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NGS Targeted Gene Panels for Testing other Genetic Disorders 


General Genetic Testing | Cardiology Genetics | Epilepsy Genetics | Hematology | Mental Health & Neurogenetics | Metabolism | Mitochondrial Genetics | Muscle Genetics | Ophthalmics | Reprogenetics |Respiratory System | More Genetic Disorder Testing


The human genome encodes more than 20.000 genes. Some genes encode numerous genetic variants that can be related to different genetic disorders. Thus the total number of possible genetic disorders is tremendous.

On this website a list of NGS targeted gene panels is introduced that are recommended for the screening and diagnosis of other genetic disorders and syndromes, including rare and less common disorders, that are not listed in one of the other categories, for example : autism, the immune system, the liver, otogenetics, the skin, different signaling pathways such as the Wnt, the Ras/MAPK (Noonan Syndrome), NFKB, p53 signaling, and the apoptosis pathway.

For more information on the targeted genes in the individual panels please contact the corresponding provider.

For general information on genetic disorders we recommend the Genetic and Rare Diseases Information Center GARD website. 


Amelogenesis Imperfecta - NGS Panels

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 - NGS Panels

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


Autism - NGS Panels

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 Disorders - NGS Panels

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


Cell Cycle Disorders- NGS Panels

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 - NGS Panels

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 - NGS Panels

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 Disorders- NGS Panels

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 Disorders - NGS Panels

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 - NGS Panels

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


Cytochrome p450 Disorder - NGS Panels

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


Developmental and Malformation Disorders - NGS Panels

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


Endocrinology - NGS Panels

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


Epiphyseal Dysplasia - NGS Panels

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


Gastrointestinal Tract Disorders - NGS Panels

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


Hedgehog Signal Transduction - NGS Panels

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


Hermansky-Pudlak Syndrome - NGS Panels

Hermansky-Pudlak Syndrome NGS Panel

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


Heterotaxy and Situs Inversus - NGS Panels

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


Hypotonia - NGS Panels

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 - NGS Panels

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


Joubert and Meckel-Gruber Syndrome - NGS Panels

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 - NGS Panels

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 - NGS Panels

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 - NGS Panels

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


Marfan Syndrome - NGS Panels

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 - NGS Panels

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 - NGS Panels

Meier-Gorlin Syndrome NGS Panel

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


NFKB - NGS Panels

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

 


Otogenetics - NGS Panels

Asper Otogenetics

Asper Otogenetics includes extensive list of genetic tests directed to the diagnostics of both non-syndromic and syndromic form of hearing loss and deafness.
Since accurate determination of the genetic diagnosis is complicated due to high genetic heterogeneity and phenotypic overlap, we have developed multi-gene screening panels for the detection of genetic causes of hereditary hearing loss.
Single-gene screening for GJB2 gene related disorders, Pendred Syndrome, and other forms of syndromic hearing loss is also available.
Differential diagnosis from different forms of hearing loss and deafness enables accurate genetic counseling and recurrence risk calculation, ensuring personalized care to the patients and their family members.
Source: Asper Biotech

Website

Deafness, non-syndromic sensorineural autosomal dominant panel

Targeted genes: ACTG1, CCDC50, COCH, COL11A2, CRYM, DFNA5, DIABLO, DIAPH1, DIAPH3, EYA4, GJB2, GJB3, GJB6, GRHL2, KCNQ4, MIR96, MYH14, MYH9, MYO1A, MYO6, MYO7A, POU3F4, POU4F3, PRPS1, SIX1, SLC17A8, SMPX, TECTA, TJP2, TMC1, WFS1

Source: Centogene

Deafness, non-syndromic sensorineural autosomal recessive panel

Targeted genes: CDH23, CLDN14, COL11A2, DFNB31, DFNB59, ESPN, ESRRB, FOXI1, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRXCR1, HGF, ILDR1, KCNJ10, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MSRB3, MYO15A, MYO3A, MYO6, MYO7A, OTOA, OTOF, PCDH15, POU3F4, PRPS1, PTPRQ, RDX, SERPINB6, SLC12A1, SLC26A4, SLC26A5, SMPX, STRC, TECTA, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, USH1C

Source: Centogene

Expanded Hearing Loss Panel

Expanded Hearing Loss Panel, Sequencing (56 Genes) and Deletion/Duplication (53 Genes)
Most comprehensive genetic test for nonsyndromic and syndromic hearing loss. May be ordered as first-tier genetic test for hearing loss, or after GJB2, GJB6, and mitochondrial mutation testing has been performed.
Source: Arup Laboratories

