atypical Rett Syndrome
Benign Familial Neonatal Seizures (BFNS)
Benign Familial Neonatal-Infantile Seizures (BFNIS)
Creatine Deficiency Syndromes
Early-Onset Epileptic Encephalopathy and/or Infantile Spasms
Generalized Epilepsy with Febrile Seizures Plus (GEFS+)
Glucose Transporter Type I Deficiency Syndrome
Infantile Spasm Syndrome-2, X-linked
Microcephaly with Early-Onset Intractable Seizures and Developmental Delay (MCSZ)
Mowat-Wilson Syndrome
Neuronal Ceroid Lipofuscinoses (NCL)
Ohtahara Syndrome
Pyridoxine Dependent Seizures
Rett syndrome
West Syndrome

Source: GeneDx

Invitae Epilepsy Panel

The Invitae Epilepsy Panel analyzes up to 103 genes that are associated with both syndromic and nonsyndromic causes of epilepsy, a common neurological disease characterized by recurrent, unprovoked seizures. These genes were curated based on the available evidence to date in order to provide a comprehensive analysis for inherited epilepsy.
Source: Invitae

Myoclonic epilepsy panel

Targeted genes: ASAH1, CACNB4, CERS1, CSTB, DRD2, EFHC1, EPM2A, GABRA1, GABRD, GLDC, GOSR2, NEU1, NHLRC1, NOL3, POLG, PRICKLE1, PRICKLE2, SCARB2, SGCE

Source: Centogene

Nocturnal frontal lobe epilepsy (NGS panel)

Targeted genes: CHRNB2, CHRNA2, KCNT1, CHRNA4

Source: CGC Genetics

Progressive Myoclonic Epilepsy

Multi Gene Panel (31 Genes)
Targeted genes: ASAH1 CACNB4 CASR CLN3 CLN5 CLN6 CSTB EFHC1 EPM2A FOLR1 GABRA1 GABRD GLDC GOSR2 HEXA HEXB KCNC1 KCTD7 MYBPC1 NEU1 NHLRC1 NOL3 NPC1 NPC2 POLG PPT1 PRICKLE1 PRICKLE2 SCARB2 SGCE TPP1
Source: Medical Genetics Center

Progressive Myoclonic Epilepsy Panel

Targeted genes: CLN3, CLN5, CLN6, CLN8, CSTB, CTSD, DNAJC5, EPM2A, FOLR1, GOSR2, KCTD7, MFSD8, NHLRC1, PPT1, PRICKLE1, SCARB2, TPP1 (CLN2)

Disorders:
Lafora Disease
Neuronal Ceroid Lipofuscinoses (NCL)
Progressive Myoclonic Epilepsy
Unverricht-Lundborg Disease (Baltic Myoclonus)

Source: GeneDx

STAT Epilepsy Panel

Targeted genes: ALDH7A1, ARX, CDKL5, FOLR1, KCNQ2, KCNQ3, KCNT1, MECP2, MEF2C, PCDH19, PNPO, POLG, SCN1A, SCN1B, SCN2A, SCN8A, SLC2A1, SLC6A8, SPTAN1, STXBP1, TSC1, TSC2

Disorders:
Alpers syndrome (Alpers-Huttenlocher syndrome)
Atypical Rett Syndrome
Benign Familial Neonatal Seizures (BFNS)
Benign Familial Neonatal-Infantile Seizures (BFNIS)
Early-Onset Epileptic Encephalopathy and/or Infantile Spasms
Epilepsy and Mental Retardation Limited to Females
Generalized Epilepsy with Febrile Seizures Plus (GEFS+)
Glucose Transporter Type I Deficiency Syndrome
Ohtahara Syndrome
Progressive Myoclonic Epilepsy
Pyridoxine Dependent Seizures
Rett syndrome
West Syndrome

Source: GeneDx


Epiphyseal Dysplasia

Epiphyseal dysplasia multiple

Targeted genes: COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2

Source: CGC Genetics

Multiple Epiphyseal Dysplasia NGS Panel

Targeted Genes: COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2
Source: Fulgent Diagnostics

Multiple Epiphyseal Dysplasia Panel

Multiple Epiphyseal Dysplasia Panel, Sequencing and Deletion/Duplication, 6 Genes
Genes – COL9A1, COL9A2, COL9A3, COMP, MATN3, and
SLC26A2
Source: Arup Laboratories

Multiple epiphyseal dysplasia panel

Targeted genes: COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2

Source: Centogene


Exome

Clinical Exome

Number of Genes: 4637
Source: Fulgent Diagnostics

Clinical Exome Panel

ApolloGen’s Clinical Exome Panel is designed to cover over 4,800 genes based on the Human Genome Mutation Database, OMIM, and Gene Test. These are genes that have been reported to be associated with human diseases in clinical and scientific researches to date. Comparing to whole genome or exome sequencing, which yields excessive data with many variants of clinical significance uncertainty, clinical exome testing focuses on phenotype-related genes. Note that the Clinical Exome test does not include the sequencing of mitochondrial genes.
Source: ApolloGen

For research use only!

GENETION™ Whole Exome Sequencing

The human exome is the complete collection of regions of the genome that encode protein i.e., all the protein-coding exons of all the protein-coding genes. Whole exome sequencing is the process of selecting and then sequencing these regions of the genome using NGS technology.

Source: Pentacorelab

Ion AmpliSeq™ Exome RDY - IC Kit

The Ion AmpliSeq™ Exome RDY - IC Kit enables the fastest and simplest method of exome enrichment, now even easier with oligo pools for ultra-high multiplex PCR exome enrichment dried down in 96-well plates. With half the number of target amplification pipetting steps compared to the original protocol and the elimination of small pipetting volumes, exome libraries can now be produced with unparalleled ease in less than 6 hours with less than 50 minutes of hands-on time.
Source: Thermo Fisher

Website

LifeTime RareDx test

The LifeTime RareDx test is faster and less expensive than performing multiple individual single gene tests. The sensitivity of the sequencing methodology, based on known coverage statistics, is at least 97% for single nucleotide variants. Sensitivity for small indels is in the same range based on comparison with indel polymorphisms contained within the regions covered by the exome sequence.
Source: Parabase Genomics

Website

SeqCap EZ Exome Kit

The SeqCap EZ Exome Kit v3.0 product covers more than 20,000 genes in the human genome. All the genome coordinates are based on human genome build GRCh37 (hg19).
More than two million oligonucleotide DNA probes capture the target regions. Because the flanking regions of some coding exons and miRNAs are also covered by probes, the total size of the regions covered by probes is 64 Mb.
Source: Roche

Website

xGen® Exome Research Panel

The xGen Exome Research Panel v1.0 consists of 429,826 individually synthesized, and quality controlled xGen Lockdown® Probes—covering 19,396 genes and spanning 39 Mb of the human genome. All probes in the panel are manufactured using GMP standards. Mass spectrometry and OD measurements are taken for each probe to ensure appropriate representation of the correctly manufactured probes in the pool.

Source: IDT


Familial Mutation Testing

Familial Mutation Testing

The following genes are available:
ACADVL, ACADM, ACVRL1, APC, ASS1, ATP7A, BMPR1A, BMPR2, BTD, CCM1, CCM2, CCM3, CDKL5, CFTR, COL4A5, CYP1B1, ENG, F8, F9, FBN1, G6PD, GALT, GJB2; HBA1, HBA2, HBB, INSR, LMNA, MECP2,MEFV, MEN1, MLH1, MSH2; MSH6, MUTYH, MYH3, NF1, OTC, PLOD1, PMS2; PRSS1, PTEN, PTPN11, RASA1, RET, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SMAD4, SPRED1, SPINK1, SOS1, STK11, TACI, TGFBR1, TGFBR2, UBE3A, VHL, VWF
Source: Arup Laboratories


Gastrointestinal Tract

Hirschsprung Disease NGS Panel

Targeted Genes: ECE1, EDN3, EDNRB, GDNF, RET
Source: Fulgent Diagnostics

Hirschsprung disease panel

Targeted genes: ECE1, EDN3, EDNRB, GDNF, KIAA1279, NRG1, NRTN, RET, SOX10, ZEB2

Source: Centogene


Glycogen Storage Disorder

Glycogen storage disease

Targeted genes: AGL, ALDOA, ENO3, G6PC, GAA, GBE1, GYG1, GYS1, GYS2, LDHA, PFKM, PGAM2, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PYGL, PYGM, SLC2A2, SLC37A4

Source: CGC Genetics

Glycogen storage disease panel (advanced)

Targeted genes: GYS1, GYS2, G6PC, SLC37A4, GAA, AGL, GBE1, PYGM, PYGL, PFKM, PHKA2, PGAM2, LDHA, ALDOA, ENO3, PHKB, PHKA1, PGM1, GYG1, PRKAG2, PHKG2

Source: Centogene

Centogene also offers a glycogen storage disease panal basic

Glycogen Storage Disorders- Liver: Sequencing Panel

Glycogen storage disorders (GSDs) are a group of inherited genetic defects of glycogen metabolism. Most of them have autosomal recessive inheritance, however there are a few exceptions. There are more than 20 subtypes classified by the specific enzyme deficiency, affected tissue, and disease phenotype. Clinical and biochemical features continue to be used reliably to assign patients to this general disease category.
Targeted genes:(11) AGL, FBP1, G6PC, GBE1, GYS2, PHKA2, PHKB, PHKG2, PYGL, SLC2A2, SLC37A4
Source: Emory Genetics Laboratory


Hedgehog Signal Transduction

TruSeq Targeted RNA Expression Hedgehog Panel

The TruSeq Targeted RNA Expression Hedgehog Panel is a predesigned gene expression profiling solution for studying hedgehog signaling. The panel includes assays targeting 76 genes involved in upstream and downstream signal transduction, as well as transcription factors and target genes. All TruSeq Targeted RNA fixed panels are experimentally validated to ensure strong correlation with RNA sequencing.
Source. Illumina

Website


Hematology (see also Cardiology) 

Agammaglobulinemia panel

Targeted genes: BLNK, BTK, CD79A, CD79B, IGHM, IGLL1, LRRC8A, PIK3R1, SH2D1A

Source: Centogene

Aortic aneurysm, hereditary thoracic panel

Targeted genes: MYH11, ACTA2, TGFBR1, TGFBR2, FBN1, COL3A1, SMAD3, CBS, FBN2, SLC2A10, MYLK, TGFB2, TGFB3

Source: Centogene

Congenital Sideroblastic Anemia Panel

Targeted genes: ABCB7, ALAS2, GLRX5, PUS1, SLC19A2, SLC25A38, TRNT1, YARS2

Disorders:
Congenital Sideroblastic Anemia with B-cell Immunodeficiency, Periodic fevers, and Developmental delay (SIFD)
Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia (MLASA)
Pearson Syndrome
Pyridoxine-Refractory Sideroblastic Anemia, Autosomal Recessive
Sideroblastic Anemia
Sideroblastic Anemia with Spinocerebellar Ataxia
Sideroblastic Anemia, X-linked
Thiamine-Responsive Megaloblastic Anemia Syndrome (TRMA)

Source: GeneDx

Diamond-Blackfan Anemia NGS Panel

Targeted Genes: GATA1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7
Source: Fulgent Diagnostics

Diamond-Blackfan anemia panel

Targeted genes: RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7
Source: Centogene

DIAMOND-BLACKFAN ANEMIA SEQUENCING PANEL

Targeted Genes
RPL11 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7

Source: UCGS

Dolichoectasia panel

Targeted genes: COL4A1, COL4A2, GAA, MMP3, PKD1, PKD2, SLC2A10

Source: Centogene

Fanconi anemia

Targeted genes: BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, RAD51C, SLX4

Source: CGC Genetics

Fanconi Anemia NGS Panel

Targeted Genes: BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, RAD51C, SLX4
Source: Fulgent Diagnostics

Fanconi anemia panel

Targeted genes: BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, SLX4, XRCC2

Source: Centogene

FANCONI ANEMIA SEQUENCING PANEL

Targeted Genes
BRCA2 BRIP1 ERCC4 FANCA FANCb FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL PALB2 RAD51C SLX4 XRCC2

Source: UCGS

Hereditary Hemolytic Anemia Sequencing

Hereditary Hemolytic Anemia Sequencing, 28 Genes
Confirms etiology of hemolytic anemia in individuals with hemolysis or a family history of hemolytic anemia.
Genes tested: ADA, AK1, ALDOA, ANK1, CYB5R3, EPB41, EPB42, G6PD, GCLC, GP1, GSR, GSS, HK1, NT5C3A, PFKL, PGK1,PFKM, PIEZO1, PKLR, SLC4A1, SLCO1B1, SLCO1B3, SPTA1, SPTB, TPI1, UGT1A1, UGT1A6, UGT1A7
Source: Arup Laboratories

Hereditary Spherocytosis NGS Panel

Targeted Genes: ANK1, EPB42, SLC4A1, SPTA1, SPTB
Source: Fulgent Diagnostics

Invitae Glanzmann Thrombasthenia Panel

This test analyzes ITGA2B and ITGB3, the two genes that are associated with Glanzmann thrombasthenia. Glanzmann thrombasthenia is a rare disorder in which an absence or dysfunction of the αIIbβ3 receptor on platelets results in spontaneous bruising and mucocutaneous bleeding.
Source: Invitae

Invitae Hereditary Hemochromatosis Panel

The Invitae Hereditary Hemochromatosis Panel analyzes five genes associated with hereditary hemochromatosis (HH), a genetic disorder that causes increased iron absorption and can lead to iron overload. These genes were curated, based on the available evidence to date, to provide a comprehensive test for indications related to hemochromatosis-related iron overload.
Source: Invitae

Invitae Hereditary Thrombophilia Panel

The Invitae Hereditary Thrombophilia Panel analyzes five genes that are associated with an increased risk for developing thromboembolism. Individuals who have inherited a pathogenic variant in one of these genes have a predisposition to excessive blood clot formation, most often in the legs (deep vein thrombosis). Women with hereditary thrombophilia also have an increased risk of miscarriage and other pregnancy complications.
Source: Invitae

Megaloblastic anemia panel

Targeted genes: AMN, CUBN, GIF

Source: Centogene

Spherocytosis panel

Targeted genes: ANK1, EPB42, SLC4A1, SPTA1, SPTB

Source: Centogene

Thrombocytopenia panel

Targeted genes: ADAMTS13, ANKRD26, CYCS, GATA1, GP1BA, GP1BB, GP9, ITGA2B, ITGB3, MASTL, MPL, MYH9, RUNX1, WAS

Source: Centogene

Thrombo Incode

Personalizes risk assessment for blood clotting disorders.
Analyzes seven genes related with elevated risk of thrombosis.

Source: Selah Genomics

Vascular Malformations Panel

Vascular Malformations Panel, Sequencing and Deletion/Duplication, 14 Genes
Preferred DNA test to confirm clinical diagnosis of genetic related vascular malformations (ie, capillary malformation-arteriovenous malformation syndrome, cerebral cavernous malformation, glomuvenous malformation, hereditary hemorrhagic telangiectasia, juvenile polyposis syndrome/hereditary hemorrhagic telangiectasia, multiple cutaneous and mucosal venous malformations, Parkes Weber syndrome, PTEN-related Proteus syndrome).
Source: Arup Laboratories


Hereditary Hemorrhagic Telangiectasia (HHT)

Hereditary Hemorrhagic Telangiectasia NGS Panel

Targeted Genes: ACVRL1, ATM, ENG, RASA1, SMAD4
Source: Fulgent Diagnostics

Hereditary hemorrhagic telangiectasia panel

Targeted genes: ACVRL1, ADAM17, ENG, GDF2, PTPN14, RASA1, SMAD4

Source: Centogene

Invitae Hereditary Hemorrhagic Telangiectasia Panel

This test is for individuals with a clinical diagnosis of hereditary hemorrhagic telangiectasia (HHT). The primary Invitae Hereditary Hemorrhagic Telangiectasia Panel includes four genes that are definitively associated with HHT.
In addition to the primary panel, clinicians can also choose to include the gene GDF2, which has limited evidence of association with HHT. At this time, the association of GDF2 with HHT remains uncertain. However, some clinicians may wish to include GDF2 because it may prove to be clinically significant in the future.
Source: Invitae


Hermansky-Pudlak Syndrome

Hermansky-Pudlak Syndrome NGS Panel

Targeted Genes: AP3B1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5, HPS6
Source: Fulgent Diagnostics


Heterotaxy and Situs Inversus

Heterotaxy and Situs Inversus NGS Panel

Targeted Genes: ACVR2B, CCDC39, CCDC40, CFC1, DNAAF1, DNAAF2, DNAAF3, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, FOXH1, GDF1, INVS, LEFTY2, NKX2-5, NME8, NODAL, ZIC3
Source: Fulgent Diagnostics

Heterotaxy panel

Targeted genes: ACVR2B, CFC1, CRELD1, GJA1, GDF1, FOXH1, LEFTY2, NKX2-5, NODAL, ZIC3

Source: Centogene

Kartagener’s Syndrome/Heterotaxy with Chronic Respiratory Infections NGS Panel

Targeted Genes: CCDC39, CCDC40, DNAAF1, DNAAF2, DNAAF3, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, NME8
Source: Fulgent Diagnostics


Hypercholesterolemia

ADH MASTR v2

The ADH MASTR v2 is a molecular assay (research use only) for the identification of all SNVs and CNVs in LDLR, PCSK9, APOE, part of exon 26 (c.10200 to c.11100) of APOB and 12 SNPs underlying Autosomal Dominant Hypercholesterolemia. Multiplicom’s ADH MASTR v2 assay is provided as a ready-to-use kit that offers robust performance with minimum hands-on time. All reagents necessary to enable multiplex amplification of 76 amplicons (300-430 bp) in 5 PCR reactions are included, for complete coverage of all coding and selected promotor sequences of the genes, as well as for 12 SNPs. The assay is compatible with all current Massively Parallel Sequencing (MPS) systems, providing the flexibility to choose your preferred method.
Source: Multiplicom

Website

Familial Hypercholesterolemia Panel

ApolloGen’s familial hypercholesterolemia detects target genes associated with inherited hypercholesterolemia and other lipid and lipoprotein metabolism disorders. Hypercholesterolemia is frequently associated with Coronary Artery Disease (CAD) and/or Ischemic Heart Disease (IHD), and in this context this panel can complement the Comprehensive Cariomyopathy Panel also offered by ApolloGen. One or more of the genes covered in this panel have also been associated with atherosclerosis, cholesteryl ester storage disease, hyperlipoproteinemia, hypertriglyceridemia, Niemann-Pick disease, sitosterolemia, Tangier disease, Wolman disease.
Targeted genes: ABCA1,ABCG1, ABCG5, ABCG8, APOA1, APOA4, APOC2, APOC3, APOE, CETP, LCAT, LIPA, LIPC, LPA, LPL, MYLIP, and NPC1
Source: ApolloGen

Familial hypercholesterolemia panel

Targeted genes: APOB, GHR, LDLR, PCSK9

Source: Centogene

FHNEXT

FHNext is a targeted panel for patients with familial hypercholesterolemia (FH). FH is typically an autosomal dominant disease causing elevated plasma LDL and an increased risk of coronary artery disease.
FHNext is a next generation sequencing (NGS) panel of three genes associated with FH: APOB, LDLR, PCSK9. This panel also includes deletion/duplication testing by MLPA for the LDLR gene.
Source: Ambry Genetics

Hypercholesterolemia, familial (NGS panel)

Targeted genes: ABCA1, ABCG5, ABCG8, APOA2, APOB, APTX, EPHX2, GHR, ITIH4, LDLR, LDLRAP1, LIPA, LRP6, PCSK9, PPP1R17

Source: CGC Genetics

Invitae Familial Hypercholesterolemia Panel

This test provides a comprehensive analysis of the genes associated with familial hypercholesterolemia (FH).
Individuals with unexplained elevated cholesterol or early cardiovascular disease may benefit from the confirmation of an FH diagnosis through genetic testing because to initiate appropriate medical therapy and enable more targeted therapy. Early and appropriate medical intervention can reduce the risk of cardiovascular events. At-risk relatives could be identified and preventive therapy could be initiated.
Source: Invitae


Hypotonia

Congenital Hypotonia Panel

The Congenital Hypotonia Panel consists of tests for five genetic conditions most often associated with isolated congenital hypotonia in newborns: spinal muscular atrophy, myotonic dystrophy (type 1), Prader-Willi syndrome, Angelman syndrome, and maternal UPD 14.
Targeted genes: DMPK, MEG3, SMN1, SNRPN
Source: Emory Genetics Laboratory


Immunology

Candidiasis, familial (NGS panel)

Targeted genes:CARD9, CLEC7A, IL17RA, IL17F, TRAF3IP2

Source: CGC Genetics

Chronic granulomatous disease panel

Targeted genes: CYBA, CYBB, NCF1, NCF2, NCF4

Source: Centogene

Common variable immune deficiency (CVID) panel

Targeted genes: ICOS, NFKB2, TNFRSF13B, TNFRSF13C

Source: Centogene

Hereditary neutropenia (NGS panel)

Targeted genes (22): GFI1, ELANE, VPS45, HAX1, JAGN1, G6PC3, WAS, CSF3R, CXCR4 , GATA2, RAC2, SBDS, AP3B1, GATA1, LAMTOR2, LYST, RAB27A, SLC37A4, TAZ, USB1, VPS13B, WIPF1

Source: CGC Genetics

Hyper-IgE Syndromes Panel

Targeted genes: DOCK8, SPINK5, STAT3, TYK2

Disorders:
Hyper-IgE Syndrome (HIES)
Jobs Syndrome

Source: GeneDx

Periodic Fever Syndromes Panel

Periodic Fever Syndromes Panel, Sequencing (7 Genes) and Deletion/Duplication, (6 Genes)
Massively parallel sequencing of all coding exons and
exon/intron junctions in 7 genes
oELANE, LPIN2, MEFV, MVK, NLRP3, PSTPIP1, and
TNFRSF1A
Deletion/duplication analysis of 6 genes by comparative
genomic hybridization (CGH) array
oLPIN2, MEFV, MVK, NLRP3, PSTPIP1, and TNFRSF1A
Source: Arup Laboratories

Periodic fever syndrome panel

Targeted genes: ELANE, LPIN2, MEFV, MVK, NLRP3, PSTPIP1, TNFRSF1A

Source: Centogene

Periodic Fever Syndromes Panel (7 genes)

Targeted genes: ELANE (ELA2), LPIN2, MEFV, MVK, NLRP3 (CIAS1), PSTPIP1, TNFRSF1A

Disorders:
Chronic Infantile Neurologic Cutaneous and Articular Syndrome
Cyclic Neutropenia
Familial Cold Autoinflammatory Syndrome
Familial Cold Urticaria syndrome
Familial Hibernian Fever
Familial Mediterranean Fever
Hyper-IgD Syndrome
Majeed Syndrome
Muckle-Wells Syndrome
Neonatal Onset Multisystem Inflammatory Disease
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne Syndrome
TNF Receptor-Associated Periodic Syndrome

Source: GeneDx

Primary Antibody Deficiency Panel

Preferred genetic test for individual with clinical phenotype of primary antibody deficiency (eg, common variable immunodeficiency). For hyper IgM syndrome genetic testing, refer to hyper IgM syndrome sequencing and deletion/duplication panel (2011154). For agammaglobulinemia genetic testing, refer to agammaglobulinemia sequencing and deletion/duplication panel (2011151).
Genes Sequenced: ADA, AICDA, ATM, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, ICOS, IGHM, IGLL1, IKBKG, LRBA, LRRC8A, MRE11A, MS4A1, NBN/NBS1, NFKB2, NFKBIA, PIK3CD, PIK3R1, PLCG2, PRKCD, PTPRC, RAG2, SH2D1A, TNFRSF13B, TNFRSF13C, UNG, VAV1, XIAP/BIRC4

Genes Deletion/Duplication: ADA, AICDA, ATM, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, ICOS, IGHM, IGLL1, MRE11A, MS4A1, NBN/NBS1, NFKB2, NFKBIA, PTPRC, RAG2, TNFRSF13B, TNFRSF13C, UNG, VAV1
Source: Arup Laboratories

Primary immunodeficiency (NGS panel)

Targeted genes (51): ADA, AIRE, AK2, ATM, BLM, BTK, CD247, CD3D, CD3E, CD40LG, CYBA, CYBB, DCLRE1C, ELANE, FAS, FOXP3, HAX1, IFNGR1, IL12RB1, IL2RG, IL7R, ITGB2, JAK3, LIG4, LYST, MBL2, MEFV, MVK, NBN, NCF2, NHEJ1, NLRP3, NOD2, PNP, PRF1, PTPRC, RAB27A, RAC2, RAG1, RAG2, SBDS, SERPING1, SH2D1A, SPINK5, STAT3, TBX1, TNFRSF13B, TNFRSF1A, UNC13B, WAS, ZAP70

Source: CGC Genetics

Severe congenital neutropenia (NGS panel)

Targeted genes: ELANE, G6PC3, GFI1, HAX1, JAGN1, VPS45A, WAS

Source: CGC Genetics

Susceptibility to atypical mycobacterium disease panel

Targeted genes: CYBB, IFNGR1, IFNGR2, IKBKG, IL12A, IL12RB2, IL12B, IL12RB1, IRF8, ISG15, STAT1, TYK2

Source: Centogene


Inherited Diseases (see also Prenatal Testing)

Ashkenazi Jewish Diseases

In the Ashkenazi Jewish population, some severe and lethal genetic conditions occur with relatively high frequency. Current testing enables the analysis of the genes associated with the following disorders in the Ashkenazi Jewish population: Cystic fibrosis, Tay-Sachs disease, Bloom syndrome, Canavan disease, Niemann-Pick A, familial dysautonomia, Torsion dystonia, mucolipidosis type IV, Fanconi anemia, Gaucher disease, factor XI deficiency, glycogen storage disease type 1a, maple syrup urine disease, non-syndromic sensorineural hearing loss, familial mediterranean fever, alpha 1-anti-trypsin deficiency, nemaline myopathy, Usher syndrome type 1F, familial hyperinsulinemia, familial hypercholesterolemia, lipoamide dehydrogenase deficiency, glycogen storage disease type III and Joubert syndrome II.
The panel tests the ABCC8, AGL, ASPA, BCKDHB, BLM, BRCA1, BRCA2, CFTR, CLRN1, CYP21A2, DLD, F11, FANCC, FKTN, GBA, GJB2, G6PC, HEXA, IKBKAP, LCA5, LDLR, LRRK2, MCOLN1, MEFV, MSH2, MSH6, NEB, PCDH15, SERPINA1, SMN1, SMPD1, TMEM216, TOR1A genes.
Source: Asper Biotech

Ashkenazi panel

Targeted genes: GBA (8 mutations), CFTR (26 mut), HEXA (7 mut), IKBKAP (2 mut), ASPA (4 mut), G6PC (2 mut) ABCC8 (2 mut), MCOLN1 (2 mut), BCKDHB (3 mut), FANCC (2 mut), DLD (2 mut), SMPD1 (4 mut), CLRN1 (1 mut), PCDH15 (1mut), BLM (1 mut), NEB (1 mut), BRCA1 (2 mut), BRCA2 (1 mut)

Source: Centogene

Inherited Disease Panel (Novogene)

The panel includes 2742 genes associated with different categories of human genetic diseases. The genes are sequenced using NGS technology to detect the mutations that cause inherited diseases. Pathogenic variants associated with 14 categories of inherited diseases, among them, cardiovascular, nervous system, blood disorder and musculoskeletal disorders are sequenced and analyzed using our bioinformatics expertise. The panel utilizes trio-sequencing, which is a more comprehensive method of identifying mutations and an approach that significantly increases the odds of a definitive result.

Source: Novogene

Ion AmpliSeq™ Inherited Disease Panel

The Ion AmpliSeq™ Inherited Disease Panel provides highly multiplexed target selection of all exons of over genes that are mutated in over 700 unique inherited diseases, according to NCBI ClinVar database (May 2012). Consulting with clinical molecular geneticists involved with inherited disease research, Ion Torrent has designed a single comprehensive inherited disease panel comprising genes implicated in some of the most common Mendelian diseases.
Thermo Fisher

Website

MULTIPLE CONGENITAL ANOMALIES

Many people with inherited syndromes are born with multiple congenital anomalies, or physical differences that make them distinctive. Determining the underlying answer to explain these is often based on recognizing a pattern of congenital anomalies, which can involve multiple organ systems. Ambry offers molecular testing for genetic syndromes that present with these types of characteristics to aid in diagnostic assessment and confirmation.
Source: Ambry Genetics

SureSelect Inherited Disease

This panel is a highly targeted design that enables comprehensive analysis of only those 2,742 genes known to cause inherited disorders. Faster time to sequencing is achieved when coupled with efficient SureSelect workflows that enable greatly reduced hybridization times.
Source: Agilent

Website

TruSight Inherited Disease

TruSight Inherited Disease was initially based on a 448 disease panel designed for preconception carrier testing for severe, recessive childhood diseases published by Dr. Kingsmore and team in Science Translational Medicine1. The original content was revised by Dr. Saunders, FACMG, at CMH (following ACMG guidelines for testing ultra-rare genetic diseases) to reflect the needs of medical geneticists with a primary focus on severe recessive diseases with childhood onset. Intellectual disability genes were added by Dr. Ropers.
Source: Illumina

Website

xGen® Inherited Diseases Panel

The xGen® Inherited Diseases Panel consists of 116,355 individually synthesized and quality controlled xGen Lockdown® Probes designed for targeted enrichment of 4503 genes and 180 SNPs associated with inherited diseases. The panel enables deeper sequencing of these genes, increasing the ability to detect disease-causing mutations. The gene list is based on the HGMD® (Human Gene Mutation Database) repository of known inherited disease-causing mutations and was refined by the Emory Genetics Laboratory at Emory University for clinical significance and relevance.

Source: IDT


Joubert and Meckel-Gruber Syndromes

Invitae Joubert and Meckel-Gruber Syndromes Panel

The Invitae Joubert and Meckel-Gruber Syndromes panel analyzes 18 genes that are associated with Joubert syndrome and related disorders (JSRD) and with Meckel-Gruber syndrome (MKS). These genes are involved in the structure of cilia, which are the hairlike structures on the surface of cells. Cilia are necessary for proper cellular motility, for the movement of material around a cell, and for chemical signaling pathways. Pathogenic variants in these genes impair the function of cilia and are described as a class of pediatric developmental disorders known as ciliopathies.
Source: Invitae

Joubert and Meckel NGS Panel

Targeted Genes: AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP290, CEP41, KIF7, MKS1, NPHP1, NPHP3, OFD1, PMPCA, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM216, TMEM237, TMEM67, TTC21B
Source: Fulgent Diagnostics

JOUBERT/MECKEL-GRUBER SYNDROME SEQUENCING PANEL

Targeted Genes
AHI1 ARL13B B9D1 B9D2 C5orf42 CC2D2A CEP290 CEP41 CSPP1 INPP5E KIF7 MKS1 NPHP1 NPHP3 OFD1 PDE6D RPGRIP1L TCTN1 TCTN2 TCTN3 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TTC21B

Disorders
Joubert syndrome Meckel-Gruber syndrome

Source: UCGS

Joubert syndrome

Targeted genes:AHI1, ARL13B, C5orf42, CC2D2A, CEP290, CEP41, CSPP1, EXOC8, INPP5E, KIF7, NPHP1, OFD1, PDE6D, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423

Source: CGC Genetics

Joubert Syndrome NGS Panel

Targeted Genes: AHI1, ARL13B, B9D1, CC2D2A, CEP290, CEP41, KIF7, MKS1, NPHP1, OFD1, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM216, TMEM237, TMEM67, TTC21B
Source: Fulgent Diagnostics

Joubert syndrome panel

Targeted genes: AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP290, CEP41, CSPP1, EXOC8, INPP5E, KIF7, MKS1, NPHP1, NPHP3, OFD1, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423

Source: Centogene

Meckel syndrome

Targeted genes: B9D1, B9D2, CC2D2A, CEP290, MKS1, NPHP3, PGRIP1L, TCTN2, TMEM216, TMEM67, TMEM231

Source: CGC Genetics

Meckel syndrome panel

Targeted genes: MKS1, TMEM216, TMEM67, CEP290, RPGRIP1L, CC2D2A, NPHP3, TCTN2, B9D1, B9D2, TMEM231

Source: Centogene


Kidney and Renal Testing

Alport Syndrome Gene Set

Targeted genes: COL4A3, COL4A4, COL4A5
Source: WUSTL

aHUS Gene Set

Targeted genes: C3, CD46 (MCP), CFB, CFH, CFI, DGKE, THBD; CFHR3-CFHR1 deletion by MLPA
Source: WUSTL

Atypical hemolytic uremic syndrome

Targeted genes: ADAMTS13, C3, CD46, CFB, CFH, CFHR1, CFHR3, CFHR4, CFHR5, CFI, DGKE, LMNA, MMACHC, THBD

Source: CGC Genetics

Atypical hemolytic uremic syndrome panel

Targeted genes: ADAMTS13, C3, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, DGKE, PIGA, THBD

Source: Centogene

Bartter Syndrome panel

Targeted genes: ATP6V1B1, BSND, CA2, CASR, CLCNKA, CLCNKB, CLDN16, CLDN19, FXYD2, HSD11B2, KCNJ1, KCNJ10, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, SLC12A1, SLC12A2, SLC12A3, SLC4A1, SLC4A4, WNK1, WNK4

Source: Centogene

Focal glomerulonephrosis

Targeted genes: ACTN4, ANLN , CD2AP, CRB2, INF2, MYO1E, PAX2, TRPC6, WT1, NPHS1, NPHS2

Source: CGC Genetics

Focal Glomerulonephrosis panel

Targeted genes: ACTN4, CD2AP, INF2, NPHS1, NPHS2, TRPC6, WT1

Source: Centogene

Hypomagnesemia panel

Targeted genes: CLDN16, CLDN19, CNNM2, EGF, FXYD2, KCNA1, SLC12A3, TRPM6

Source: Centogene

Invitae Nephronophthisis Panel

The Invitae Nephronophthisis Panel analyzes 12 genes that are associated with nephronophthisis (NPHP). These genes are involved in the structure and function of the ciliary apparatus. Cilia are necessary for proper cellular motility, for the movement of material around a cell, and for chemical signaling pathways. Pathogenic variants in any of these genes result in ciliary dysfunction and are likely to disrupt signaling pathways in the kidneys, ultimately leading to established renal failure.
Source: Invitae

Nephronophthisis (NGS panel)

Targeted genes (19): ANKS6, CEP164, CEP290, CEP83, DCDC2, GLIS2, INVS, IQCB1, NEK8, NPHP1, NPHP3, NPHP4, RPGRIP1L, SDCCAG8, TMEM67, TTC21B, WDR19, XPNPEP3, ZNF423

Source: CGC Genetics

Nephronophthisis NGS Panel

Targeted Genes: CEP290, GLIS2, INVS, IQCB1, NEK8, NPHP1, NPHP3, NPHP4, RPGRIP1L, SDCCAG8, TMEM67, TTC21B
Source: Fulgent Diagnostics

Nephronophthisis panel

Targeted genes: NPHP1, INVS, NPHP3, NPHP4, ANKS6, IQCB1, CEP164, CEP290, GLIS2, RPGRIP1L, NEK8, SDCCAG8, ZNF423

Source: Centogene

NEPHRONOPHTHISIS SEQUENCING PANEL

Targeted Genes
CEP290 GLIS2 INVS IQCB1 NEK8 NPHP1 NPHP3 NPHP4 RPGRIP1L SDCCAG8 TMEM67 TTC21B XPNPEP3

Source: UCGS

Nephrotic syndrome (NGS panel)

Targeted genes: ACTN4, ADCK4, ARHGDIA, DGKE, EMP2, LAMB2, NPHS1, NPHS2, PLCE1, PTPRO, WT1

Source: CGC Genetics

Nephrotic Syndrome Gene Set

Targeted genes: ACTN4, APOL1, CD2AP, INF2, LAMB2, MYH9, NPHS1, NPHS2, PLCE1, TRPC6, WT1
Source: WUSTL

Nephrotic syndrome panel

Targeted genes: ARHGDIA, DGKE, LAMB2, NPHS1, NPHS2, PLCE1, WT1

Source: Centogene

Polycystic kidney disease

Targeted genes: PKD1, PKD2, PKHD1

Source: CGC Genetics

Polycystic kidney panel

Targeted genes: BICC1, PKD1, PKD2, NOTCH2, PKHD1

Source: Centogene

Pseudohypoaldosteronism panel

Targeted genes: CUL3, HSD11B2, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4

Source: Centogene


Laterality Disorders

Invitae Laterality Disorders Panel

The Invitae Laterality Disorders Panel analyzes 35 genes that are associated with laterality defects, including situs inversus (a complete mirror-image arrangement of the internal organs) and heterotaxy spectrum (abnormal arrangement of one or more visceral organs and complex cardiovascular malformations). These genes were selected based on the available evidence to date to provide a comprehensive test for the molecular diagnosis of a laterality disorder.
Source: Invitae


Liver

Cholestasis NGS Panel

Targeted Genes: ABCB11, ABCB4, AKR1D1, ATP8B1, JAG1, SERPINA1, SLC25A13
Source: Fulgent Diagnostics

Congenital Hepatic Fibrosis NGS Panel

Targeted Genes: AHI1, ARL13B, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CC2D2A, CEP290, EVC, EVC2, GLIS2, IFT80, INVS, IQCB1, MKKS, MKS1, NEK8, NPHP1, NPHP3, NPHP4, OFD1, PKD1, PKD2, PKHD1, RPGRIP1L, TMEM67, TRIM32, TTC21B, TTC8
Source: Fulgent Diagnostics

Intrahepatic cholestasis panel

Targeted genes: ABCB11, ABCB4, ATP8B1, UGT1A1

Source: Centogene

Progressive familial intrahepatic cholestasis (NGS panel)

Targeted genes: ATP8B1, ABCB11, ABCB4, TJP2

Source: CGC Genetics


Lymphocytes

B-negative SCID panel

Targeted genes: ADA, AK2, DCLRE1C, LIG4, NHEJ1, RAC2, RAG1, RAG2

Source: Centogene

Severe Combined Immunodeficiency (SCID) is caused by dysfunction or reduced number of lymphocytes. 

B-positive SCID panel

Targeted genes: CD3D, CD3E, CD247, FOXN1, IL2RG, IL7R, JAK3, ORAI1, PNP, PTPRC, RMRP, STAT5B, STIM1, TBX1, ZAP70

Source: Centogene

Severe Combined Immunodeficiency (SCID) is caused by dysfunction or reduced number of lymphocytes.

Comprehensive SCID panel

Targeted genes: ADA, AK2, CD3D, CD3E, CD247, DCLRE1C, FOXN1, IL2RG, IL7R, JAK3, LIG4, NHEJ1, ORAI1, PNP, PTPRC, RAC2, RAG1, RAG2, RMRP, STAT5B, STIM1, TBX1, ZAP70

Source: Centogene

Comprehensive SCID Panel

Targeted genes: ADA, AK2, CD3D, CD3E, CD3Z, DCLRE1C (ARTEMIS), IL2RG, IL7R, JAK3, LIG4, NHEJ1, PNP, PTPRC, RAC2, RAG1, RAG2, RMRP, ZAP70

Disorders:
LIG4 Syndrome
Neutrophil Immunodeficiency Syndrome
Purine Nucleoside Phosphorylase Deficiency
Reticular Dysgenesis
Severe Combined Immune Deficiency (SCID)

Source: GeneDx

Familial Hemophagocytic Lymphohistiocytosis NGS Panel

Targeted Genes: PRF1, RAB27A, STX11, STXBP2, UNC13D
Source: Fulgent Diagnostics

Hemophagocytic lymphohistiocytosis and reticuloendotheliosis with eosinophilia, familial

Targeted genes: PRF1, UNC13D, STX11, STXBP2, RAG1, RAG2, DCLRE1C

Source: CGC Genetics

Hemophagocytic Lymphohistiocytosis panel

Targeted genes: PRF1, UNC13D, STX11, STXBP2

Source: Centogene

LymphoTrack® Dx Assay

Invivoscribe’s LymphoTrack® Dx Assays are used to identify and track clonal lymphocyte populations. These CE-IVD assays, developed for use with the leading Next-Generation Sequencing (NGS) platforms, include optimized multiplex PCR master mixes with primers incorporating platform specific adapters and specimen tracking sequencing identification tags for a one-step PCR workflow. A comprehensive bioinformatics software package is provided free of charge with purchase; enabling you to identify the DNA sequence, clonal prevalence, V-J family identity for each gene rearrangements, and with the IGH assays, the extent of IGHVsomatic hypermutation (SHM). With this state-of-the-art assay, the gene rearrangement status of several million lymphocytes in blood, bone marrow, or tissue samples can be both identified and characterized.
Source: Invivoscribe

Website


Lysosome

lysoSEEK™ panel

Lysosomal storage disorders are part of the differential diagnosis of several, diverse perinatal and childhood phenotypes, which are extremely variable in both onset and clinical severity. Prompt diagnosis (within the first year), including genetic testing, may enable early treatment (e.g. enzyme replacement therapy), possibly preventing irreversible clinical consequences. Courtagen’s lysoSEEK™ panel provides extensive genetic analysis and clinical interpretation of data generated by the complete sequencing of 94 genes associated with close to 60 metabolic disorders. The test seeks out enzymatic deficiencies in the lysosomes, and looks at additional genes useful for differential diagnoses.
Source: Courtagen

Website

Lysosomal Disorders NGS Panel

Targeted Genes: (106) ABCC8, ACY1, ADAMTSL2, ADSL, AGA, ALDH4A1, ALDH5A1, ALDH7A1, AMT, ANTXR2, ARG1, ARSA, ARSB, ASAH1, ASPA, ATP13A2, BTD, CLN3, CLN5, CLN6, CLN8, COL11A2, COL2A1, CTNS, CTSA, CTSC, CTSD, CTSK, DHCR7, DNAJC5, DPYD, DYM, ETFA, ETFB, ETFDH, FH, FOLR1, FUCA1, GAA, GALC, GALNS, GAMT, GBA, GCDH, GCSH, GLA, GLB1, GLDC, GM2A, GNE, GNPTAB, GNPTG, GNS, GPC3, GUSB, HEXA, HEXB, HGSNAT, HPD, HRAS, HYAL1, IDS, IDUA, L2HGDH, LAMA2, LAMP2, LIPA, LMBRD1, MAN2B1, MANBA, MCOLN1, MFSD8, MOCS1, MOCS2, NAGA, NAGLU, NEU1, NPC1, NPC2, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26, PEX3, PEX5, PEX6, PGK1, PHYH, PPT1, PRODH, PSAP, QDPR, RAI1, SGSH, SLC17A5, SLC25A15, SLC46A1, SMPD1, SUMF1, SUOX, TCF4, TPP1
Source: Fulgent Diagnostics

Lysosomal storage disease panel

Targeted genes: ARSA, FUCA1, GALC, GBA, GLB1, GNPTAB, GUSB, HEXA, HEXB, MAN2B1, MANBA, NAGA, SMPD1

Source: Centogene

Mucopolysaccharidosis NGS Panel

Targeted Genes: ARSB, GALNS, GNS, GUSB, HGSNAT, IDS, IDUA, LDB3, MYOT, NAGLU, SGSH
Source: Fulgent Diagnostics