Hearing Loss NGS Panel

Targeted Genes: (103) ACTB, ACTG1, ADGRV1, ATP2B2, ATP6V1B1, BCS1L, BSND, CATSPER2, CCDC50, CDH23, CLDN14, CLRN1, COCH, COL11A2, COL9A3, CRYM, DFNA5, DFNB31, DFNB59, DIAPH1, DSPP, EDN3, EDNRB, ERCC2, ERCC3, ESPN, ESRRB, EYA1, EYA4, FGF3, FOXI1, GATA3, GIPC3, GJA1, GJB2, GJB3, GJB6, GPSM2, GRHL2, GRXCR1, GSTP1, HGF, ILDR1, JAG1, KCNE1, KCNJ10, KCNQ1, KCNQ4, LHFPL5, LHX3, LOXHD1, LRTOMT, MARVELD2, MIR96, MITF, MSRB3, MTAP, MYH14, MYH9, MYO15A, MYO1A, MYO1C, MYO1F, MYO3A, MYO6, MYO7A, OTOA, OTOF, PAX3, PCDH15, PDZD7, PMP22, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, SERPINB6, SIX1, SLC17A8, SLC26A4, SLC26A5, SLC4A11, SMPX, SNAI2, SOX10, SPINK5, TBL1X, TCF21, TECTA, TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TMPRSS5, TPRN, TRIOBP, TRMU, USH1C, USH1G, USH2A, WFS1
Source: Fulgent Diagnostics

Hearing Loss Panel

Next generation sequencing using Illumina NextSeq 500 technology of the 121 hearing loss-associated genes:
ABHD12, ABHD5, ACTG1, ANKH, ARSB, ATP6V1B1, BSND, BTD, CACNA1D, CCDC50, CDH23, CDKN1C, CEACAM16, CHD7, CIB2, CISD2, CLDN14, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, CRYM, DFNA5, DFNB31, DFNB59, DIABLO, DIAPH1, DIAPH3, DLX5, DNMT1, DSPP, EDN3, EDNRB, ESPN, ESRRB, EYA1, EYA4, FGF3, FGFR3, FOXC1, FOXI1, GATA3, GIPC3, GJB2, GJB3, GJB6, GPR98, GPSM2, GRHL2, GRXCR1, HARS2, HGF, HSD17B4, ILDR1, KCNE1, KCNJ10, KCNQ1, KCNQ4, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MASP1, MIR96, MITF, MSRB3, MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6, MYO7A, NDP, NLRP3, OTOA, OTOF, PAX3, PCDH15, PDZD7, PITX2, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, RPS6KA3, SALL1, SALL4, SEMA3E, SERPINB6, SIX1, SIX5, SLC17A8, SLC19A2, SLC26A4, SLC26A5, SLC29A3, SMPX, SNAI2, SOX10, STRC, TCOF1, TECTA, TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, USH1C, USH1G, USH2A, WFS1
Source: Knight Diagnostic Laboratories

Non syndromic deafness AD (NGS panel)

Targeted genes (32): TNC, TMC2, TMC1, TJP2, TECTA, SLC17A8, SIX1, POU4F3, MYO7A, MYO6, MYO1A, MYH9, MYH14, MIR96, KCNQ4, GRHL2, GJB6, GJB3, GJB2, EYA4, DSPP, DIAPH3, DIAPH1, DIABLO, DFNA5, CRYM, COL11A2, COCH, CEACAM16, CCDC50, ACTG1, WFS1

Source: CGC Genetics

Non syndromic deafness AD, AR and XL (NGS panel)

Targeted genes (79): ACTG1, CABP2, CCDC50, CDH23, CEACAM16, CIB2, CLDN14, CLIC5, COCH, COL11A2, COL4A6, CRYM, DFNA5, DFNB31, DFNB59, DIABLO, DIAPH1, DIAPH3, DSPP, ESPN, ESRRB, EYA4, FOXI1, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRHL2, GRXCR1, HGF, ILDR1, KCNJ10, KCNQ4, LHFPL5,KARS, LOXHD1, LRTOMT, MARVELD2, MIR96, MSRB3, MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6, MYO7A, OTOA, OTOF, OTOG, OTOGL, PCDH15, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, SERPINB6, SIX1, SLC12A1, SLC17A8, SLC26A4, SLC26A5, SLITRK6, SMPX, STRC, TECTA, TJP2, TMC1, TMC2, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TSPEAR, USH1C, WFS1

Source: CGC Genetics

Non syndromic deafness AR and XL (NGS panel)

Targeted genes (55): USH1C, OTOGL, OTOG, OTOF, OTOA, MYO7A, MYO3A, MYO15A, MSRB3, MARVELD2, LRTOMT, LOXHD1, LHFPL5, KARS, ILDR1, HGF, GPSM2, GJB6, GJB3, GJB2, GIPC3, FOXI1, ESPN, DFNB59, COL4A6, CLIC5, CLDN14, CIB2, CDH23, CABP2, TPRN, MYO6, KCNJ10, GRXCR1, ESRRB, COL11A2, PCDH15, DFNB31, POU3F4, PRPS1, PTPRQ, RDX, SERPINB6, SLC12A1, SLC26A4, SLC26A5, SLITRK6, SMPX, STRC, TECTA, TMC1, TMC2, TMIE, TMPRSS3, TRIOBP, TSPEAR