Mucopolysaccharidosis panel

Targeted genes: ARSB, GALNS, GLB1, GNPTAB, GNPTG, GNS, GUSB, HGSNAT, IDS, IDUA, NAGLU, SGSH

Source: Centogene

Sanfilippo/MPSIII Sequencing Panel

Targeted genes: GNS, HGSNAT, NAGLU, SGSH

Disorders:
Mucopolysaccharidosis IIIA, IIIB, IIIC and IIID
Sanfilippo Syndrome A, B, C and D

Source: GeneDx


Marfan Syndrome

Marfan and Loeys-Dietz syndromes and aortic aneurysm (NGS panel)

Targeted genes: ACTA2, FBN1, FBN2, MYH11, MYLK, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2

Source: CGC Genetics

MARFAN MASTR

The MARFAN MASTR amplifies the coding regions of the FBN1 gene, including SNVs and CNVs, implicated in the Marfan syndrome. The assay provides 86 amplicons (290-420 bp) in 4 multiplex PCR reactions. Marfan syndrome (MFS) is a disorder of the connective tissue, affecting most organs and tissues, especially the skeleton, lungs, eyes, heart, and the aorta. People with MFS tend to be unusually tall, with long limbs and long thin fingers. Mutations in the FBN1 gene cause MFS by reducing the amount of functional fibrillin-1 that is required to form microfibrils, thus releasing excess growth factors and decreasing tissues elasticity, leading to overgrowth and instability of tissues.
Source: Mulitplicom

Website

Marfan Syndrome and Thoracic Aortic Aneurysm and Dissection NGS Panel

Targeted Genes: ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MED12, MYH11, MYLK, NOTCH1, PLOD1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2
Source: Fulgent Diagnostics

Marfan/TAAD Sequencing & Del/Dup Panel

Targeted genes: ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MED12, MYH11, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2

Disorder:
Thoracic Aortic Aneurysm and Dissection (TAAD) and Related Disorders

Source: GeneDx


Mediterranean Fever (MEFV) Gene

FMF MASTR Dx

The FMF MASTR Dx is a molecular diagnostic assay for the identification of all mutations in the Mediterranean Fever (MEFV) gene underlying FMF. Multiplicom’s FMF MASTR Dx assay is provided as a ready-to-use kit that offers robust performance with minimum hands-on time. All reagents necessary to enable multiplex amplification of 23 amplicons (300-400 bp) in two PCR reactions are included, for complete coverage of all coding sequences. The assay is compatible with all current Massively Parallel Sequencing (MPS) systems, providing the flexibility to choose your preferred method.
Source: Multiplicom

Website


Meier-Gorlin Syndrome

Meier-Gorlin Syndrome NGS Panel

Targeted Genes: CDC6, CDT1, ORC1, ORC4, ORC6
Source: Fulgent Diagnostics


Mental Health (see also Neurogenetics) 

Angelman Syndrome and Differential Diagnoses

Multi Gene Panel (20 Genes)
Targeted genes: ARX ATRX CDKL5 CNTNAP2 DYRK1A EHMT1 FOXG1 HERC2 KDM5C KIAA2022 MBD5 MECP2 MEF2C NRXN1 PCDH19 SLC9A6 SYNGAP1 TCF4 UBE3A ZEB2
Source: Medical Genetics Center

Coffin-Siris and Nicolaides-Baraitser Syndrome (CSS, NCBRS)

Multi Gene Panel (7 Genes)
Targeted genes: ARID1A ARID1B PHF6 SMARCA2 SMARCA4 SMARCB1 SMARCE1
Source: Medical Genetics Center

Coffin-Siris syndrome (NGS panel)

Targeted genes: ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1

Source: CGC Genetics

Coffin-Siris syndrome panel

Targeted genes: ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1

Source: Centogene

COFFIN-SIRIS SYNDROME SEQUENCING PANEL

Targeted Genes
ADNP ANKRD11 ARID1A ARID1B PHF6 SMARCA2 SMARCA4 SMARCB1 SMARCE1 SOX11 TBC1D24

Source: UCGS

Cohesinopathies (Cornelia de Lange Syndrome)

Multi Gene Panel (5 Genes)
Targeted genes: HDAC8 NIPBL RAD21 SMC1A SMC3
Source: Medical Genetics Center

Congenital Disorders of Glycosylation (CDG)

Multi Gene Panel (38 Genes)
Targeted genes: ALG1 ALG11 ALG12 ALG13 ALG3 ALG6 ALG8 ALG9 B4GALT1 COG1 COG4 COG5 COG6 COG7 COG8 DDOST DHDDS DOLK DPM1 DPM3 GMPPA MAN1B1 MGAT2 MOGS MPDU1 MPI PGM1 PMM2 RFT1 SLC35A1 SLC35A2 SLC35C1 SRD5A3 SSR4 STT3A STT3B TMEM165 TUSC3
Source: Medical Genetics Center

Congenital Disorders of Glycosylation NGS Panel

Targeted Genes: ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ATP6V0A2, B3GLCT, B4GALT1, COG1, COG4, COG5, COG6, COG7, COG8, DDOST, DHDDS, DOLK, DPAGT1, DPM1, DPM3, GNE, MAGT1, MGAT2, MOGS, MPDU1, MPI, PMM2, RFT1, RPN2, SEC23B, SLC35A1, SLC35C1, SRD5A3, TUSC3
Source: Fulgent Diagnostics

Glycosylation disorder panel

Targeted genes: PMM2, MPI, ALG6, ALG3, ALG12, ALG8, DPAGT1, ALG1, RFT1, ALG11, SRD5A3, TUSC3, MGAT2, TMEM165

Source: Centogene

Mental Health DNA InsightTM

Mental Health DNA InsightTM analyzes a patient’s DNA to identify genetic variants that affect the metabolism and efficacy of psychiatric medications. Genetic research suggests that categorizing individuals based on genotypes will make the pharmacologic treatment of psychiatric illnesses more predictable and effective. Mental Health DNA Insight can help a physician predict a patient’s response to more than 30 common antidepressants, mood stabilizers and antipsychotic medications. The report provides outcomes in a clear color-coded chart.
Source: Pathway

Website

Mental retardation, X-linked panel

Targeted genes: ABCD1, ACSL4, AFF2, AGTR2, AP1S2, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCOR, BRWD3, CASK, CDKL5, CUL4B, DCX, DKC1, DLG3, ELK1, FANCB, FGD1, FLNA, FMR1, FTSJ1, GDI1, GK, GPC3, GRIA3, HCCS, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IL1RAPL1, KIAA2022, KDM5C, KLF8, L1CAM, LAMP2, MAGT1, MAOA, MBTPS2, MECP2, MED12, MID1, MTM1, NDP, NDUFA1, NHS, NLGN3, NLGN4X, NSDHL, NXF5, OCRL, OFD1, OPHN1, OTC, PAK3, PCDH19, PDHA1, PGK1, PHF6, PHF8, PLP1, PORCN, PQBP1, PRPS1, RAB39B, RPL10, RPS6KA3, SHROOM4, SLC16A2, SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SRPX2, SYN1, SYP, TIMM8A, TSPAN7, UBE2A, UPF3B, ZCCHC12, ZDHHC9, ZDHHC15, ZNF41, ZNF81, ZNF674, ZNF711

Source: Centogene

Rasopathies

Multi Gene Panel (15 Genes)
Targeted genes: BRAF CBL HRAS KRAS MAP2K1 MAP2K2 NF1 NRAS PTPN11 RAF1 RASA2 RRAS SHOC2 SOS1 SPRED1
Source: Medical Genetics Center

Rett/Angelman Syndrome Panel

Targeted genes: CDKL5, CNTNAP2, FOXG1, MBD5, MECP2, MEF2C, NRXN1, SLC9A6, TCF4, UBE3A, WDR45, ZEB2

Disorders:
Angelman syndrome (AS)
Angelman-like syndrome, X-linked syndromic mental retardation (Christianson type)
Atypical Rett Syndrome
Mowat-Wilson Syndrome
Pitt Hopkins Syndrome
Rett syndrome

Source: GeneDx

RETT/ANGELMAN SYNDROME SEQUENCING PANEL

Targeted Genes
ARX ATRX CDKL5 CNTNAP2 DYRK1A EHMT1 FOLR1 FOXG1 MBD5 MECP2 MEF2C NRXN1 OPHN1 PCDH19 PNKP SLC2A1 SLC9A6 TCF4 TRAPPC9 UBE3A ZEB2

Disorders
Angelman syndrome
Atypical Rett syndrome
Rett syndrome

Source: UCGS

Syndromic Disorders

Multi Gene Panel (176 Genes)
Targeted genes: ABCC6 ACSL4 AFF2 AGTR2 AIFM1 AKT1 AKT3 AP1S2 ARHGEF6 ARHGEF9 ARID1A ARID1B ARX ASPA ATP6AP2 ATP7A ATRX BCOR BRAF BRWD3 CASK CBL CCND2 CDKL5 CDKN1C CHD8 CLCN4 CNTNAP2 CUL4B DCX DIS3L2 DKC1 DLG3 DMD DNMT3A DYRK1A EHMT1 EIF2B5 EIF2S3 EMD EZH2 FANCB FGD1 FHL1 FLNA FMR1 FOXG1 FTSJ1 GDI1 GFAP GK GLI3 GNAQ GPC3 GPSM2 GRIA3 HCCS HCFC1 HDAC8 HEPACAM HERC2 HPRT1 HRAS HSD17B10 HUWE1 IDS IGBP1 IKBKG IL1RAPL1 IQSEC2 KDM5C KDM6A KIAA0196 KIAA2022 KIF7 KLF8 KPTN KRAS L1CAM LAMP2 LAS1L MAGT1 MAOA MAP2K1 MAP2K2 MBD5 MBTPS2 MECP2 MED12 MEF2C MID1 MLC1 MTM1 NAA10 NDP NDUFA1 NF1 NFIX NHS NIPBL NLGN3 NLGN4X NRAS NRXN1 NSD1 NSDHL NXF5 OCRL OFD1 OPHN1 OTC PAK3 PCDH19 PDHA1 PGK1 PHF6 PHF8 PIK3CA PIK3R2 PLP1 PORCN PQBP1 PRPS1 PTCH1 PTCHD1 PTEN PTPN11 RAB39B RAB40AL RAD21 RAF1 RASA2 RBM10 RNF135 RPL10 RPS6KA3 RRAS SETD2 SHOC2 SHROOM4 SLC16A2 SLC6A8 SLC9A6 SMARCA2 SMARCA4 SMARCB1 SMARCE1 SMC1A SMC3 SMS SOS1 SOX3 SPRED1 SRPX2 SYN1 SYNGAP1 SYP TBC1D7 TCF4 THOC2 TIMM8A TSC1 TSC2 TSPAN7 UBE2A UBE3A UPF3B WDR45 ZDHHC15 ZDHHC9 ZEB2 ZMYM3 ZNF41 ZNF674 ZNF711 ZNF81
Source: Medical Genetics Center

X-Linked Mental Retardation

Multi Gene Panel (109 Genes)
Targeted genes: ACSL4 AFF2 AGTR2 AIFM1 AP1S2 ARHGEF6 ARHGEF9 ARX ATP6AP2 ATP7A ATRX BCOR BRWD3 CASK CDKL5 CLCN4 CUL4B DCX DKC1 DLG3 DMD EIF2S3 EMD FANCB FGD1 FHL1 FLNA FMR1 FTSJ1 GDI1 GK GPC3 GRIA3 HCCS HCFC1 HDAC8 HPRT1 HSD17B10 HUWE1 IDS IGBP1 IKBKG IL1RAPL1 IQSEC2 KDM5C KDM6A KIAA2022 KLF8 L1CAM LAMP2 LAS1L MAGT1 MAOA MBTPS2 MECP2 MED12 MID1 MTM1 NAA10 NDP NDUFA1 NHS NLGN3 NLGN4X NSDHL NXF5 OCRL OFD1 OPHN1 OTC PAK3 PCDH19 PDHA1 PGK1 PHF6 PHF8 PLP1 PORCN PQBP1 PRPS1 PTCHD1 RAB39B RAB40AL RBM10 RPL10 RPS6KA3 SHROOM4 SLC16A2 SLC6A8 SLC9A6 SMC1A SMS SOX3 SRPX2 SYN1 SYP THOC2 TIMM8A TSPAN7 UBE2A UPF3B WDR45 ZDHHC15 ZDHHC9 ZMYM3 ZNF41 ZNF674 ZNF711 ZNF81
Source: Medical Genetics Center


Metabolism

Carnitine deficiency (NGS panel)

Targeted genes: ACADM, CPT1A, CPT1B, CPT2, SLC22A5, SLC25A20

Source: CGC Genetics

Cobalamin Homocysteine Methionine NGS Panel

Targeted Genes: ADK, AHCY, ALDH6A1, CBS, CD320, CTH, FOLH1, GNMT, LMBRD1, MAT1A, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTHFR, MTR, MTRR, MUT, TCN2
Source: Fulgent Diagnostics

COMPREHENSIVE CONGENITAL HYPERINSULINISM PANEL

Targeted Genes
ABCC8 GCK GLUD1 HADH HNF1A HNF4A INSR KCNJ11 SLC16A1 UCP2

Disorders
Congenital Hyperinsulinism
Familial Hyperinsulinism
Hyperinsulinism

Source: UCGS

COMPREHENSIVE LIPODYSTROPHY SEQUENCING PANEL

Targeted Genes
AGPAT2 AKT2 BSCL2 CAV1 CIDEC FBN1 KCNJ6 LIPE LMNA LMNB2 PIK3R1 PLINI POLD1 PPARG PSMB8 PTRF TBC1D4 ZMPSTE24

Disorders
Congenital generalized lipodystrophy, Partial lipodystrophy, Lipodystrophy

Source: UCGS

CONGENITAL GENERALIZED LIPODYSTROPHY SEQUENCING PANEL

Targeted Genes
AGPAT2 BSCL2 CAV1 FBN1 KCNJ6 PTRF

Disorders
Congenital generalized lipodystrophy, Lipodystrophy

Source: UCGS

Congenital disorders of glycosylation

Targeted genes: ALG1, ALG11, ALG2, ALG12, ALG3, ALG13, ALG6, ALG8, ALG9, B4GALT1, COG1, COG4, COG5, COG6, COG7, COG8, DDOST, DOLK, DPAGT1, DPM1, DPM2, DPM3, MAN1B1, MGAT2, MOGS, MPDU1, MPI, PGM1, PMM2, RFT1, SLC35A1, SLC35A2, SLC35C1, SRD5A3, TMEM165, NGLY1, STT3B, STT3A, SSR4

Source: CGC Genetics

Fatty Acid Oxidation Deficiency NGS Panel

Targeted Genes: ACAD9, ACADL, ACADM, ACADS, ACADVL, CPT1A, CPT1B, CPT2, ETFA, ETFB, ETFDH, GLUD1, HADH, HADHA, HADHB, HMGCL, HMGCS2, HSD17B10, LPIN1, SLC22A5, SLC25A20, TAZ
Source: Fulgent Diagnostics

Fatty acid oxidation disorder panel

Targeted genes: ACAD9, ACADM, ACADS, ACADVL, CPT1A, CPT2, ETFA, ETFB, ETFDH, GLUD1, HADH, HADHA, HADHB, HMGCL, HSD17B10, PPARG, SLC22A5, SLC25A20, TAZ

Source: Centogene

Fatty Acid Oxidation Sequencing Panel

Targeted genes: ACADM, ACADS, ACADVL, CPT1A, CPT2, ETFA, ETFB, ETFDH, GLUD1, HADHA, HADHB, HMGCL, HMGCS2, SLC22A5, SLC25A20

Source: GeneDx

Histological Lipid Storage Myopathy

Multi Gene Panel (8 Genes)
Targeted genes: ABHD5 ACADVL CPT2 ETFA ETFB ETFDH PNPLA2 SLC22A5
Source: Medical Genetics Center

Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel

Tageted genes: ACADM, ACADS, ACADVL, ARG1, ASL, ASS1, BCKDHA, BCKDHB, CPS1, CPT1A, CPT2, DBT, DLD, ETFA, ETFB, ETFDH, GLUD1, HADHA, HADHB, HCFC1, HLCS, HMGCL, HMGCS2, IVD, MCCC1, MCCC2, MMAA, MMAB, MMACHC, MMADHC (C2ORF25) , MUT, NAGS, OTC, PC, PCCA, PCCB, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC7A7, SUCLA2, SUCLG1, TMEM70

Disorders:
Hyperammonemia Related Disorders
Urea Cycle Disorders

Source: GeneDx

Hyperinsulinemic hypoglycemia panel

Targeted genes: ABCC8, GCK, GLUD1, HADH, INSR, KCNJ11, SLC16A1

Source: Centogene

Hyperinsulinism NGS Panel

Targeted Genes: ABCC8, GCK, GLUD1, HADH, HNF4A, INS, INSR, KCNJ11, PDX1, SLC16A1, UCP2
Source: Fulgent Diagnostics

Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

Targeted genes: ACAD9, ADCK3 (CABC1; COQ8), AGK, AGL, AIFM1, ALDOB, ATP5E, ATPAF2 (ATP12), B4GALT1, BCKDHA, BCKDHB, BCS1L, BOLA3, C10ORF2, C12ORF65, CA5A, CARS2, COG4, COG8, COQ2, COQ4, COQ9, COX10, COX14 (C12ORF62), COX15, COX6B1, CYC1, DARS2, DBT, DGUOK, DLAT, DLD, DNM1L, EARS2, ECHS1, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FBP1, FBXL4, FDX1L, FH, FOXRED1, G6PC, GFER, GFM1 (EFG1), GTPBP3, GYG2, GYS2, HADHA, HADHB, HIBCH, HLCS, HMGCS2, HSD17B10, HSPD1, IBA57, ISCU, LARS, LARS2, LDHA, LIAS, LIPT1, LRPPRC, LYRM4, LYRM7, MARS, MFF, MLYCD, MPC1 (BRP44L), MPV17, MRPL12, MRPL44, MRPS16, MRPS22, MRPS7, MTFMT, MTO1, NADK2, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA9, NDUFAF1, NDUFAF3 (C3ORF60), NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NFS1, NFU1, PARS2, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PFKM, PHKG2, PNPT1, POLG, POLG2, PUS1, RARS2, RMND1, RRM2B, SARS2, SCO2, SDHAF1, SERAC1, SFXN4, SLC25A13, SLC25A19, SLC25A3 (PHC), SLC25A4, SLC2A2, SLC35A2, SLC37A4, SLC7A7, SUCLA2, SUCLG1, SURF1, TARS2, TAZ, TK2, TMEM70, TPK1, TRMU, TRNT1, TSFM, TTC19, TUFM, TYMP, UQCC2 , UQCC3, UQCRB, UQCRC2, UQCRQ, YARS2

Disorders:
2,4-Dienoyl-CoA Reductase Deficiency (DECRD)
3-Hydroxyisobutryl-CoA Hydrolase Deficiency (HIBCH)
Congenital Disorder of Glycosylation
Congenital Sideroblastic Anemia with B-cell Immunodeficiency, Periodic fevers, and Developmental delay (SIFD)
Fanconi-Bickel Syndrome
Glycogen Storage Disease IIIa; Glycogen Storage Disease IIIb
Glycogen Storage Disease IXc (GSD9C)
Glycogen Storage Disease VII (GSD7)
Glycogen Storage Disease XI (GSD11)
Hereditary Fructose Intolerance
Hyperammonemia Due to Carbonic Anhydrase VA Deficiency (CA5AD)
Lipoyltransferase 1 Deficiency (LIPT1)
Mitochondrial Short-Chain Enoyl-CoA Hydratase-1 Deficiency (ECHS1D)
Multiple Mitochondrial Dysfunctions Syndrome
Perrault Syndrome 4 (PRLTS4)
Spastic Paraplegia 74 (SPG74)

Source: GeneDx

Lactic Acidosis-Pyruvate NGS Panel

Targeted Genes: (69) ACAD9, ADCK3, APTX, ATP5E, ATPAF2, BCS1L, COQ2, COQ9, COX10, COX15, COX6B1, DARS2, DGUOK, DLAT, DLD, DNM1L, ETFA, ETFB, ETFDH, ETHE1, FBP1, FH, FOXRED1, G6PC, GFM1, GYS2, ISCU, LRPPRC, MRPS16, MRPS22, NDUFA11, NDUFAF1, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, POLG, PUS1, RRM2B, SCO2, SLC25A3, SLC25A4, SUCLA2, SUCLG1, SURF1, TAZ, TK2, TMEM70, TRMU, TSFM, TUFM, TYMP, UQCRB, YARS2
Source:Fulgent Diagnsotics

Lipodystrophy NGS Panel

Targeted Genes: AGPAT2, AKT2, BSCL2, CAV1, CIDEC, LMNA, PPARG, PTRF, TBC1D4, ZMPSTE24
Source: Fulgent Diagnostics

Maple Syrup Urine Disease NGS Panel

Targeted Genes: BCKDHA, BCKDHB, DBT
Source: Fulgent Diagnostics

Maple syrup urine disease panel

Targeted genes: BCKDHA, BCKDHB, DBT, DLD

Source: Centogene

Metabolic Disorders Gene Set

For renal disease testing
Targeted genes: AGT, CTNS, GRHPR, MMACHC
Source: WUSTL

Metabolic Myopathy / Fatty Acid Oxidation Disorder / Myalgia / Rhabdomyolysis

Multi Gene Panel (28 Genes)
Targeted genes: ABHD5 ACADM ACADS ACADVL AGL AMACR AMPD1 ANO5 CPT2 DMD DYSF ETFA ETFB ETFDH FDX1L FKRP GAA HADH HADHA HADHB ISCU LPIN1 PFKM PGK1 PNPLA2 PYGM RYR1 SLC22A5
Source: Medical Genetics Center

Metabolic Storage Disorders Panel

Metabolic Storage Disorders Panel Sequencing, 51 Genes
Source: Arup Laboratories

Methylmalonic Acid Metabolism NGS Panel

Targeted Genes: ACSF3, ALDH6A1, CD320, LMBRD1, MCEE, MMAA, MMAB, MMACHC, MMADHC, MUT, SUCLA2, SUCLG1, TCN2
Source: Fulgent Diagnostics

Methylmalonic acidemia panel (advanced)

Targeted genes: ABCD4, ACSF3, CD320, LMBRD1, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, SUCLA2, SUCLG1

Source: Centogene

Centogene also offers an Methylmalonic acidemia panel basic panel. 

Methylmalonic aciduria (NGS panel)

Targeted genes (15): ABCD4, ACSF3, CD320, LMBRD1, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, SUCLA2, SUCLG1

Source: : CGC Genetics

Methylmalonic Aciduria and Homocystinuria NGS Panel

Targeted Genes: LMBRD1, MMACHC, MMADHC
Source:Fulgent Diagnostics

Methylglutaconic Aciduria Nuclear Gene Panel

Targeted genes: AGK, ATP5E, ATPAF2 (ATP12), AUH, CLPB, DNAJC19, HMGCL, OPA3, POLG, SERAC1, SUCLA2, TAZ, TMEM70

Disorder:
3-Methylglutaconic Aciduria Type VII (MGCA7)

Source: GeneDx

MSUD Sequencing panel

Targeted genes: BCKDHA, BCKDHB, DBT

Disorder:
Maple Syrup Urine Disease (MSUD)

Source: GeneDx

Pyruvate Dehydrogenase Deficiency

Multi Gene Panel (6 Genes)
Targeted genes: DLAT DLD PC PDHA1 PDHB PDHX
Source: Medical Genetics Center

RBC Enzymopathies

Red blood cell (RBC) enzymopathies

Targeted genes: AK1, ALDOA, G6PD, GCLC, GPI, GPX1, GSR, GSS, HK1, NT5C3A, PFKM, PGK1, PKLR, TPI1

Source: CGC Genetics

Refsum disease panel

Targeted genes: PEX1, PEX2, PEX26, PEX7, PHYH

Source: Centogene

Urea cycle disorder panel

Targeted genes: ARG1, ASL, ASS1, CPS1, NAGS, OTC

Source: Centogene

Zellweger syndrome panel

Targeted genes: PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26

Source: Centogene


Mitochondrial Defects

Combined Mito Genome Plus Mito Nuclear Gene Panel

The Combined Mito Genome Plus Mito Nuclear Gene Panel includes sequencing and deletion testing of the mitochondrial genome and sequence analysis and exon-level deletion/duplication testing of 319 nuclear genes important for normal mitochondrial function.


Targeted genes: AARS, AARS2, ABCB11, ABCB4, ABCB7, ABCD4, ACAD9, ACADM, ACADVL, ACO2, ACSF3, ADCK3 (CABC1; COQ8), ADCK4, AFG3L2, AGK, AGL, AIFM1, ALAS2, ALDOA, ALDOB, ALG1, ALG11, ALG13, ALG2, ALG3, ALG6, ALG9, AMACR, APOPT1, APTX, ARG1, ASL, ASS1, ATP5A1, ATP5E, ATP7B, ATP8B1, ATPAF2 (ATP12), AUH, B4GALT1, BCKDHA, BCKDHB, BCS1L, BOLA3, C10ORF2, C12ORF65, C19orf12, CA5A, CARS2, CHKB, CISD2, CLPB, COA5 (C2ORF64), COA6, COASY, COG4, COG5, COG6, COG7, COG8, COQ2, COQ4, COQ6, COQ9, COX10, COX14 (C12ORF62), COX15, COX20 (FAM36A), COX4I2, COX6A1, COX6B1, COX7B, CPS1, CPT1A, CPT2, CYC1, DARS, DARS2, DBT, DDHD1, DDHD2, DDOST, DGUOK, DLAT, DLD, DMGDH, DNA2, DNAJC19, DNM1L, DNM2 , DOLK, DPAGT1, DPM1, DPM3, EARS2, ECHS1, ELAC2, ENO3, ETFA, ETFB, ETFDH, ETHE1, FAH, FARS2, FASTKD2, FBP1, FBXL4, FDX1L, FH, FLAD1, FOXRED1, G6PC, GAA, GAMT, GARS, GATM, GBE1, GCDH, GFER, GFM1 (EFG1), GFM2, GLRX5, GMPPA, GSS, GTPBP3, GYG1, GYG2, GYS1, GYS2, HADHA, HADHB, HARS2, HCFC1, HIBCH, HLCS, HMGCL, HMGCS2, HSD17B10, HSPD1, IARS2, IBA57, ISCA2, ISCU, IVD, LAMP2, LARS, LARS2, LDHA, LIAS, LIPT1, LMBRD1, LRPPRC, LYRM4, LYRM7, MARS, MARS2, MCCC1, MCCC2, MCEE, MFF, MFN2, MGAT2, MGME1, MICU1, MLYCD, MMAA, MMAB, MMACHC, MMADHC (C2ORF25) , MOGS, MPC1 (BRP44L), MPDU1, MPI, MPV17, MRPL12, MRPL3, MRPL44, MRPS16, MRPS22, MRPS7, MTFMT, MTO1, MTPAP, MTR, MTRR, MUT, NADK2, NAGS, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3 (C3ORF60), NDUFAF4 (C6ORF66), NDUFAF5, NDUFAF6, NDUFAF7 (C2ORF56), NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFS1, NFU1, NGLY1, NR2F1, NUBPL, OPA1, OPA3, OTC, PARS2, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PET100, PFKM, PGAM2, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PMM2, PNPT1, POLG, POLG2, PRKAG2, PRPS1, PTRH2, PUS1, PYGM, QARS, RANBP2, RARS, RARS2, REEP1 (C2ORF23), RFT1, RMND1, RRM2B, SARS2, SCO1, SCO2, SDHA, SDHAF1, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3 (PHC), SLC25A38, SLC25A4, SLC2A2, SLC35A1, SLC35A2, SLC35C1, SLC37A4, SLC6A8, SLC7A7, SPAST, SPG7, SPTLC1, SRD5A3, SSR4, STT3A, STT3B, STXBP1, SUCLA2, SUCLG1, SURF1, TACO1, TARS2, TAZ, TIMM8A, TK2, TMEM126A, TMEM165, TMEM70, TPK1, TRIT1, TRMU, TRNT1, TSFM, TTC19, TUFM, TYMP, UQCC2 , UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2, WDR45, WFS1, YARS2

 

Disorders:
2,4-Dienoyl-CoA Reductase Deficiency (DECRD)
3-Hydroxyisobutryl-CoA Hydrolase Deficiency (HIBCH)
3-Methylglutaconic Aciduria Type VII (MGCA7)
Alacrima, Achalasia, and Mental Retardation Syndrome (AAMR)
Alpha-Methylacyl-CoA Racemase Deficiency
Axonal Charcot-Marie-Tooth Disease Type 2 (CMT2N)
Benign Recurrent Intrahepatic Cholestasis-2 (BRIC2)
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Cerebral Creatine Deficiency Syndrome-1 (CCDS1)
Combined D-2- and L-2-Hydroxyglutaric Aciduria
Congenital Disorder of Glycosylation
Congenital Sideroblastic Anemia with B-cell Immunodeficiency, Periodic fevers, and Developmental delay (SIFD)
Fanconi-Bickel Syndrome
Glutathione Synthetase Deficiency (GSSD)
Glycogen Storage Disease 0, Muscle (GSD0B)
Glycogen Storage Disease IIIa; Glycogen Storage Disease IIIb
Glycogen Storage Disease IV
Glycogen Storage Disease IXc (GSD9C)
Glycogen Storage Disease IXd (GDS9D)
Glycogen Storage Disease Type IXa
Glycogen Storage Disease Type IXb (GSD9B)
Glycogen Storage Disease VII (GSD7)
Glycogen Storage Disease X (GSD10)
Glycogen Storage Disease XI (GSD11)
Glycogen Storage Disease XII (GSD12)
Glycogen Storage Disease XIII (GSD13)
Glycogen Storage Disease XV (GSD15)
Hereditary Fructose Intolerance
Hyperammonemia Due to Carbonic Anhydrase VA Deficiency (CA5AD)
Intrahepatic Cholestasis of Pregnancy
Lipoyltransferase 1 Deficiency (LIPT1)
Methylmalonic Acidemia and Hyperhomocysteinemia, cblX Type
Methylmalonic Aciduria and Homocystinuria, cblJ Type
Mitochondrial DNA Depletion Syndrome
Mitochondrial DNA Multiple Deletions
Mitochondrial Short-Chain Enoyl-CoA Hydratase-1 Deficiency (ECHS1D)
Multiple Mitochondrial Dysfunctions Syndrome
Nephrotic Syndrome Type 9 (NPHS9)
Oxidative Phosphorylation (OXPHOS) Deficiency
Perrault Syndrome 4 (PRLTS4)
Primary Coenzyme Q10 Deficiency
Progressive Familial Intrahepatic Cholestasis
Progressive Familial Intrahepatic Cholestasis-2 (PFIC2)
Pyridoxine-Refractory Sideroblastic Anemia
Pyridoxine-Refractory Sideroblastic Anemia, Autosomal Recessive
Spastic Paraplegia 28 (SPG28)
Spastic Paraplegia 4 (SPG4)
Spastic Paraplegia 43 (SPG43)
Spastic Paraplegia 54 (SPG54)
Spastic Paraplegia 74 (SPG74)
Thiamine-Responsive Megaloblastic Anemia Syndrome (TRMA)
Wilson Disease

Source: GeneDx

Complex I Defect

Multi Gene Panel (26 Genes)
Targeted genes: ACAD9 FOXRED1 NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA2 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NUBPL
Source: Medical Genetics Center

Complex II Defect

Multi Gene Panel (7 Genes)
Targeted genes: ISCU SDHA SDHAF1 SDHAF2 SDHB SDHC SDHD
Source: Medical Genetics Center

Complex III Defect

Multi Gene Panel (5 Genes)
Targeted genes: BCS1L TTC19 UQCRB UQCRC2 UQCRQ
Source: Medical Genetics Center

Complex IV Defect

Multi Gene Panel (10 Genes)
Targeted genes: C12orf65 COX10 COX14 COX4I2 COX6B1 ETHE1 FASTKD2 LRPPRC SURF1 TACO1
Source: Medical Genetics Center

Complex V Defect

Multi Gene Panel (4 Genes)
Targeted genes: ATP5A1 ATP5E ATPAF2 TMEM70
Source: Medical Genetics Center

Coenzyme Q10 deficiency

Targeted genes: ADCK3, APTX, COQ2, COQ6, COQ9, ETFDH, PDSS1, PDSS2

Source: CGC Genetics

CoQ10 Deficiency

Multi Gene Panel (11 Genes)
Targeted genes: ADCK3 ANO10 APTX COQ2 COQ6 COQ9 ETFA ETFB ETFDH PDSS1 PDSS2
Source: Medical Genetics Center

Leigh syndrome and mitochondrial encephalopathy panel

Targeted genes: ACAD9, ADCK3, AIFM1, APTX, ATPAF2, BCS1L, C10orf2, NDUFAF6, COQ2, COQ9, COX10, COX15, COX6B1, DARS2, DGUOK, DLAT, DLD, DNM1L, ETFDH, ETHE1, FASTKD2, FH, FOXRED1, GFER, GFM1, LRPPRC, MPV17, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFA13, NDUFAF1, NDUFAF2, NDUFAF4, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL, NDUFA12, NDUFA9, NDUFAF5, SDHA, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, RARS2, SCO1, SCO2, SDHAF1, SUCLA2, SUCLG1, SURF1, TACO1, TK2, TMEM70, TSFM, TTC19, TUFM, TYMP

Source: Centogene

Mitochondrial Anemia

Multi Gene Panel (4 Genes)
Targeted genes: PUS1 SLC19A2 SLC25A38 YARS2
Source: Medical Genetics Center

Mitochondrial Deafness

Multi Gene Panel (8 Genes)
Targeted genes: HARS2 PNPT1 RMND1 SLC33A1 SUCLA2 SUCLG1 TIMM8A WFS1
Source: Medical Genetics Center

Mitochondrial Diseases

Multi Gene Panel (168 Genes)
Targeted genes: AARS2 ABCB7 ABHD5 ACAD9 ACADM ACADS ACADVL ACTG2 ADCK3 AFG3L2 AGK AGL AIFM1 ANO10 APTX ATP5A1 ATP5E ATPAF2 AUH BCS1L BOLA3 C10orf2 C12orf65 CHKB CLPP COQ2 COQ6 COQ9 COX10 COX14 COX15 COX4I2 COX6B1 CPT1A CPT2 DARS2 DGUOK DLAT DLD DNA2 DNAJC19 DPAGT1 EARS2 EIF2AK3 ETFA ETFB ETFDH ETHE1 FARS2 FASTKD2 FBXL4 FDX1L FLAD1 FOXRED1 GARS GBE1 GDAP1 GFAP GFER GFM1 HARS2 IBA57 ISCU KARS KIF5A LAMP2 LARS2 LRPPRC LYRM7 MARS2 MFN2 MGME1 MICU1 MPV17 MRPS16 MRPS22 MTFMT MTO1 MTPAP NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA2 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NFU1 NUBPL OPA1 OPA3 PANK2 PC PDHA1 PDHB PDHX PDP1 PDSS1 PDSS2 PNPLA2 PNPT1 POLG POLG2 PTCD1 PUS1 RARS2 RMND1 RRM2B SARS2 SCO1 SCO2 SDHA SDHAF1 SDHAF2 SDHB SDHC SDHD SERAC1 SLC19A2 SLC19A3 SLC22A5 SLC25A12 SLC25A19 SLC25A20 SLC25A3 SLC25A38 SLC25A4 SLC33A1 SLC6A8 SPG7 SUCLA2 SUCLG1 SURF1 TACO1 TARS2 TAZ TIMM8A TK2 TMEM126A TMEM70 TPK1 TRIT1 TRMU TSFM TTC19 TUFM TYMP UQCRB UQCRC2 UQCRQ VARS2 WFS1 YARS2
Source: Medical Genetics Center

Mitochondrial Disorders

Mitochondrial Disorders (121 Nuclear Genes by Sequencing, 119 Nuclear Genes by Deletion/Duplication)
Genes tested by Sequencing: ABCB7, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, ADCK3, APTX, ASS1, ATPAF2, BCKDHA, BCKDHB, BCS1L, C10orf2, COQ2, COQ9, COX10, COX15, COX4I2, COX6B1, CPT1A, CPT2, CYCS, DARS2, DBT, DGUOK, DLAT, DLD, DNAJC19, DNM1L, ETFA, ETFB, ETFDH, ETHE1, FASTKD2, FH, FXN, GFER, GFM1, HADH, HADHA, HADHB, HMGCL, HMGCS2, HSPD1, ISCU, LARS2, LRPPRC, MCCC2, MFN2, MPV17, MRPS16, MRPS22, NDUFA1, NDUFA11, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, OPA1, OXCT1, PC, PCK2, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PINK1, POLG, POLG2, PPM1B, PREPL, PUS1, RARS2, RRM2B, SCO1, SCO2, SDHAF1, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC3A1, SPG7, SUCLA2, SUCLG1, SUOX, SURF1, TAZ, TIMM8A, TK2, TMEM70, TMPO, TRMU, TSFM, TUFM, TYMP, UQCRB, UQCRQ, WFS1
Source: Arup Laboratories

Mitochondrial Encephalopathy

Multi Gene Panel (131 Genes)
Targeted genes: AARS2 ACAD9 ADCK3 AGK AIFM1 ATP5A1 ATP5E ATPAF2 AUH BCS1L BOLA3 C10orf2 COQ2 COQ6 COQ9 COX10 COX14 COX15 COX4I2 COX6B1 DARS2 DGUOK DLAT DLD DNAJC19 DPAGT1 EARS2 EIF2AK3 ETFA ETFB ETFDH ETHE1 FARS2 FASTKD2 FBXL4 FLAD1 FOXRED1 GFAP GFER GFM1 IBA57 LRPPRC LYRM7 MARS2 MICU1 MPV17 MRPS16 MRPS22 MTFMT MTO1 MTPAP NDUFA1 NDUFA12 NDUFA2 NDUFA9 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NFU1 NUBPL OPA1 PANK2 PC PDHA1 PDHB PDHX PDP1 PDSS1 PDSS2 PNPT1 POLG PTCD1 PUS1 RARS2 RMND1 RRM2B SARS2 SCO1 SCO2 SDHA SDHAF1 SDHAF2 SDHB SDHC SDHD SERAC1 SLC19A2 SLC19A3 SLC25A12 SLC25A19 SLC25A20 SLC25A3 SLC25A4 SLC33A1 SLC6A8 SPG7 SUCLA2 SUCLG1 SURF1 TACO1 TARS2 TAZ TIMM8A TK2 TMEM70 TPK1 TRIT1 TRMU TSFM TTC19 TUFM TYMP UQCRB UQCRC2 UQCRQ VARS2 WFS1 YARS2
Source: Medical Genetics Center

Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel

Targeted genes: AARS2, ACAD9, ACO2, ADCK3 (CABC1; COQ8), AFG3L2, AIFM1, APOPT1, APTX, ATP5A1, ATP5E, ATPAF2 (ATP12), AUH, BCS1L, BOLA3, C10ORF2, C12ORF65, CA5A, COG8, COQ2, COQ4, COQ6, COQ9, COX10, COX14 (C12ORF62), COX15, COX20 (FAM36A), COX6B1, CPT1A, CPT2, CYC1, DARS, DARS2, DGUOK, DLAT, DLD, DNM1L, EARS2, ECHS1, ETFDH, ETHE1, FARS2, FASTKD2, FBP1, FBXL4, FH, FOXRED1, GCDH, GFER, GFM1 (EFG1), GFM2, GTPBP3, GYG2, HIBCH, HLCS, HSPD1, IARS2, IBA57, ISCA2, LARS2, LIAS, LIPT1, LRPPRC, LYRM7, MARS2, MFF, MFN2, MPC1 (BRP44L), MPV17, MRPL44, MRPS22, MTFMT, MTPAP, NADK2, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3 (C3ORF60), NDUFAF4 (C6ORF66), NDUFAF5, NDUFAF6, NDUFAF7 (C2ORF56), NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NUBPL, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PET100, PNPT1, POLG, RANBP2, RARS2, RMND1, RRM2B, SCO1, SCO2, SDHA, SDHAF1, SERAC1, SLC19A3, SLC22A5, SLC25A1, SLC25A15, SLC25A19, SLC25A22, SLC35A2, STXBP1, SUCLA2, SUCLG1, SURF1, TACO1, TARS2, TK2, TMEM70, TPK1, TRMU, TSFM, TTC19, TUFM, TYMP, UQCC2 , UQCC3, UQCRQ, VARS2

Disorders:
2,4-Dienoyl-CoA Reductase Deficiency (DECRD)
3-Hydroxyisobutryl-CoA Hydrolase Deficiency (HIBCH)
Hyperammonemia Due to Carbonic Anhydrase VA Deficiency (CA5AD)
Lipoyltransferase 1 Deficiency (LIPT1)
Mitochondrial Short-Chain Enoyl-CoA Hydratase-1 Deficiency (ECHS1D)
Multiple Mitochondrial Dysfunctions Syndrome
Perrault Syndrome 4 (PRLTS4)
Spastic Paraplegia 74 (SPG74)

Source: GeneDx

Mitochondrial Myopathy

Multi Gene Panel (15 Genes)
Targeted genes: ACADVL C10orf2 CHKB CPT2 ETFA ETFB ETFDH FDX1L ISCU LAMP2 POLG PUS1 RRM2B SLC22A5 TK2
Source: Medical Genetics Center

Mitochondriopathy – Chronic Progressive External Ophthalmoplegia (CPEO)

Multi Gene Panel (9 Genes)
Targeted genes: C10orf2 MGME1 POLG POLG2 RRM2B SLC25A4 SPG7 TK2 TYMP
Source: Medical Genetisc Center

mtDNA Depletion Syndrome NGS Panel

Targeted Genes: C10orf2, DGUOK, MPV17, POLG, POLG2, RRM2B, SLC25A4, SUCLA2, SUCLG1, TK2, TYMP
Source: Fulgent Diagnostics


Mitochondrial Exome/ Genome

mtSEEK® test

Courtagen’s mtSEEK® test uses Next Generation Sequencing to sequence the 16,569 nucleotide bases that make up the 37 genes of the mitochondrial genome.
The analysis and interpretation of a patient’s nuclear mitochondrial exome is valuable for obtaining a definitive diagnosis, estimating prognosis, guiding treatment choices, and determining recurrence risks.
Source: Courtagen

Website

Nuclear-Mito NGS Panel

Number of Targeted Genes: 504
Source: Fulgent Diagnostics

nucSEEK® test

Courtagen’s nucSEEK® test uses Next Generation Sequencing to detect variants in these nuclear genes. The analysis and interpretation of a patient’s nuclear mitochondrial exome is valuable for obtaining a definitive diagnosis, estimating prognosis, guiding treatment choices, and determining recurrence risks.
Source: Courtagen

Website


Multiple Sclerosis

MSPrecise

MSPrecise® is a proprietary next-generation DNA sequencing (NGS) assay for the identification of patients with relapsing-remitting multiple sclerosis (RRMS) at first clinical presentation. MSPrecise utilizes next-generation sequencing to measure DNA mutations found in rearranged immunoglobulin genes in immune cells initially isolated from cerebrospinal fluid. MSPrecise would augment the current standard of care for the diagnosis of MS by providing a more accurate assessment of a patient's immune response to a challenge within the central nervous system.
Source: Amarantus

Website


Muscle Genetics (see also Neurogenetics)

Alpha-Dystroglycanopathy

Multi Gene Panel (13 Genes)
Targeted genes: B3GALNT2 B3GNT1 FKRP FKTN GMPPB ISPD LARGE POMGNT1 POMGNT2 POMK POMT1 POMT2 TMEM5
Source: Medical Genetics Center

Bethlem myopathy panel

Targeted genes: COL6A1, COL6A2, COL6A3, COL12A1

Source: Centogene

Cardiomyopathy in the Context of Neuromuscular Disease

Multi Gene Panel (46 Genes)
Targeted genes: ACTA1 AGL BAG3 CAV3 CHKB CRYAB DES DMD EMD ETFA ETFB ETFDH FHL1 FKRP FKTN FLNC GAA GBE1 GNE LAMP2 LARGE LDB3 LMNA MTO1 MYH7 MYOT PLEC PNPLA2 POMGNT1 POMT1 POMT2 SCO2 SEPN1 SGCA SGCB SGCD SGCG SLC22A5 SLC25A3 SYNE1 SYNE2 TAZ TCAP TMEM43 TTN VCP
Source: Medical Genetics Center

Childhood: Muscle Weakness with High CK (>6x) / Congenital Muscular Dystrophies / Alpha-Dystroglycanopathies

Multi Gene Panel (40 Genes)
Targeted genes: ANO5 B3GALNT2 B3GNT1 CAPN3 CHKB COL6A1 COL6A2 COL6A3 DES DMD DYSF EMD FHL1 FKRP FKTN GMPPB ISPD ITGA7 LAMA2 LARGE LIMS2 LMNA PLEC POMGNT1 POMGNT2 POMK POMT1 POMT2 SEPN1 SGCA SGCB SGCD SGCG STIM1 SYNE1 TCAP TMEM5 TOR1AIP1 TRAPPC11 TRIM32
Source: Medical Genetics Center

Childhood: Muscle Weakness with Normal or Slightly Elevated CK / Congenital Myopathies

Multi Gene Panel (48 Genes)
Targeted genes:
ACTA1 AGRN ALG14 ALG2 BICD2 BIN1 CCDC78 CFL2 CHAT CHRNA1 CHRNB1 CHRND CHRNE COL6A1 COL6A2 COL6A3 COLQ DNM2 DOK7 DPAGT1 DYNC1H1 FHL1 FKBP14 FKRP GAA GBE1 GFPT1 KBTBD13 KLHL40 LIMS2 LRP4 MTM1 MUSK MYH7 NEB PREPL PTRF RAPSN RYR1 SEPN1 SNAP25 STIM1 TK2 TNNT1 TNPO3 TNXB TPM2 TPM3
Source: Medical Genetics Center

Congenital muscular dystrophies (NGS panel)

Targeted genes (31): ANO5, CHKB, COL6A1, COL6A2, COL6A3, DMD, DNM2, DPM2, DYSF, EMD, FHL1, FKRP, FKTN, GMPPB, ISPD, ITGA7, LAMA2, LARGE, LMNA, PABPN1, POMGNT1, POMT1, POMT2, PTRF, SEPN1, SMCHD1, SYNE1, SYNE2, TCAP, TMEM43, TTN

Source: CGC Genetics

Congenital Muscular Dystrophy, Collagen Type VI-Associated (Bethlem/Ullrich) and Phenocopies

Multi Gene Panel (7 Genes)
Targeted genes: COL12A1 COL6A1 COL6A2 COL6A3 FKBP14 PIEZO2 TNXB
Source: Medical Genetics Center

CONGENITAL MUSCULAR DYSTROPHY SEQUENCING PANEL

Targeted Genes
CHKB COL6A1 COL6A2 COL6A3 DAG1 DPM2 DPM3 FKRP FKTN GAA ISPD ITGA7 LAMA2 LARGE LMNA POMGNT1 POMGNT2 (GTDC2) POMK POMT1 POMT2 RYR1 SEPN1 SYNE1 TMEM5

Disorders
Congenital Muscular Dystrophy
Muscular Dystrophy

Source: UCGS

Congenital Myasthenia Syndromes Panel

Targeted genes: AGRN, ALG2, CHAT , CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, DOK7, DPAGT1, GFPT1, MUSK, RAPSN, SCN4A

Source: GeneDx

Congenital Myasthenic Syndrome (CMS)

Multi Gene Panel (17 Genes)
Targeted genes: AGRN ALG14 ALG2 CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ DOK7 DPAGT1 GFPT1 LRP4 MUSK PREPL RAPSN SNAP25
Source: Medical Genetics Center

Congenital myasthenic syndrome panel

Targeted genes: AGRN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, GFPT1, LAMB2, MUSK, PLEC, RAPSN, SCN4A

Source: Centogene

CONGENITAL MYASTHENIC SYNDROME SEQUENCING PANEL

Targeted Genes
AGRN ALG14 ALG2 CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ DOK7 DPAGT1 GFPT1 LRP4 MUSK PREPL RAPSN SCN4A SYT2

Source: UCGS

Congenital Myopathies & Muscular Dystrophies Panel

Targeted genes: ACTA1, BICD2, CFL2, CHKB, COL6A1, COL6A2, COL6A3, FKRP, FKTN, ITGA7, KBTBD13, LAMA2, LMNA, MEGF10, MTM1, NEB, RYR1, SEPN1, SYNE1, TNNT1, TPM2, TPM3

Disorders:
Congenital Muscular Dystrophy (CMD)
Emery-Dreifuss Muscular Dystrophy (EDMD)
Limb-Girdle Muscular Dystrophy (LGMD)
Nemaline Myopathy
Ullrich CMD/Bethlem Myopathy
Walker–Warburg Syndrome

Source: GeneDx

Congenital myopathy panel

Targeted genes: ACTA1, BIN1, CCDC78, CFL2, CNTN1, DNM2, FHL1, KBTBD13, MAMLD1, MTM1, MTMR14, MYF6, MYH7, NEB, RYR1, SEPN1, TNNT1, TPM2, TPM3

Source: Centogene

CONGENITAL MYOPATHY SEQUENCING PANEL

Targeted Genes
ACTA1 BIN1 CCDC78 CFL2 CNTN1 DNM2 KBTBD13 LMOD3 MTM1 MYF6 MYH7 NEB PTPLA RYR1 SEPN1 TNNT1 TPM2 TPM3 TTN

Source: UCGS

CONGENITAL MYOPATHY WITH PROMINENT CONTRACTURES SEQUENCING PANEL

Targeted Genes
COL6A1 COL6A2 COL6A3 EMD LMNA MYH7 RYR1 SEPN1 SYNE1 SYNE2 TMEM43

Disorders
Congenital Myopathy with Prominent Contractures
Congenital myopathy

Source: UCGS

Distal Hereditary Myopathy NGS Panel

Targeted Genes: ANO5, CAV3, CRYAB, DES, DYSF, FHL1, FLNC, GNE, LDB3, MATR3, MYH7, TCAP, TTN, VCP
Source: Fulgent Diagnostics

Dystonia (NGS panel)

Targeted genes (43): ACTB, ANO3, ARSA, ATM, ATP1A3, ATP7B, AUH, BCAP31, CACNA1B, COL6A3, DDC, DRD2, FTL, GCDH, GCH1, GNAL, HEXA, HPCA, KCNMA1, KCTD17, MECP2, MR1, NPC1, NPC2, PANK2, PARK2, PLA2G6, PNKD, PRKRA, PRRT2, SGCE, SLC2A1, SLC30A10, SLC6A3 , SMPD1, SPR, TAF1, TH, THAP1, TIMM8A, TOR1A, TUBB4A, VPS13A

Source: CGC Genetics

Dystonia Dyskinesia NGS Panel

Targeted Genes: ATP1A3, DRD2, DRD5, MR1, PNKD, PRKRA, PRRT2, SCP2, SGCE, SLC6A3, SPR, TAF1, THAP1, TOR1A
Source: Fulgent Diagnostics

Dystonia panel

Targeted genes: TOR1A, THAP1, GCH1, TH, SPR, SLC2A1, CIZ1, PRRT2, PNKD

Source: Centogene

Emery-Dreifuss Muscular Dystrophy

Multi Gene Panel (6 Genes)
Targeted genes: EMD FHL1 LMNA SYNE1 SYNE2 TMEM43
Source: Medical Genetics Center

Histological Myofibrillar Myopathy

Multi Gene Panel (12 Genes)
Targeted genes: BAG3 CRYAB DES FHL1 FLNC GNE LDB3 LMNA MYOT PLEC TTN VCP
Source: Medical Genetics Center

Histological Structural Myopathy (Nemaline / Core / Centronuclear), Congenital Myopathy

Multi Gene Panel (15 Genes)
Targeted genes: ACTA1 BIN1 CCDC78 CFL2 DNM2 KBTBD13 KLHL40 MTM1 MTMR14 NEB RYR1 SEPN1 TNNT1 TPM2 TPM3
Source: Medical Genetics Center

Limb-girdle muscular dystrophies (NGS panel)

Targeted genes (26): ANO5, CAPN3, CAV3, DAG1, DES, DNAJB6, DYSF, FKRP, FKTN, GMPPB, HNRNPDL, LMNA, MYOT, PLEC, POMGNT1, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TRAPPC11, TRIM32, TTN

Source: CGC Genetics

Limb-Girdle Muscular Dystrophy NGS Panel

Targeted Genes: ANO5, CAPN3, CAV3, DES, DNAJB6, DYSF, FKRP, ISPD, LMNA, MYOT, PNPLA2, SGCA, SGCB, SGCD, SGCG, TCAP, TRIM32, TTN
Source: Fulgent Diagnostics

Limb-girdle muscular dystrophy panel

Targeted genes: ANO5, CAPN3, CAV3, DAG1, DNAJB6, DYSF, FKRP, FKTN, LAMA2, LMNA, MYOT, PLEC, POMGNT1, POMT1, POMT2, SEPN1, SGCA, SGCB, SGCD, SGCG, TCAP, TRIM32, TTN (Hotspot testing)

Source: Centogene

Limb-Girdle Muscular Dystrophy Panel

Targeted genes: ANO5, CAPN3, CAV3, DES, DMD, DNAJB6, DYSF, FKRP, FKTN, GAA, GMPPB, LMNA, MYOT, POMGNT1, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TRIM32, TTN

Disorders:
Limb-Girdle Muscular Dystrophy (LGMD)
Walker–Warburg Syndrome

Source: GeneDx

LIMB-GIRDLE MUSCULAR DYSTROPHY SEQUENCING PANEL

Targeted Genes
ANO5 CAPN3 CAV3 DAG1 DES DNAJB6 DYSF FKTN FLNC FRKP GAA GMPPB HNRNPDL ISPD LIMS2 LMNA MYOT PLEC POMGNT1 POMK POMT1 POMT2 SGCA SGCB SGCD SGCG TCAP TNPO3 TRAPPC11 TRIM32 TTN

Source: UCGS

Metabolic myopathies panel

Targeted genes: ABHD5, ACADVL, AGL, CPT2, ENO3, ETFA, ETFB, ETFDH, GAA, GBE1, GYG1, GYS1, LDHA, LPIN1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PNPLA2, PRKAG2, PYGM, SLC22A5, SLC25A20, TAZ

Source: Centogene

Muscle Disease with CNS Involvement

Multi Gene Panel (26 Genes)
Targeted genes: B3GALNT2 B3GNT1 CCDC78 CHKB DPM2 FKRP FKTN GMPPB ISPD LAMA2 LAMP2 LARGE MICU1 MYH7 POMGNT1 POMGNT2 POMK POMT1 POMT2 SIL1 SNAP25 STAC3 SYNE1 TMEM5 TRAPPC11 TTN
Source: Medical Genetics Center

Muscle Disease with Contractures and/or Rigid Spine

Multi Gene Panel (26 Genes)
Targeted genes: ACTA1 CAPN3 CFL2 COL6A1 COL6A2 COL6A3 DNM2 EMD FHL1 GAA KBTBD13 KLHL40 LAMA2 LMNA NEB PIEZO2 RAPSN RYR1 SEPN1 SYNE1 SYNE2 TMEM43 TNNT1 TOR1AIP1 TPM2 TPM3
Source: Medical Genetics Center

Muscle Disease with Distal Myopathy

Multi Gene Panel (28 Genes)
Targeted genes: AGL AGRN ANO5 BAG3 BICD2 CAPN3 CAV3 CCDC78 CHRNA1 CHRNB1 CHRND CHRNE CRYAB DES DYSF FHL1 FLNC GNE LDB3 MATR3 MYH14 MYH7 MYOT PNPLA2 TCAP TIA1 TTN VCP
Source: Medical Genetics Center

Muscle Disease with FSHD Phenocopies

Multi Gene Panel (5 Genes)
Targeted genes: CAPN3 FHL1 SGCA SMCHD1 VCP
Source: Medical Genetics Center

Muscle Disease with Ptosis / External Ophthalmoplegia

Multi Gene Panel (26 Genes)
Targeted genes: AGRN ALG14 ALG2 C10orf2 CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ DNM2 DOK7 DPAGT1 GFPT1 KIF21A LRP4 MTM1 MUSK POLG POLG2 PREPL RAPSN RRM2B RYR1 SLC25A4 TUBB3
Source: Medical Genetics Center

Muscle Weakness (Myopathy, Muscular Dystrophy)

Multi Gene Panel (179 Genes)
Targeted genes: AARS ABHD5 ACAD9 ACADM ACADS ACADVL ACTA1 AGK AGL AGRN ALG14 ALG2 AMACR AMPD1 ANO5 B3GALNT2 B3GNT1 BAG3 BICD2 BIN1 C10orf2 CACNA1S CAPN3 CAV3 CCDC78 CFL2 CHAT CHKB CHRNA1 CHRNB1 CHRND CHRNE CLCN1 CNTN1 COL12A1 COL6A1 COL6A2 COL6A3 COLQ COX15 CPT1A CPT2 CRYAB CUL4B DES DMD DNAJB6 DNM2 DOK7 DPAGT1 DPM2 DYNC1H1 DYSF EGR2 EMD ETFA ETFB ETFDH FDX1L FHL1 FKBP14 FKRP FKTN FLNC GAA GARS GBE1 GDAP1 GFM1 GFPT1 GLRA1 GLRB GMPPB GNE GOSR2 HADH HADHA HADHB HINT1 HNRNPU HSPG2 IGHMBP2 ISCU ISPD ITGA7 KBTBD13 KIF21A KLHL40 LAMA2 LAMP2 LARGE LAS1L LDB3 LIMS2 LMNA LPIN1 LRP4 MATR3 MEGF10 MFN2 MICU1 MPZ MTM1 MTMR14 MTO1 MUSK MYBPC1 MYF6 MYH14 MYH2 MYH7 MYOT NEB NEFL ORAI1 PFKM PGK1 PGM1 PHOX2B PIEZO2 PLEC PNPLA2 POLG POLG2 POMGNT1 POMGNT2 POMK POMT1 POMT2 PREPL PTRF PUS1 PYGM RAPSN RRM2B RYR1 SCN4A SCO2 SDHA SEPN1 SEPT9 SGCA SGCB SGCD SGCG SIL1 SLC22A5 SLC25A20 SLC25A3 SLC25A4 SLC52A3 SLC6A5 SMCHD1 SNAP25 STAC3 STIM1 SYNE1 SYNE2 TAZ TCAP TIA1 TK2 TMEM43 TMEM5 TMEM70 TNNT1 TNPO3 TNXB TOR1AIP1 TPM2 TPM3 TRAPPC11 TRIM32 TRPV4 TTN TTR TUBB3 UBA1 VCP
Source: Medical Genetics Center

Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR)

Multi Gene Panel (90 Genes)
Targeted genes: ABHD5 ACADM ACADVL ACTA1 AGL ANO5 BAG3 BICD2 CAPN3 CAV3 CHKB CHRNA1 CHRNB1 CHRND CHRNE CLCN1 COL6A1 COL6A2 COL6A3 COLQ CPT2 CRYAB DES DMD DNAJB6 DNM2 DOK7 DYNC1H1 DYSF EMD ETFA ETFB ETFDH FHL1 FKRP FKTN FLNC GAA GBE1 GFPT1 GMPPB GNE HADH HADHA HADHB HINT1 HNRNPU ISCU LAMP2 LARGE LDB3 LIMS2 LMNA LPIN1 MATR3 MTM1 MYH2 MYH7 MYOT NEB PLEC PNPLA2 POLG POMGNT1 POMT1 POMT2 PUS1 PYGM RAPSN RRM2B RYR1 SCN4A SEPN1 SGCA SGCB SGCD SGCG SLC22A5 STIM1 TCAP TIA1 TK2 TMEM43 TNPO3 TOR1AIP1 TRAPPC11 TRIM32 TRPV4 TTN VCP
Source: Medical Genetics Center

Muscular Dystrophies NGS Panel

Targeted Genes: (40) ANO5, B4GAT1, CAPN3, CAV3, CHKB, DAG1, DES, DMD, DNAJB6, DPM1, DPM3, DYSF, EMD, FHL1, FKRP, FKTN, GOSR2, ISPD, ITGA7, LAMA2, LARGE, LMNA, MMEL1, MYOT, PNPLA2, POMGNT1, POMGNT2, POMT1, POMT2, PTRF, SGCA, SGCB, SGCD, SGCG, SYNE1, SYNE2, TCAP, TMEM43, TRIM32, TTN
Source: Fulgent Diagnostics

Myasthenic syndrome, congenital

Targeted genes: AGRN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, DPAGT1, GFPT1, LAMB2, MUSK, PLEC, RAPSN, SCN4A, SYT2

Source: CGC Genetics

Myasthenic syndrome fast channel congenital (NGS panel)

Targeted genes: AGRN, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, MUSK, RAPSN

Source: CGC Genetics

Myoclonic dystonia panel

Targeted genes: SGCE, DRD2, TOR1A

Source: Centogene

Myofibrillar Myopathy NGS Panel

Targeted Genes: BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, LDB3, MYOT
Source: Fulgent Diagnostics

Myofibrillar myopathy panel

Targeted genes: BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, LDB3, MYOT

Source: Centogene

Myofibrillar Myopathy Panel

Targeted genes: BAG3, CRYAB , DES, DNAJB6, FHL1, FLNC, LDB3 (ZASP), MYOT

Source: GeneDx

Myopathy-Rhabdomyolysis NGS Panel

Targeted Genes: ACAD9, ACADL, ACADM, ACADVL, AGL, AMPD1, C10orf2, CPT1B, CPT2, ETFA, ETFB, GAA, GYS1, HADHA, HADHB, LPIN1, OPA1, OPA3, PFKM, PGAM2, PGM1, PHKA1, POLG, POLG2, PYGM, RRM2B, SUCLA2, TK2, TYMP
Source: Fulgent Diagnostics

Myopathy-rhabdomyolysis syndrome panel

Targeted genes: ACADL, ACADM, ACADVL, ACAD9, AGL, AMPD1, C10orf2, CPT1B, CPT2, ETFA, ETFB, GAA, GYS1, HADHA, HADHB, LPIN1, OPA1, OPA3, PFKM, PGAM2, PGM1, PHKA1, POLG, POLG2, PYGM, RRM2B, SUCLA2, TK2, TYMP

Source: Centogene

Nemaline Myopathy NGS Panel

Targeted Genes: ACTA1, CFL2, KBTBD13, NEB, TNNT1, TPM2, TPM3
Source: Fulgent Diagnostics

Nemaline myopathy panel

Targeted genes: NEB, ACTA1, CFL2, MTM1, TNNT1, TPM2, TPM3

Source: Centogene

Neuromuscular Disorders Panel

Targeted genes: ACTA1, ANO5, ATP2A1, B3GALNT2, B3GNT1, BAG3, BICD2, BIN1, CACNA1S, CAPN3, CAV3, CFL2, CHKB, CLCN1, CNTN1, COL6A1, COL6A2, COL6A3, CRYAB , DAG1, DES, DMD, DNAJB6, DNM2 , DPM1, DPM2, DPM3, DYNC1H1 , DYSF, EMD, FHL1, FKRP, FKTN, FLCN, GAA, GMPPB, GNE, IGHMBP2, ISPD, ITGA7, KBTBD13, KLHL40, LAMA2, LAMP2, LARGE, LDB3 (ZASP), LMNA, MEGF10, MTM1, MYH7, MYOT, NEB, PHKA1, PLEC, PLEKHG5 , POMGNT1, POMT1, POMT2, PYGM, RYR1, SCN4A, SEPN1, SGCA, SGCB, SGCD, SGCG, SIL1, SYNE1, TCAP, TMEM5, TNNI2, TNNT1, TNPO3, TPM2, TPM3, TRIM32, TRPV4 , TTN, UBA1, VRK1

Disorders:
Becker Muscular Dystrophy (BMD)
Danon Disease
Duchenne Muscular Dystrophy (DMD)
Emery-Dreifuss Muscular Dystrophy (EDMD)
Hereditary Inclusion Body Myopathy (HIBM)
Limb-Girdle Muscular Dystrophy (LGMD)
Muscular Dystrophy-Dystroglycanopathy (LGMD)
Myofibrillar Myopathy (MFM)
Myotonia Congenita
Nemaline Myopathy
Ullrich CMD/Bethlem Myopathy
Walker–Warburg Syndrome

Source: GeneDx

NEUROMUSCULAR DISORDERS SEQUENCING PANEL

Targeted Genes
ACTA1 AGRN ALG14 ALG2 ANO5 BAG3 BIN1 CAPN3 CAV3 CCDC78 CFL2 CHAT CHKB CHRNA1 CHRNB1 CHRND CHRNE CNTN1 COL6A1 COL6A2 COL6A3 COLQ CRYAB DAG1 DES DMD DNAJB6 DNM2 DOK7 DPAGT1 DPM2 DPM3 DYSF EMD FHL1 FKRP FKTN FLNC GAA GFPT1 GMPPB GNE HNRNPDL ISPD ITGA7 KBTBD13 LAMA2 LARGE LDB3 LIMS2 LMNA LMOD3 LRP4 MTM1 MUSK MYF6 MYH7 MYOT NEB PLEC POMGNT1 POMGNT2 POMK POMT1 POMT2 PREPL PTPLA RAPSN RYR1 SCN4A SEPN1 SGCA SGCB SGCD SGCG SYNE1 SYNE2 SYT2 TCAP TMEM43 TMEM5 TNNT1 TNPO3 TPM2 TPM3 TRAPPC11 TRIM32 TTN VCP

Disorders
Bethlem myopathy
Central Core Disease Centronuclear myopathy
Congenital fiber type disproportion
Congenital Muscular Dystrophy
Congenital Myasthenic Syndromes
Congenital myopathy
Duchenne muscular dystrophy
Emery-Dreifuss Muscular Dystrophy
Inclusion body myopathy
Laing distal myopathy
Limb-Girdle Muscular Dystrophy
Muscular Dystrophy
Myofibrillar myopathy
Nemaline myopathy
Pompe disease
Ullrich congenital muscular dystrophy

Source: UCGS

Neuromuscular NGS Panel

Targeted Genes: (50) ACTA1, AMPD1, AMPD3, ANO5, CAPN3, CAV3, COL6A1, COL6A2, COL6A3, DES, DMD, DYSF, EMD, FKRP, FKTN, ITGA7, LAMA2, LARGE, LMNA, MYOT, NEB, PEX1, PEX12, PEX14, PEX2, PEX26, PEX3, PEX5, PEX6, PLEC, PMM2, POMGNT1, POMT1, POMT2, RYR1, RYR2, SEPN1, SGCA, SGCB, SGCD, SGCE, SGCG, SIL1, TCAP, TNNI2, TNNT1, TPM2, TPM3, TRIM32, TTN
Source: Fulgent Diagnostics

Newborn: Neonatal Apneas

Multi Gene Panel (13 Genes)
Targeted genes: CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ GLRA1 GLRB LAS1L PHOX2B RAPSN SCN4A SLC6A5
Source: Medical Genetics Center

Newborn: “Floppy Infant “

Multi Gene Panel (73 Genes)
Targeted genes: ACTA1 AGRN ALG14 ALG2 B3GALNT2 B3GNT1 BICD2 BIN1 CCDC78 CFL2 CHAT CHKB CHRNA1 CHRNB1 CHRND CHRNE CNTN1 COL6A1 COL6A2 COL6A3 COLQ CUL4B DNM2 DOK7 DPAGT1 DPM2 EGR2 FKBP14 FKRP FKTN GAA GARS GBE1 GDAP1 GFPT1 GMPPB IGHMBP2 ISPD ITGA7 KBTBD13 KLHL40 LAMA2 LAMP2 LARGE LAS1L LMNA MEGF10 MFN2 MPZ MTM1 MUSK NEB NEFL PLEC POMGNT1 POMGNT2 POMK POMT1 POMT2 RAPSN RYR1 SCN4A SEPN1 SLC52A3 SYNE1 TCAP TMEM5 TNNT1 TPM2 TPM3 TRPV4 TTN UBA1
Source: Medical Genetics Center

Sarcoglycanopathies (NGS panel)

Targeted genes: SGCA, SGCB, SGCD, SGCG, SGCE

Source: CGC Genetics

Spinal muscular atrophy (NGS panel)

Targeted genes (21): ASAH1, ATP7A, BICD2, BSCL2, CHCHD10, DCTN1, DNAJB2, DYNC1H1, EXOSC8, FBXO38, GARS, HSPB8, IGHMBP2, PLEKHG5, REEP1, SCO2, SLC5A7, TRPV4, UBA1, VAPB, VRK1

Source: CGC Genetics

Syndromic Congenital Muscular Dystrophy Panel

Targeted genes: B3GALNT2, B3GNT1, DAG1, DPM1, DPM2, DPM3, FKRP, FKTN, GMPPB, ISPD, ITGA7, LARGE, LMNA, POMGNT1, POMT1, POMT2, TMEM5, VRK1

Disorders:
Emery-Dreifuss Muscular Dystrophy (EDMD)
Limb-Girdle Muscular Dystrophy (LGMD)
Muscular Dystrophy-Dystroglycanopathy (LGMD)
Walker–Warburg Syndrome

Source: GeneDx

Ullrich muscular dystrophy panel

Targeted genes: COL6A1, COL6A2, COL6A3

Source: Centogene

Walker-Warburg syndrome panel

Targeted genes: FKRP, FKTN, ISPD, LARGE, POMT1, POMT2

Source: Centogene


Neonatal Testing

NewbornDx™ test

The NewbornDx™ test is designed to guide the differential diagnosis of common symptomology found in neonates. It allows a physician to utilize one test to provide an accurate molecular profile on 586 newborn related genes using dried blood spots. Physicians no longer need to depend on severe phenotypes to nominate a single gene test for a given disorder.
Source: Parabase Genomics

Website


Neurogenetics/ Brain (see also Mental Health) 

Aicardi-Goutieres syndrome

Targeted genes: ADAR, IFIH1, TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1

Source: CGC Genetics

Aicardi-Goutières Syndrome

Multi Gene Panel (6 Genes)
Targeted genes: ADAR RNASEH2A RNASEH2B RNASEH2C SAMHD1 TREX1
Source: Medical Genetics Center

Aicardi-Goutieres syndrome panel

Targeted genes: ADAR, IFIH1, TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1

Source: Centogene

AllNeuro panel

Targeted genes: A2M, AAAS, AANAT, AARS, AARS2, AASS, ABAT, ABCA1, ABCB7, ABCC6, ABCC8, ABCD1, ABCD4, ABHD12, ABHD5, ACACA, ACAD9, ACADM, ACADS, ACADSB, ACAT1, ACE, ACO2, ACOX1, ACSF3, ACSL4, ACTA1, ACTA2, ACTB, ACTG1, ACVRL1, ACY1, ADAM10, ADAR, ADCK3, ADK, ADSL, AFF2, AFG3L2, AGA, AGK, AGRN, AGTR2, AGXT, AHCY, AHI1, AIFM1, AIMP1, AKT1, AKT3, ALAD, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALOX5AP, ALS2, ALX1, ALX3, ALX4, AMACR, AMN, AMPD1, AMT, ANG, ANK3, ANKRD11, ANO10, ANO5, AP1S1, AP3B1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APOA1, APOE, APP, APTX, AR, ARFGEF2, ARG1, ARHGAP31, ARHGEF10, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARL13B, ARL6, ARSA, ARSB, ARSE, ARX, ASAH1, ASCL1, ASL, ASNS, ASPA, ASPM, ASS1, ASXL1, ATCAY, ATIC, ATL1, ATM, ATP10A, ATP13A2, ATP1A2, ATP1A3, ATP2A1, ATP2A2, ATP5E, ATP6AP2, ATP6V0A2, ATP7A, ATP8A2, ATPAF2, ATR, ATRX, B3GALTL, B4GALT1, B9D1, B9D2, BAG3, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCOR, BCS1L, BDNF, BIN1, BLOC1S3, BLOC1S6, BOLA3, BRAF, BRAT1, BRWD3, BSCL2, BSND, C10orf2, C12orf57, C12orf65, C19orf12, C5orf42, C9orf72, CA8, CACNA1A, CACNA1D, CACNA1H, CACNA1S, CACNB4, CACNG2, CAMTA1, CASC5, CASK, CASR, CBL, CC2D1A, CC2D2A, CCDC28B, CCDC88C, CCM2, CCT5, CD207, CD320, CD36, CD59, CD96, CDH15, CDK11A, CDK5RAP2, CDKL5, CDON, CENPJ, CEP135, CEP152, CEP290, CEP41, CEP63, CFL2, CHAT, CHD2, CHD8, CHMP2B, CHRM3, CHRNA1, CHRNA2, CHRNA4, CHRNB1, CHRNB2, CHRND, CHRNE, CHSY1, CISD2, CISH, CLCN1, CLCN2, CLCNKA, CLCNKB, CLIC2, CLN3, CLN5, CLN6, CLN8, CNBP, CNTN1, CNTNAP2, CNTNAP4, COA5, COG1, COG4, COG5, COG6, COG7, COG8, COL18A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COL7A1, COLQ, COX10, COX15, COX6B1, CPA6, CPT2, CR1, CRADD, CRBN, CREBBP, CRYAB, CSF1R, CSF2RB, CST3, CSTB, CTC1, CTDP1, CTNNB1, CTSD, CUL4B, CYP11B2, CYP27A1, CYP7B1, DARC, DARS2, DBT, DCAF17, DCTN1, DCX, DDOST, DES, DGUOK, DHCR7, DHH, DIAPH3, DKC1, DLD, DLG3, DMD, DNAH9, DNAJB2, DNAJC19, DNAJC5, DNAJC6, DNM1L, DNM2, DNMT1, DOCK8, DOK7, DOLK, DPAGT1, DPM1, DPM3, DRD2, DRD3, DSC3, DST, DTNBP1, DUX4, DYNC1H1, DYNC2H1, DYRK1A, EARS2, EBP, EDN3, EDNRB, EFHC1, EFTUD2, EGR2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF4E, EIF4G1, ELOVL4, EMX2, ENTPD1, EP300, EPB41L1, EPM2A, ERBB4, ERCC1, ERCC2, ERCC5, ERCC6, ERLIN2, ESCO2, ETHE1, EXOSC3, F2, F5, FA2H, FADD, FAM126A, FAM134B, FANCB, FASTKD2, FBXO7, FCGR2B, FGA, FGD1, FGD4, FGF10, FGF14, FGFR1, FGFR2, FGFR3, FH, FHL1, FIG4, FKRP, FKTN, FLNA, FLVCR1, FLVCR2, FOLR1, FOXG1, FOXP1, FOXP2, FOXP3, FOXRED1, FREM1, FRG1, FRMD7, FTL, FTO, FTSJ1, FUS, FXN, FZD9, GAA, GABRA1, GABRB3, GABRD, GABRG2, GAD1, GALC, GALNS, GAMT, GAN, GARS, GATM, GBA, GBE1, GCH1, GCSH, GDAP1, GDI1, GDNF, GFER, GFM1, GFPT1, GIGYF2, GJB1, GJB3, GJC2, GK, GLB1, GLDC, GLI2, GLI3, GLRA1, GLRB, GM2A, GNPAT, GNS, GOSR2, GP1BA, GPC3, GPR143, GPR56, GPR98, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIP1, GRM1, GRN, GSN, GUSB, HADHA, HADHB, HCCS, HDAC4, HDAC8, HEPACAM, HERC2, HESX1, HEXA, HEXB, HFE, HGSNAT, HK1, HMGCS2, HPD, HPRT1, HPS1, HPS3, HPS4, HPS5, HPS6, HPSE2, HRAS, HSD17B10, HSD17B4, HSPB1, HSPB3, HSPB8, HSPD1, HTRA1, HTRA2, HTT, HUWE1, HYAL1, ICAM1, ICK, IDS, IDUA, IER3IP1, IFRD1, IFT140, IGBP1, IGF1, IGHMBP2, IKBKAP, IKBKG, IL11RA, IL1RAPL1, IL1RN, IL4, INF2, INS, IQSEC2, IRX5, ITM2B, ITPR1, KANK1, KARS, KAT6B, KCNA1, KCNC3, KCND3, KCNE1L, KCNJ1, KCNJ10, KCNJ11, KCNK18, KCNK9, KCNMA1, KCNQ2, KCNQ3, KCTD7, KDM5C, KDM6A, KIAA0196, KIAA0226, KIAA1279, KIAA2022, KIF11, KIF1A, KIF1B, KIF21A, KIF5A, KIF7, KIRREL3, KMT2D, KRAS, KRIT1, KRT5, L1CAM, LAMA2, LAMB1, LAMB2, LAMP2, LARGE, LBR, LGI1, LHX4, LINS, LITAF, LMBRD1, LMNA, LMNB1, LPIN2, LRP2, LRPPRC, LRRK2, LRSAM1, LYZ, LZTFL1, MAGI2, MAGT1, MAN1B1, MAOA, MAPT, MARS2, MASP1, MATR3, MBD5, MBTPS2, MCEE, MCPH1, MECP2, MED12, MED17, MED23, MED25, MEF2C, MET, MFN2, MFSD8, MGAT2, MID1, MKKS, MKS1, MLC1, MMAA, MMAB, MMACHC, MMADHC, MOGS, MPDU1, MPDZ, MPI, MPV17, MPZ, MRE11A, MSX1, MSX2, MTFMT, MTHFR, MTM1, MTMR14, MTMR2, MTO1, MTPAP, MTR, MTRR, MUSK, MUT, MVK, MYCN, MYF6, MYH14, MYH7, MYH9, MYO5A, MYOT, NAA10, NAGA, NAGLU, NAT8L, NBN, NDE1, NDN, NDP, NDRG1, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NEFH, NEFL, NEU1, NF1, NFIX, NFU1, NGF, NHEJ1, NHLRC1, NHS, NIPA1, NIPBL, NKX2-1, NLGN3, NLGN4X, NLRP12, NLRP3, NOD2, NOG, NOP56, NOS2, NOS3, NOTCH2, NOTCH3, NPC1, NPC2, NPHP1, NPHP3, NRAS, NRG1, NRXN1, NSD1, NSDHL, NSUN2, NTRK1, NTRK2, NUBPL, OCLN, OCRL, OFD1, OPA1, OPA3, OPHN1, OPTN, ORC1, OTC, PAFAH1B1, PAH, PAK3, PANK2, PARK2, PARK7, PAX6, PC, PCBD1, PCDH19, PCK2, PCNT, PDCD10, PDE8B, PDHA1, PDYN, PEX1, PEX7, PFN1, PGK1, PGM1, PHF6, PHF8, PHOX2B, PHYH, PIEZO2, PIGA, PIGL, PIGN, PIGO, PIGV, PIK3CA, PIK3R2, PIK3R5, PINK1, PLA2G6, PLCB1, PLEC, PLEKHG4, PLEKHG5, PLP1, PMM2, PMP22, PNKD, PNKP, PNPLA6, PNPO, POLG, POLG2, POLR3A, POLR3B, POMGNT1, POMT1, POMT2, PORCN, PPT1, PQBP1, PREPL, PRICKLE1, PRICKLE2, PRKAG2, PRKCG, PRKCH, PRKRA, PRNP, PROP1, PRPH2, PRPS1, PRRT2, PRRX1, PRSS12, PRX, PSAP, PSEN1, PSEN2, PTCH1, PTEN, PTF1A, PTPN11, PTS, PUS1, PVRL1, QDPR, RAB39B, RAB3GAP1, RAB3GAP2, RAB40AL, RAB7A, RABGGTA, RAD21, RAD50, RAF1, RAI1, RANBP2, RAPSN, RARS2, RBBP8, RBM10, RBM8A, REEP1, RELN, RET, RFT1, RIN2, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF135, RNF170, RNU4ATAC, ROGDI, ROR2, RPGRIP1L, RPL10, RPS6KA3, RRM2B, RTN2, RYR1, SACS, SAMHD1, SBF2, SCARB2, SCN10A, SCN1A, SCN1B, SCN2A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1, SCO2, SCP2, SDCCAG8, SDHA, SDHAF1, SEPSECS, SERPINI1, SETBP1, SETX, SGCE, SGSH, SH3TC2, SHANK2, SHH, SHOC2, SHROOM4, SIGMAR1, SIX3, SIX6, SKI, SLC12A6, SLC16A2, SLC17A5, SLC19A3, SLC1A3, SLC20A2, SLC25A12, SLC25A19, SLC25A22, SLC25A3, SLC25A4, SLC2A1, SLC30A10, SLC33A1, SLC35A1, SLC35C1, SLC3A1, SLC4A1, SLC4A4, SLC5A7, SLC6A3, SLC6A5, SLC6A8, SLC9A6, SLC9A9, SMARCA2, SMARCA4, SMARCAD1, SMARCB1, SMC1A, SMC3, SMN1, SMN2, SMPD1, SMS, SNAP29, SNCA, SNCAIP, SNIP1, SNX3, SOBP, SOD1, SORL1, SOS1, SOX10, SOX3, SPAST, SPG11, SPG20, SPG21, SPG7, SPR, SPTAN1, SPTBN2, SPTLC1, SPTLC2, SRD5A3, SRPX2, ST3GAL3, ST3GAL5, STIL, STRADA, STXBP1, SUCLA2, SUCLG1, SURF1, SYN1, SYNE1, SYNGAP1, SYP, SYT14, TACO1, TAF1, TAF2, TARDBP, TAS2R38, TAZ, TBC1D24, TBCE, TBP, TBX1, TCF4, TCTN1, TCTN2, TDP1, TECR, TFAP2A, TFAP2B, TG, TGFB1, TGFB2, TGFBR1, TGFBR2, TGIF1, TGM6, TH, THAP1, TICAM1, TIMM8A, TIRAP, TK2, TLR3, TLR5, TMCO1, TMEM126A, TMEM138, TMEM165, TMEM216, TMEM237, TMEM67, TMEM70, TMLHE, TNF, TNFSF4, TOR1A, TP63, TPK1, TPM3, TPP1, TRAF3, TRAPPC9, TREM2, TREX1, TRIM32, TRPM6, TRPM7, TRPS1, TRPV4, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSHR, TSPAN7, TTBK2, TTC19, TTC21B, TTC8, TTI2, TTPA, TTR, TUBA1A, TUBA8, TUBB2B, TUBB3, TUBGCP6, TUSC3, TWIST1, TYMP, TYROBP, UBA1, UBE2A, UBE3A, UBQLN2, UCHL1, UMPS, UNC93B1, UPB1, UPF3B, UQCRB, UQCRQ, USP9X, VANGL1, VAPB, VAX1, VCP, VEGFA, VHL, VIPAS39, VLDLR, VPS13A, VPS13B, VPS35, VRK1, WDPCP, WDR45, WDR62, WDR81, WFS1, WNK1, WNT10A, WNT3, WNT5A, WNT7A, WWOX, XBP1, XK, YAP1, YARS, YWHAE, ZBTB16, ZBTB18, ZDHHC15, ZDHHC9, ZEB2, ZFYVE26, ZFYVE27, ZIC2, ZIC3, ZNF335, ZNF41, ZNF592, ZNF674, ZNF711, ZNF81

Source: Centogene

Amyotrophic Lateral Sclerosis (ALS) and Phenocopies

Multi Gene Panel (23 Genes)
Targeted genes: ALS2 ANG BICD2 BSCL2 CHCHD10 DCTN1 FIG4 FUS GBE1 HEXA MATR3 OPTN REEP1 SETX SLC52A2 SLC52A3 SOD1 SPG11 SQSTM1 TARDBP UBQLN2 VAPB VCP
Source: Medical Genetics Center

Amyotrophic Lateral Sclerosis NGS Panel

Targeted Genes: ABCC2, ABCD1, ABCG5, ABHD12, ACAD8, ALS2, ANG, ATXN2, C9orf72, CHGB, CHMP2B, CRYM, DAO, DCTN1, ERBB4, FIG4, FUS, LUM, MATR3, NEFH, OPTN, PFN1, PRPH, PRPH2, SETX, SIGMAR1, SOD1, SPG11, SPG20, SQSTM1, TAF15, TARDBP, UBQLN2, VAPB, VCP, VEGFA
Source: Fulgent Diagnostics

Amyotrophic lateral sclerosis (ALS) panel

Targeted genes: ALS2, ANG, ATXN2, C9orf72, CHMP2B, CHGB, DCTN1, FIG4, FUS, NEFH, OPTN, PFN1, PRPH2, SETX, SIGMAR1, SOD1, SPG20, TARDBP, UBQLN2, VAPB, VCP, VEGFA, VPS54

Source: Centogene

Asper Neurogenetics

Asper Neurogenetics includes genetic tests for the diagnostics of diseases with neurologic and metabolic involvement.

Diseases involved in the testing portfolio are genetically and phenotypically heterogeneous group of severe disorders such as inherited neuropathies and mitochondrial diseases. For the diagnostics of diseases with an overlapping spectrum of phenotypes, we offer a comprehensive variety of tests with different testing strategies.
Source: Asper Biotech

Website

Ataxia

Multi Gene Panel (34 Genes)
Targeted genes: ABCB7 ADCK3 APTX ARG1 ASL ASS1 ATM BCKDHA BCKDHB C12orf65 CACNA1A CACNA1C CACNB4 CPS1 DARS2 DBT IVD KCNA1 KCNA4 OTC PDHA1 POLG PRRT2 SACS SETX SLC1A3 SLC25A15 SLC2A1 SLC2A10 SLC52A2 SLC52A3 SLC6A19 TACO1 TTC19
Source: Medical Genetics Center

AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY TIER 2 SEQUENCING PANEL

Our Autosomal Recessive Primary Microcephaly series employs testing in a sequential manner. Tier 1 includes sequence and deletion/duplication analysis of ASPM, which is the most common gene associated with autosomal recessive primary microcephaly. Tier 2 is our Autosomal Recessive Primary Microcephaly panel, which includes sequence analysis of 18 genes and deletion/duplication analysis of 16 genes.

Targeted genes: CASC5 CDK5RAP2 CDK6 CENPJ CEP135 CEP152 CEP63 MCPH1 MED17 NDE1 PHC1 PNKP SLC25A19 STAMBP STIL WDR62 ZNF335

Source: UCGS

Brain Malformations / Neuronal Migration Disorders

Multi Gene Panel (266 Genes)
Targeted genes: ACSL4 ADAR AFF2 AGTR2 AKT1 AKT3 ALDH7A1 AP1S2 APP ARFGEF2 ARHGEF15 ARHGEF6 ARID1A ARID1B ARX ASAH1 ASPA ASPM ATP13A2 ATP6AP2 ATRX BRWD3 C19orf12 CACNA1H CACNB4 CASK CASR CCND2 CDK5RAP2 CDKL5 CDKN1C CDON CECR1 CENPJ CEP152 CHD2 CHD7 CHD8 CHRNA2 CHRNA4 CHRNB2 CLCN4 CLN3 CLN5 CLN6 CLP1 CNTNAP2 COL4A1 COL4A2 CP CSTB CUL4B CYP27A1 DARS DCAF17 DCX DEPDC5 DIS3L2 DISP1 DKC1 DLG3 DOK7 DYRK1A EEF1A2 EFHC1 EHMT1 EIF2B3 EIF2B5 EIF2S3 EOMES EPM2A EXOSC3 EZH2 FA2H FANCB FGD1 FGF8 FGFR3 FH FLNA FMR1 FOXG1 FOXH1 FTL FTSJ1 GABRA1 GABRD GABRG2 GALC GAMT GDI1 GK GLDC GLI2 GLI3 GNAQ GOSR2 GPC3 GPR56 GPSM2 GRIA3 GRIN2A HCFC1 HCN1 HDAC8 HEPACAM HERC2 HGSNAT HNRNPDL HPRT1 HSD17B10 HTRA1 HUWE1 IDS IGBP1 IKBKAP IL1RAPL1 IQSEC2 ITM2B JAM3 KCNH5 KCNQ2 KCNQ3 KCNT1 KCTD7 KDM5C KDM6A KIAA1279 KIAA2022 KIF2A KIF5C KIF7 KLF8 KPTN L1CAM LGI1 MAGT1 MAOA MBD5 MBTPS2 MECP2 MED12 MEF2C MID1 MLC1 MYBPC1 NAA10 NDE1 NEU1 NFIX NHLRC1 NIPBL NLGN3 NLGN4X NODAL NOL3 NOTCH3 NRXN1 NSD1 NSDHL NXF5 OCLN OFD1 OPHN1 PAFAH1B1 PAK3 PANK2 PCDH19 PGK1 PHF6 PHF8 PHGDH PIK3CA PIK3R2 PLA2G6 PLCB1 PNKP PNPO POLR3A POLR3B PORCN PPT1 PQBP1 PRICKLE1 PRICKLE2 PRRT2 PTCH1 PTCHD1 PTEN QARS RAB39B RAB40AL RAD21 RBM10 RELN RNASEH2A RNASEH2B RNASEH2C RNF135 RPL10 RPS6KA3 SAMHD1 SCARB2 SCN1A SCN1B SCN2A SCN8A SEPSECS SETD2 SGCE SGSH SHROOM4 SLC16A2 SLC25A22 SLC2A1 SLC9A6 SMARCA2 SMARCA4 SMARCB1 SMARCE1 SMC1A SMC3 SMS SOX3 SPTAN1 SRPX2 STIL STUB1 STXBP1 SYN1 SYNGAP1 SYNJ1 SYP TBC1D24 TBC1D7 TCF4 TDGF1 THOC2 TPP1 TREX1 TSC1 TSC2 TSPAN7 TUBA1A TUBA8 TUBB TUBB2A TUBB2B TUBB3 TUBB4A TUBG1 UBE2A UBE3A UPF3B VPS13A WDR45 WDR62 XK ZDHHC15 ZDHHC9 ZEB2 ZMYM3 ZNF41 ZNF674 ZNF711 ZNF81
Source: Medical Genetics Center

Cerebral Cavernous Malformations (CCM) Panel

Targeted genes: CCM2, KRIT1, PDCD10

Source: GeneDx

Cerebral cavernous malformations panel

Targeted genes: CCM2, KRIT1, PDCD10

Source: Centogene

CEREBRAL CORTICAL MALFORMATIONS DELETION/DUPLICATION PANEL

Targeted genes: ACTG1 ARX DCX FKRP FKTN GPR56 KIAA1279 LAMC3 LARGE LIS1 OCLN PAFAH1B1 POMGNT1 POMT1 POMT2 RAB18 RAB3GAP1 RAB3GAP2 RELN RTTN TUBA1A TUBA8 TUBB2B TUBB3 VLDLR

Comprehensive sequence coverage of the coding regions and splice junctions of all genes in this panel is performed. Targets of interests are enriched and prepared for sequencing using the Agilent SureSelect system. Sequencing is performed using Illumina technology and reads are aligned to the reference sequence. Variants are identified and evaluated using a custom collection of bioinformatic tools and comprehensively interpreted by our team of directors and genetic counselors. All novel and/or potentially pathogenic variants are confirmed by Sanger sequencing. The technical sensitivity of this test is estimated to be >99% for single nucleotide changes and insertions and deletions of less than 20 bp.

Source: UCGS

Ceroid lipofuscinosis panel

Targeted genes: CLN3, CLN5, CLN6, CLN8, CTSD, DNAJC5, MFSD8, PPT1, TPP1
Source: Centogene

Charcot-Marie-Tooth disease (NGS panel)

Targeted genes (43): AARS, AIFM1, C12orf65, COX6A1, DHTKD1, DNM2, DYNC1H1, EGR2, FGD4, FIG4, GARS, GDAP1, GJB1, GNB4, HK1, HOXD10, HSPB1, HSPB8, IGHMBP2, INF2, KARS, KIF1B, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, PDK3, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, SBF1, SBF2, SH3TC2, TRIM2, TRPV4, YARS

Source: CGC Genetics

Charcot Marie Tooth Disease Extended NGS Panel

Targeted Genes: (49) AARS, ATL1, ATP7A, BSCL2, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, FAM134B, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GLA, HSPB1, HSPB8, IGHMBP2, IKBKAP, KIF1A, KIF1B, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, REEP1, SBF2, SCN9A, SH3TC2, SLC12A6, SPTLC1, SPTLC2, TRPV4, TTR, WNK1
Source: Fulgent Diagnostics

CMT neuropathy axonal autosomal dominant panel

Targeted genes: AARS, ARHGEF10, DNM2, GAN, GARS, GDAP1, DYNC1H1, HSPB8, HSPB1, KIF1B, LMNA, MED25, MFN2, MPZ, NEFL, RAB7A, SLC12A6, TRPV4, YARS

Source: Centogene

COBBLESTONE LISSENCEPHALY SEQUENCING PANEL

Targeted genes:
ATP6V0A2 B3GALNT2 B3GNT1 FKRP FKTN GMPPB ISPD LAMA2 LAMB1 LARGE POMGNT1 POMGNT2 POMK POMT1 POMT2 SNAP29 SRD5A3 TMEM5

Source: UCGS

Comprehensive Brain Malformations Panel

Targeted genes: ACTB, ACTG1, ADGRG1, AHI1, AKT3, ARFGEF2, ARL13B, ARX, ASPM, ATP6V0A2, B3GALNT2, B3GNT1, B9D1, C5orf42, CASK, CC2D2A, CCND2, CEP290, CEP41, CHMP1A, CLP1, CSPP1, CUL4B, DCX, DYNC1H1 , ERMARD, EXOSC3, FAT4, FKRP, FKTN, FLNA, GMPPB, GPSM2, IFT172, INPP5E, ISPD, KIAA1279, KIF2A, KIF5C, KIF7, LAMB1, LAMC3, LARGE, MKS1, NDE1, NPHP1, NPHP3, OCLN, OFD1 (CXORF5), OPHN1, PAFAH1B1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RARS2, RELN, RPGRIP1L, RTTN, SEPSECS, SRD5A3, SRPX2, TBC1D20, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM5, TMEM67, TSEN2, TSEN34, TSEN54, TTC21B, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, VLDLR, VPS53, VRK1, WDR62

Disorders:
Joubert Syndrome
Macrocephaly
Microcephaly
Pontocerebellar Hypoplasia (PCH)

Source: GeneDx

Comprehensive Hereditary Spastic Paraplegia Panel

Targeted genes: AP4B1, AP4E1, AP4M1, AP4S1, ATL1, B4GALNT1, BSCL2 , C12ORF65, CYP2U1, CYP7B1, DDHD1, DDHD2, ERLIN2, FA2H, GBA2, GJC2, KIAA0196, KIF1A , KIF1C, KIF5A, L1CAM, NIPA1, NT5C2, PLP1, PNPLA6, REEP1 (C2ORF23), RTN2, SLC16A2, SPAST, SPG11, SPG20, SPG21, SPG7, TECPR2, VPS37A, ZFYVE26

Disorders:
Complicated Hereditary Spastic Paraplegias
Hereditary Spastic Paraplegia
Uncomplicated Hereditary Spastic Paraplegias

Source: GeneDx

COMPREHENSIVE LISSENCEPHALY PANEL

Targeted genes: ACTB ACTG1 ARX ATP6VOA2 B3GALNT2 B3GNT1 DCX FKRP FKTN GMPPB ISPD LAMA2 LAMB1 LARGE NDE1 PAFAH1B1 POMGNT1 POMGNT2 POMT1 POMT2 RELN SNAP29 SRD5A3 TMEM5 TUBA1A VLDLR

Source: UCGS

COMPREHENSIVE PRIMORDIAL DWARFISM SEQUENCING PANEL

Targeted Genes
ATR CDC6 CDT1 CENPJ CEP152 CEP63 LARP7 LIG4 NIN ORC1 ORC4 ORC6 PCNT POC1A RBBP8 RNU4ATAC

Disorders
Microcephalic Osteodysplastic, Primordial Dwarfism type II, Seckel Syndrome, Meier-Gorlin syndrome, Primordial dwarfism, Microcephalic Osteodysplastic Primordial Dwarfism type I

Source: UCGS

Congenital Myasthenic Syndrome NGS Panel

Targeted Genes: AGRN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, DOK7, GFPT1, MUSK, RAPSN, SCN4A
Source: Fulgent Diagnostics

Cortical Brain Malformations Panel

Targeted genes:
ACTB, ACTG1, ADGRG1, AKT3, ARFGEF2, ARX, ASPM, ATP6V0A2, B3GALNT2, B3GNT1, CCND2, CUL4B, DCX, DYNC1H1 , ERMARD, FAT4, FKRP, FKTN, FLNA, GMPPB, GPSM2, ISPD, KIAA1279, KIF2A, KIF5C, LAMB1, LAMC3, LARGE, NDE1, OCLN, PAFAH1B1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RELN, RTTN, SRD5A3, SRPX2, TBC1D20, TMEM5, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, VLDLR, WDR62

Source: GeneDx

Dejerine-Sottas syndrome panel

Targeted genes: MPZ, PMP22, PRX, EGR2, GJB1

Source: Centogene

Demyelinating CMT Panel

Targeted genes: DNM2 , EGR2 , FGD4 , FIG4, GDAP1 , GJB1 , INF2, LITAF , MFN2, MPZ , MTMR2 , NDRG1 , NEFL , PMP22 , PRPS1 , PRX , SBF2 , SH3TC2 , YARS

Disorder:
Charcot Marie Tooth (CMT)

Source: GeneDx

Distal Hereditary Motor Neuropathy NGS Panel

Targeted Genes: ATP7A, BSCL2, DCTN1, DNMT1, FIG4, GAN, GARS, HSPB1, HSPB8, IGHMBP2, MEGF10, REEP1, SETX, SLC5A7, TRPV4
Source: Fulgent Diagnostics

Episodic ataxia panel

Targeted genes: CACNA1A, CACNB4, KCNA1, SLC1A3

Source: Centogene

FACIAL DYSOSTOSIS SEQUENCING PANEL

Targeted Genes
ALX1 ALX3 ALX4 CHD7 DHODH EFNB1 EFTUD2 EVC EVC2 MYCN PDE4D POLR1C POLR1D PRKAR1A SF3B4 TCOF1 ZSWIM6

Disorders
CHARGE syndrome, Miller syndrome, Mandibulofacial dysostosis with microcephaly, Feingold syndrome, Treacher Collins syndrome, Nager syndrome

Source: UCGS

Familial Hemiplegic Migraine

Multi Gene Panel (5 Genes)
Targeted genes: ATP1A2 ATP1A3 CACNA1A SCN1A SLC2A1
Source: Medical Genetics Center

Familial hemiplegic migraine panel

Targeted genes: ATP1A2, CACNA1A, SCN1A

Source: Centogene

Fetal akinesia / Arthrogryposis Multiplex Congenital (AMC)

Multi Gene Panel (164 Genes)
Targeted genes:
ABHD5 ACADM ACADS ACADVL ACTA1 ACTB ACTG1 ADCY6 ADSL AGL AGRN AIMP1 ALG14 ALG2 ANO5 B3GALNT2 B3GNT1 BAG3 BICD2 BIN1 CAPN3 CAV3 CCDC78 CFL2 CHAT CHKB CHRNA1 CHRNB1 CHRND CHRNE CHST14 CNTN1 CNTNAP1 COL6A1 COL6A2 COL6A3 COLQ CPT2 CRYAB CTDP1 CUL4B DES DMD DNAJB6 DNM2 DOK7 DPAGT1 DPM2 DYNC1H1 DYSF ECEL1 EGR2 EMD ERBB3 ERCC6 ETFA ETFB ETFDH EXOSC3 FAM20C FBN2 FGFR2 FHL1 FKBP10 FKBP14 FKRP FKTN FLNB FLNC GAA GARS GBA GBE1 GDAP1 GFPT1 GLE1 GMPPB GNE HADH HADHA HADHB HRAS HSPG2 IBA57 IGHMBP2 ISCU ISPD ITGA7 KBTBD13 KLHL40 LAMA2 LAMP2 LARGE LAS1L LDB3 LMNA LPIN1 MATR3 MEGF10 MFN2 MPZ MTM1 MTMR1 MUSK MYBPC1 MYH2 MYH3 MYH7 MYH8 MYOT NEB NEFL PFKM PIEZO2 PIP5K1C PLEC PLOD2 PNPLA2 POLG POMGNT1 POMGNT2 POMK POMT1 POMT2 PYGM RAPSN RIPK4 RRM2B RYR1 SEPN1 SEPSECS SGCA SGCB SGCD SGCG SIL1 SLC22A5 SLC35A3 SLC52A3 SNAP25 SYNE1 SYNE2 TCAP TK2 TMEM43 TMEM5 TNNI2 TNNT1 TNNT3 TPM2 TPM3 TRIM32 TRPV4 TSEN2 TSEN34 TSEN54 TTN UBA1 UTRN VIPAS39 VPS33B ZBTB42 ZC4H2 ZMPSTE24
Source: Medical Genetics Center

Hereditary ataxias (NGS panel)

Targeted genes (44): PNKP, ABCB7, ABHD12, ADCK3, AFG3L2, ANO10, APTX, ATM, CACNA1A, CACNB4, CCDC88C, DNMT1, EEF2, ELOVL4, ELOVL5, FGF14, FXN, ITPR1, KCNA1, KCNC3, KCND3, MRE11A, MTPAP, MTTP, PDYN, PIK3R5, PLEKHG4, POLG, PRKCG, SACS, SETX, SIL1, SLC1A3, SPTBN2, SYNE1, SYT14, TDP1, TGM6, TMEM240, TTBK2, TTPA, VAMP1, VLDLR, ZNF592

Source: CGC Genetics

Hereditary Neuropathies NGS Panel

Targeted Genes: (33) AARS, ATL1, DNM2, DNMT1, DYNC1H1, EGR2, FGD4, GARS, GDAP1, GJB1, GLA, HSPB1, HSPB8, KIF1B, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, PMP22, PRX, RAB7A, SBF2, SCN9A, SH3TC2, SPTLC2, TRPV4, TTR, YARS
Source: Fulgent Diagnostics

Hereditary Neuropathy Panel

Targeted genes: AARS, ATL1, ATP7A, BSCL2 , DNAJB2 , DNM2 , DNMT1 , DYNC1H1 , EGR2 , FAM134B , FGD4 , FIG4, GAN , GARS, GDAP1 , GJB1 , GLA, HINT1, HSPB1 , HSPB8 , IGHMBP2, IKBKAP , INF2, KIF1A , KIF5A, LITAF , LMNA, LRSAM1 , MFN2, MPZ , MTMR2 , NDRG1 , NEFL , NGF , NTRK1, PLEKHG5 , PMP22 , PRPS1 , PRX , RAB7A, REEP1 (C2ORF23), SBF2 , SCN9A, SH3TC2 , SLC12A6 , SLC52A2, SPTLC1 , SPTLC2 , TFG , TRPV4 , TTR, WNK1, YARS

Disorders:
Brown-Vialetto-Van Laere Syndrome
CMT with Focal Segmental Glomerulosclerosis
Charcot Marie Tooth (CMT)
Congenital Insensitivity to Pain (CIP)
Congenital Insensitivity to Pain with Anhidrosis
Distal Motor Neuropathy
Fabry Disease
Familial Dysautonomia
Familial Transthyretin Amyloidosis
HSAN with Spastic Paraplegia
Hereditary Sensory and Autonomic Neuropathy (HSAN)
Hereditary Sensory and Autonomic Neuropathy I (HSAN I)
Hereditary Sensory and Autonomic Neuropathy II (HSAN II)
Hereditary Sensory and Autonomic Neuropathy III (HSAN III)
Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV)
Hereditary Sensory and Autonomic Neuropathy V (HSAN V)
Inherited Erythromelalgia (IEM)
Menkes Disease
Occipital Horn Disease
Paroxysmal Extreme Pain Disorder (PEPD)
Riley Day Syndrome
Rosenberg-Chutorian Syndrome
Small Fiber Neuropathy (SFN)
Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)

Source: GeneDx

Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease

Targeted genes: AARS, ABHD12, AIFM1, ARHGEF10, ATL1, ATL3, BSCL2, C10orf2, C12orf65, COX6A1, CTDP1, DCAF8, DHTKD1, DNM2, DNMT1, DST, DYNC1H1, EGR2, FAM134B, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HINT1, HK1, HOXD10, HSPB1, HSPB8, IGHMBP2, IKBKAP, INF2, KARS, KIF1A, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, PDK3, PHYH, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, REEP1, SBF1, SBF2, SCN11A, SCN9A, SEPT9, SH3TC2, SLC12A6, SOX10, SPTLC1, SPTLC2, TFG, TRIM2, TRPV4, TTR, TYMP, WNK1, YARS

Source: CGC Genetics

Hereditary spastic paraplegia

Targeted genes: AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ATL1, B4GALNT1, BSCL2, C12orf65, C19orf12, CYP2U1, CYP7B1, DDHD1, DDHD2, ENTPD1, ERLIN2, FA2H, GBA2, GJC2, HSPD1, KIAA0196, KIF1A, KIF5A, L1CAM, NIPA1, NT5C2, PLP1, PNPLA6, REEP1, RTN2, SLC33A1, SPAST, SPG11, SPG20, SPG21, SPG7, TECPR2, TFG, VPS37A, ZFYVE26, ZFYVE27

Source: CGC Genetics

Hereditary spastic paraplegia, AD

Targeted genes: ATL1, BSCL2, HSPD1, KIAA0196, KIF5A, NIPA1, REEP1, SLC33A1, SPAST, ZFYVE27

Source: CGC Genetics

Hereditary Spastic Paraplegia (HSP)

Multi Gene Panel (40 Genes)
Targeted genes: AAAS ATL1 BICD2 BSCL2 C12orf65 C19orf12 CLCN2 DARS2 FA2H FAM134B GAN GBE1 GRID2 HSPD1 KIAA0196 KIF1A KIF1C KIF5A L1CAM LYST MARS2 NIPA1 OPA3 PANK2 PLA2G6 PLP1 PNPLA6 REEP1 RTN2 SACS SLC16A2 SLC33A1 SPAST SPG11 SPG7 TTR UBQLN2 VAMP1 WWOX ZFYVE27
Source: Medical Genetics Center

Holoprosencephaly

Targeted genes: CDON, FGF8, GLI2, GLI3, PTCH1, SHH, SIX3,TGIF1, ZIC2

Source: CGC Genetics

Holoprosencephaly

Multi Gene Panel (8 Genes)
Targeted genes: CDON DISP1 FGF8 FOXH1 GLI2 NODAL PTCH1 TDGF1
Source: Medical Genetics Center

Holoprosencephaly NGS Panel

Targeted Genes: CDON, GLI2, PTCH1, SHH, SIX3, TGIF1, ZIC2
Source: Fulgent Diagnostics

Holoprosencephaly panel

Targeted genes: CDON, FGF8, GLI2, GLI3, PTCH1, SHH, SIX3, TGIF1, ZIC2

Source: Centogene

Holoprosencephaly Panel & Del/Dup

Targeted genes: SHH, SIX3, TGIF, ZIC2

Source: GeneDx

HOLOPROSENCEPHALY SEQUENCING PANEL

Targeted Genes
CDON FGF8 FGFR1 GLI2 PTCH1 SHH SIX3 TGIF1 ZIC2

Source: UCGS

Hyperekplexia

Multi Gene Panel (5 Genes)
Targeted genes: ARHGEF9 GLRA1 GLRB GPHN SLC6A5
Source: Medical Genetics Center

Hyperekplexia (NGS panel)

Targeted genes: ARHGEF9, GLRA1, GLRB, GPHN, SLC6A5, FKTN, ASNS

Source: CGC Genetics

Hyperekplexia panel

Targeted genes: ARHGEF9, GLRA1, GLRB, GPHN, SLC6A5

Source: Centogene

Invitae Charcot-Marie-Tooth Disease Comprehensive Panel

This 32-gene panel covers the most common genes associated with CMT types 1, 2, 4, X, and dominant intermediate. Across all types of CMT, four genes account for the majority of cases (50%-75%): PMP22, MPZ, GJB1, and MFN2. Other genes that have been identified as rare causes of CMT are also included in this test and contribute to a higher detection rate, though the exact contribution of these additional genes is not known.
Source: Invitae

Invitae Dystonia Comprehensive Panel

The Invitae Dystonia Comprehensive Panel analyzes up to 18 genes associated with the dystonias, a group of movement disorders characterized by sustained muscle contractions that lead to abnormal postures and repetitive movements. These genes were curated based on current available evidence to provide a comprehensive test for the genetic causes of monogenic dystonias, which comprises both isolated and combined dystonias.
Source: Invitae

Invitae Hereditary Spastic Paraplegia Comprehensive Panel

The Invitae Hereditary Spastic Paraplegia Comprehensive Panel analyzes up to 43 genes associated with hereditary spastic paraplegia (HSP). These genes include the most common causes of autosomal dominant, autosomal recessive, and X-linked HSP.
Source: Invitae

Leukodystrophy and peroxisome biogenesis disorders panel

Targeted genes: ABCD1, AIMP1, ARSA, ASPA, BEST1, CSF1R, CYP27A1, DARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FA2H, FAM126A, GALC, GFAP, GJC2, HEPACAM, HSPD1, MLC1, NDUFV1, NOTCH3, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PLP1, POLR3A, POLR3B, PSAP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SDHA, SLC16A2, SOX10, SUMF1, TREM2, TREX1, HSD17B4, LMNB1, PEX11B, PHYH, SCP2, SDHAF1, TYROBP

Source: Centogene

Leukoencephalopathy NGS Panel

Targeted Genes: ABAT, ACOX1, ALDH3A2, ARSA, ASPA, CSF1R, DARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FAM126A, GFAP, GJC2, HEPACAM, HSPD1, HTRA1, LMNB1, MLC1, NOTCH3, PLP1, PSAP, PTEN, SCP2, SLC25A12
Source: Fulgent Diagnostics

Leukoencephalopathy with vanishing white matter (NGS panel)

Targeted genes: EIF2B5, EIF2B1, EIF2B2, EIF2B3, EIF2B4

Source: CGC Genetics

Lissencephaly

Multi Gene Panel (7 Genes)
Targeted genes: DCX KIF2A PAFAH1B1 RELN TUBA1A TUBB2B TUBG1
Source: Medical Genetics Center

Lissencephaly (NGS panel)

Targeted genes: ARX, DCX, NDE1, PAFAH1B1, POMT1, POMT2, RELN, TUBA1A, YWHAE, CDK5, LAMB1, KATNB1

Source: CGC Genetics

Lissencephaly NGS Panel

Targeted Genes: ACTB, ACTG1, ARX, DCX, FKRP, FKTN, LARGE, PAFAH1B1, POMGNT1, POMT1, POMT2, RELN, TUBA1A, VLDLR
Source: Fulgent Diagnostics

Lissencephaly panel

Targeted genes: ARX, DCX, NDE1, PAFAH1B1, POMT1, POMT2, RELN, TUBA1A, YWHAE

Source: Centogene

Lissencephaly Panel

Targeted genes: ACTB, ACTG1, ARX, ATP6V0A2, B3GALNT2, B3GNT1, DCX, FKRP, FKTN, GMPPB, ISPD, LAMB1, LARGE, NDE1, PAFAH1B1, POMGNT1, POMGNT2, POMT1, POMT2, RELN, TMEM5, TUBA1A, VLDLR, WDR62

Disorders:
Alpha-Dystroglycanopathies
Lisencephaly

Source: GeneDx

Malformations of Cortical Development

Multi Gene Panel (2 Genes)
Targeted genes:
EFHC1 FGFR3
Source: Medical Genetics Center

Macrocephaly

Multi Gene Panel (42 Genes)
Targeted genes: ABCC6 AKT1 AKT3 ASPA BRWD3 CCND2 CDKN1C CHD8 CUL4B DIS3L2 DNMT3A EIF2B5 EZH2 GFAP GLI3 GNAQ GPC3 GPSM2 GRIA3 HEPACAM HUWE1 KIAA0196 KIF7 KPTN L1CAM MED12 MLC1 NFIX NSD1 OFD1 PIK3CA PIK3R2 PTCH1 PTEN RAB39B RNF135 SETD2 SYN1 TBC1D7 TSC1 TSC2 UPF3B
Source: Medical Genetics Center

Macrocephaly (NGS panel)

Targeted genes: AKT3, ASPA, DHCR24, EZH2, GFAP, GPC3, HEPACAM, MED12, MLC1, NFIX, NSD1, PIGA, PIGN, PIK3CA, PIK3R2, PTEN

Source: CGC Genetics

MACROCEPHALY SEQUENCING PANEL

Targeted Genes
CUL4B EZH2 GLI3 GPC3 HEPACAM MED12 NFIA NFIX NSD1 OFD1 PTEN RAB39B RIN2 RNF135 UPF3B

Disorders
Greig cephalopolysyndactyly syndrome
Macrocephaly
Marshall-Smith syndrome
Opitz-Kaveggia syndrome
Simpson-Golabi-Behmel syndrome
Sotos syndrome
Weaver syndrome

Source: UCGS

Megalencephaly

Multi Gene Panel (8 Genes)
Targeted genes: AKT1 AKT3 CCND2 PIK3CA PIK3R2 PTEN TSC1 TSC2
Source: Medical Genetics Center

Microcephaly and pontocerebellar hypoplasia

Targeted genes: AMPD2, AP4M1, ASPM, ATR, BUB1B, CASC5, CASK, CDK5RAP2, CENPJ, CEP135, CEP152, CEP63, CHMP1A, CLP1, DNM1L, DYNC1H1, DYRK1A, EFTUD2, EXOSC3, IER3IP1, KIF11, KIF2A, KIF5C, LIG4, MBD5, MCPH1, MED17, NDE1, NHEJ1, NIN, OPHN1, PAFAH1B1, PCNT, PNKP, POMT1, PQBP1, RARS2, RBBP8, SEPSECS, SLC25A19, STAMBP, STIL, TSEN2, TSEN34, TSEN54, TUBB2B, TUBG1, TUBGCP6, VPS53, VRK1, WDR62, ZNF335

Source: CGC Genetics

Microcephaly NGS Panel

Targeted Genes: (35) AKT3, BUB1B, CASK, CDK5RAP2, CENPJ, CEP135, CEP152, CEP63, DNM1L, EFTUD2, IER3IP1, KIF11, LIG4, MCPH1, MED17, MRE11A, MSMO1, NDE1, NHEJ1, NR2E1, PAFAH1B1, PCNT, PNKP, POMT1, PQBP1, RARS2, SLC25A19, STIL, TSEN2, TSEN34, TSEN54, TUBB2B, TUBGCP6, VRK1, WDR62
Source: Fulgent Diagnostics

Microcephaly panel

Targeted genes: AKT3, AP4M1, ASPM, CASK, CDK5RAP2, CENPJ, CEP135, CEP152, CEP63, DNM1L, EFTUD2, IER3IP1, KIF11, MCPH1, MRE11A, MSMO1, NDE1, NHEJ1, NR2E1, PAFAH1B1, PCNT, PNKP, POMT1, SLC25A19, STIL, TUBB2B, TUBGCP6, WDR62

Source: Centogene

Microcephaly Panel

Targeted genes: ASPM, ATR, ATRX, CASK, CDK5RAP2, CDKL5, CENPJ, CEP152, DHCR7, FOXG1, IER3IP1, MCPH1, MECP2, MYCN, NIPBL, PCNT, RAB18, RAB3GAP1, RAB3GAP2, RBBP8, SLC25A19, SLC9A6, STIL, TCF4, TUBB3, UBE3A, WDR62, ZEB2

Source: GeneDx

MICROCEPHALY SEQUENCING PANEL

Targeted Genes
ARFGEF2 ASPM ASXL3 ATR ATRX CASC5 CASK CDC6 CDK5RAP2 CDK6 CDKL5 CDT1 CENPJ CEP135 CEP152 CEP63 DYRK1A FOXG1 IER3IP1 KIF11 LIG4 MCPH1 MECP2 MED17 NBN NDE1 NHEJ1 NIN ORC1 ORC4 ORC6 PCNT PHC1 PNKP RAB18 RAB3GAP1 RAB3GAP2 RAD50 RBBP8 SLC25A19 SLC2A1 SLC9A6 STAMBP STIL TBC1D20 TCF4 TRAPPC9 TRMT10A TSEN2 TSEN34 TSEN54 TUBGCP6 UBE3A WDR62 ZEB2 ZNF335

Disorders
Microcephaly, Autosomal recessive primary microcephaly

Source: UCGS

Myotonia

Multi Gene Panel (8 Genes)
Targeted genes: ACTA1 CAV3 CLCN1 GAA HINT1 HSPG2 PTRF SCN4A
Source: Medical Genetics Center

Neurodegeneration with Brain Iron Accumulation (NBIA)

Multi Gene Panel (12 Genes)
Targeted genes: ATL1 ATP13A2 C19orf12 CP DCAF17 FA2H FTL IBA57 PANK2 PLA2G6 SPAST WDR45
Source: Medical Genetics Center

Neurodegeneration with Brain Iron Accumulation (NBIA) Panel

Neurodegeneration with Brain Iron Accumulation (NBIA) is a group of neurodegenerative diseases caused by iron accumulation in the basal ganglia leading to progressive dystonia, parkinsonism, neurocognitive anomalies, and ophthalmologic disorders.
Next generation sequencing using Ion Torrent technology of the 15 NBIA-associated genes.
Source: Knight Diagnostic Laboratories

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION (NBIA) SEQUENCING PANEL

Targeted Genes
ATP13A2 C19orf12 CP DCAF17 FA2H FTL PANK2 PLA2G6 WDR45

Souce: UCGS

Neuronal ceroid lipofuscinosis

Targeted genes: CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, MFSD8, PPT1, TPP1

Source: CGC Genetics

Neuronal Ceroid Lipofuscinoses NGS Panel

Targeted Genes: CLN3, CLN5, CLN6, CLN8, CTSD, DNAJC5, KCTD7, MFSD8, PPT1, TPP1
Source: Fulgent Diagnostics

NEURONAL CEROID-LIPOFUSCINOSES PANEL

Targeted Genes
CLN3 CLN5 CLN6 CLN8 CTSD MFSD8 PPT1 TPP1

Source: UCGS

Neuronal migration disorders panel

Targeted genes: ACTB, ACTG1, ARFGEF2, ARX, COL18A1, COL4A1, CPT2, DCX, EMX2, EOMES, FGFR3, FH, FKRP, FKTN, FLNA, GPR56, IER3IP1, ISPD, LAMA2, LAMC3, LARGE, MED12, MEF2C, OCLN, PAFAH1B1, PAX6, PEX7, POMGNT1, POMT1, POMT2, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RELN, SNAP29, SRPX2, TUBA1A, TUBA8, TUBB2B, TUBB3, VDAC1, WDR62

Source: Centogene

Neuronal Migration with Microcephaly

Multi Gene Panel (6 Genes)
Targeted genes: ASPM CDK5RAP2 CENPJ CEP152 STIL WDR62
Source: Medical Genetics Center

Neuropathy

Multi Gene Panel (122 Genes)
Targeted genes: AAAS AARS ABCA1 ABHD12 AIFM1 ALS2 AMACR ANG ARHGEF10 ATL1 ATL3 ATP7A BICD2 BSCL2 C12orf65 CHCHD10 CLP1 COX10 CTDP1 CYP27A1 DCAF8 DCTN1 DNAJB2 DNM2 DNMT1 DYNC1H1 EGR2 FAM126A FAM134B FBLN5 FGD4 FIG4 FUS FXN GAA GAN GARS GBE1 GDAP1 GJB1 HADHA HADHB HARS HEXA HINT1 HK1 HSPB1 HSPB3 HSPB8 IFRD1 IGHMBP2 IKBKAP INF2 KARS KIF1A KIF5A KLHL13 LARS LAS1L LITAF LMNA LRSAM1 MARS MATR3 MED25 MFN2 MICAL1 MPZ MTMR2 MYH14 NDRG1 NDUFAF5 NEFL NGF NIPA1 NTRK1 OPTN PDHA1 PDK3 PEX12 PLEKHG5 PLP1 PMP22 POLG PRPS1 PRX RAB7A REEP1 SACS SBF2 SCN10A SCN11A SCN9A SEPT9 SETX SH3BP4 SH3TC2 SLC12A6 SLC52A2 SLC52A3 SLC5A7 SMAD3 SOD1 SPAST SPG11 SPTLC1 SPTLC2 SQSTM1 SURF1 TARDBP TDP1 TFG TNNT2 TRPV4 TTR TYMP UBQLN2 VAPB VCP VRK1 WNK1 YARS
Source: Medical Genetics Center

Non-dystrophic myotonias (NGS)

Targeted genes: ATP2A1, CACNA1A, CACNA1S, CAV3, CLCN1, HINT1, HSPG2, KCNA1, KCNE3, KCNJ18, SCN4A

Source: CGC Genetics

Pantothenate kinase-associated neurodegeneration panel

Targeted genes: ATP13A2, C19orf12, CP, DCAF17, FA2H, FTL, PANK2, PLA2G6, WDR45

Source: Centogene

Parkinson disease

Targeted genes: ATP13A2, DNAJC6, FBXO7, LRRK2, PARK2, PARK7, PINK1, PLA2G6, SNCA, VPS35

Source: CGC Genetics

Parkinson disease (32)

Targeted genes: ADH1C, ATP13A2, ATP1A3, ATP6AP2, CSF1R, DCTN1, DNAJC6, EIF4G1, FBXO7, FTL, GBA, GCH1, GIGYF2, HTRA2, LRRK2, MAPT, PARK2, PARK7, PDXK, PINK1, PLA2G6, POLG, PRKRA, SLC6A3, SNCA, SNCAIP, SNCB, SYNJ1, TAF1, TH, UCHL1, VPS35

Source: CGC Genetics

Parkinsons disease panel

Targeted genes: SNCA, LRRK2, VPS35, PARK2, PINK1, PARK7, ATP13A2, PLA2G6, FBXO7, DNAJC6

Source: Centogene

Periodic Palsy

Multi Gene Panel (6 Genes)
Targeted genes: CACNA1S KCNE3 KCNJ12 KCNJ2 RYR1 SCN4A
Source: Medical Genetics Center

Polymicrogyria

Multi Gene Panel (17 Genes)
Targeted genes: CHD7 EOMES FH GPR56 GPSM2 KIAA1279 KIF5C NDE1 NSDHL OCLN SRPX2 TUBA1A TUBA8 TUBB TUBB2B TUBB3 WDR62
Source: Medical Genetics Center

POLYMICROGYRIA SEQUENCING PANEL

Targeted Genes
GPR56 GPSM2 KIAA1279 NDE1 OCLN RAB18 RAB3GAP1 RAB3GAP2 RTTN TBC1D20 TUBA1A TUBA8 TUBB2B TUBB3 WDR62

Disorders
Polymicrogyria, Warburg Micro syndrome

Source: UCGS

Pontocerebellar Hypoplasia

Multi Gene Panel (8 Genes)
Targeted genes: EXOSC3 RARS2 SEPSECS TSEN2 TSEN34 TSEN54 VLDLR VRK1
Source: Medical Genetics Center

Pontocerebellar hypoplasia panel

Targeted genes: CASK, TSEN2, TSEN34, TSEN54, OPHN1, RARS2, VRK1, EXOSC3, CHMP1A

Source: Centogene

Pontocerebellar Hypoplasia Panel

Targeted genes: CASK, CHMP1A, CLP1, EXOSC3, OPHN1, RARS2, RELN, SEPSECS, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB2B, TUBB3, VLDLR, VPS53, VRK1

Source: GeneDx

SCA panel

Targeted genes: ATXN1, ATXN2, ATXN3, ATXN7, ATXN8, ATXN10, BEAN1, ATN1, CACNA1A, NOP56, PPP2R2B, TBP, AFG3L2, DNMT1, FGF14, IFRD1, ITPR1, KCNC3, KCND3, PDYN, PRKCG, SPTBN2, TGM6, TTBK2, VAMP1

Source: Centogene

Seckel syndrome panel

Targeted genes: ATR, RBBP8, CENPJ, CEP152, CEP63, ATRIP

Source: Centogene

SECKEL SYNDROME SEQUENCING PANEL

Targeted Genes
ATR CENPJ CEP152 CEP63 NIN PCNT RBBP8

Disorders
Microcephalic Osteodysplastic Primordial Dwarfism type II, Seckel Syndrome, Primordial dwarfism

Source: UCGS

Spastic paraplegia panel, autosomal dominant

Targeted genes: ATL1, BSCL2, HSPD1, KIAA0196, KIF5A, NIPA1, REEP1, RTN2, SLC33A1, SPAST, ZFYVE27

Source: Centogene

Spastic paraplegia panel, autosomal recessive

Targeted genes: AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ARSI, B4GALNT1, C12orf65, C19orf12, CCT5, CYP2U1, CYP7B1, DDHD1, DDHD2, ENTPD1, ERLIN1, ERLIN2, FA2H, FLRT1, GBA2, GJC2, KIF1A, NT5C2, PLP1, PNPLA6, REEP2, SPG11, SPG20, SPG21, SPG7, TECPR2, TFG, USP8, VPS37A, WDR48, ZFR, ZFYVE26

Source: Centogene

Spinal Muscular Atrophy, Proximal Motor Neuropathy

Multi Gene Panel (14 Genes)
Targeted genes: BICD2 CLP1 DYNC1H1 HEXA IGHMBP2 LAS1L LMNA MFN2 SETX SLC52A2 SLC52A3 TFG TRPV4 VAPB
Source: Medical Genetics Center

Syndromic Macrocephaly/Overgrowth Panel

Targeted genes: CUL4B, EZH2, GLI3, GPC3, MED12, NFIX, NSD1, PHF6, PTCH1, PTEN, UPF3B

Source: GeneDx

TruSeq Targeted RNA Expression

The TruSeq Targeted RNA Expression Neurodegeneration Panel is a predesigned gene expression profiling solution for studying neurodegenerative and neurotoxic pathways such as those implicated in Alzheimer’s Disease. The panel includes assays targeting 77 genes involved in these pathways. All TruSeq Targeted RNA fixed panels are experimentally validated to ensure strong correlation with RNA sequencing.
Source: Illumina

Website

Uncomplicated Hereditary Spastic Paraplegia Panel

Targeted Genes: ATL1, CYP7B1, KIAA0196, KIF1A , KIF5A, NIPA1, REEP1 (C2ORF23), RTN2, SPAST, SPG11, SPG7

Disorders:
Hereditary Spastic Paraplegia
Uncomplicated Hereditary Spastic Paraplegias

Source: GeneDx

WARBURG MICRO SYNDROME SEQUENCING PANEL

Targeted Genes
RAB18 RAB3GAP1 RAB3GAP2 TBC1D20

Source: UCGS


NFKB

TruSeq Targeted RNA Expression NFKB Panel

The TruSeq Targeted RNA Expression NFKB Panel is a predesigned gene expression profiling solution for studying NFKB signaling. The panel includes assays targeting 105 genes involved in upstream and downstream signal transduction, as well as NFKB transcription factors and target genes. All TruSeq Targeted RNA fixed panels are experimentally validated to ensure strong correlation with RNA sequencing.
Source: Illumina

Website


Ophthalmics

Albinism

Targeted genes: C10orf11, GPR143, LYST, MC1R, MITF, MYO5A, OCA2, RAB27A, SLC24A5, SLC45A2, TYR, TYRP1

Source: CGC Genetics

Albinism panel

Targeted genes: C10ORF11, GPR143, LYST, MC1R, MITF, MYO5A, OCA2, RAB27A, SLC45A2, TYR, TYRP1

Source: Centogene

Albinism Sequencing Panel

Targeted Genes
AP3B1 BLOC1S3 BLOC1S6 C10ORF11 DNTBP1 GPR143 HPS1 HPS3 HPS4 HPS5 HPS6 LYST MLPH MYO5A OCA2 RAB27A SLC24A5 SLC45A2 TYPR1 TYR

Disorders
Albinism Oculocutaneous, albinism Ocular, albinism Hermansky, Pudlak syndrome, Chediak-Higashi syndrome, Griscelli syndrome

Source: UCGS

Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome

Multi Gene Panel (14 Genes)
ASPH B3GALTL COL4A1 COL4A2 CYP1B1 EYA1 FOXC1 FOXE3 LTBP2 MIR184 MYOC PAX6 PITX2 SLC38A8
Source: Medical Genetic Center

Autosomal Dominant Optic Atrophy – ADOA

Autosomal dominant optic atrophy (ADOA) is characterized by progressive bilateral blindness due to the loss of retinal ganglion cells and optic nerve deterioration. The severity of vision loss varies from nearly normal vision to complete blindness. The age of onset is usually between 4 and 6 years, but ADOA rarely causes severe vision impairment in childhood.
Source:Asper Biotech
Targeted genes: OPA1, OPA3, TMEM126A

Autosomal Dominant Retinitis Pigmentosa

Retinitis pigmentosa is an inherited retinal dystrophy caused by the loss of photoreceptors and characterized by retinal pigment deposits visible on fundus examination. Affected individuals first experience night blindness, followed by reduction of the peripheral visual field and, sometimes, loss of central vision late in the course of the disease which eventually leads to blindness after several decades. Signs and symptoms often first appear in childhood, but severe visual problems do not usually develop until early adulthood. In some cases, RP is characterized by cone-rod dystrophy, in which the decrease in visual acuity predominates over loss of the visual field. RP is usually nonsyndromic but there are also many syndromic forms. The main risk factor is a family history of retinitis pigmentosa.
Source: Asper Biotech
Targeted genes: AIPL1, BEST1, CA4, CRX, FSCN2, GUCA1B, IMPDH1, KLHL7, NR2E3, NRL, PRKCG, PRPF3, PRPF6, PRPF8, PRPF31, PRPH2, RDH12, RGR, RHO, ROM1, RP1, RP9, RPE65, SEMA4A, SNRNP200, TOPORS