Source: CGC Genetics

Syndromic and non syndromic deafness (NGS panel)

Targeted genes (127): ESRRB, KCNE1, KARS, ILDR1,HOXB1, HGF, GRHL2, DFNB59, DFNB31, DFNA5, CRYM, COL9A3, NDP, COL9A2, MYO7A, COL9A1, MYO6, COL4A6, MYO3A, MYO1A, COL4A5, MYO15A, COL4A4, COL4A3, COL2A1, COL11A2, MYH9, COL11A1, COCH, CLRN1, MYH14, CLIC5, MSRB3, CLDN14, MITF, CIB2, MIR96, CHSY1, CHD7, CEACAM16, MARVELD2,CDKN1C, MANBA, LRTOMT, LOXHD1, LHFPL5, CDH23, CD151, KCNQ4, KCNQ1, KCNJ10, CCDC50, CACNA1D, CABP2, BSND, ATP6V1B1, ANKH, ALMS1, ACTG1, ABHD12, TPRN, GRXCR1, DIABLO, NLRP3, OTOA, DIAPH1, OTOF, DIAPH3, DLX5, DSPP, OTOG, EDN3, OTOGL, EDNRB, ESPN, EYA1, EYA4, PAX3, FGF3, FOXI1, PCDH15, PDZD7, GATA3, POLR1C, GIPC3, POLR1D, GJB2, GJB3, POU3F4, GJB6, GPR98, GPSM2, POU4F3, PRPS1, PTPRQ, RDX, SEMA3E, SERPINB6, SIX1, SIX5, SLC12A1, SLC17A8, SLC19A2, SLC26A4, SLC26A5, SLITRK6, SMPX, SNAI2, SOX10, STRC, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMC1, TMC2, TMIE, TMPRSS3, TNC, TRIOBP, TSPEAR, TYR, USH1C, USH1G, USH2A, WFS1

Source: CGC Genetics

Syndromic deafness (NGS panel)

Targeted genes (62): ABHD12, WFS1, USH2A, USH1G, USH1C, TYR, TIMM8A,TFAP2A, TCOF1, SOX10, SNAI2, SLITRK6, SLC26A4, SLC19A2, SIX5, SIX1, SEMA3E, POLR1D, POLR1C, PDZD7, PCDH15, PAX3, NLRP3, NDP, MYO7A, MITF, MANBA, KCNQ1, KCNJ10, KCNE1, HOXB1, GPR98, GATA3, FOXI1, FGF3, EYA1, EDNRB, EDN3, DLX5, DFNB31, COL9A3, COL9A2, COL9A1, COL4A6, COL4A5, COL4A4, COL4A3, COL2A1, COL11A2, COL11A1, CLRN1, CIB2, CHSY1, CHD7, CDKN1C, CDH23, CD151, CACNA1D, BSND, ATP6V1B1, ANKH, ALMS1

Source: CGC Genetics

 


p53 - NGS Panels

TruSeq Targeted RNA Expression p53 Panel

The TruSeq Targeted RNA Expression p53 Panel is a predesigned gene expression profiling solution for studying p53 signaling. The panel includes assays targeting 52 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


Pain Medication - NGS Panels

Migraine NGS Panel

Targeted Genes: ALDH7A1, ARX, ATP1A2, CACNA1A, CDKL5, FOLR1, FOXG1, GAMT, KCNQ2, MECP2, PCDH19, PHGDH, PNPO, POLG, PPT1, SCN1A, SLC2A1, STXBP1
Source: Fulgent Diagnostics

Pain Medication DNA InsightTM

Pain Medication DNA InsightTM identifies genetic variants that affect how an individual will respond to the analgesic effects of certain types of commonly prescribed pain medications. Personalized medication management is essential in identifying the right drug and dosage for a patient. Many clinical factors influence and alter a patient’s response to drugs, including age, weight, general health and personal genetics.
Source: Pathway

Website


PED - NGS Panels

PED MASTR Plus

The PED MASTR Plus is a molecular assay (research use only) for the identification of all mutations in 51 genes (listed under the specifications tab) underlying PED. Multiplicom’s PED MASTR Plus 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 952 amplicons (300-440 bp) in 11 PCR reactions are included, for complete coverage of all coding sequences.
Source: Multiplicom

Website


Pharmacogenomics - NGS Panels

iGene Pharmacogenomics Panel

Pharmacogenetics is the study how one’s genetic makeup affects one’s drug interaction and metabolism. A pharmacogenetic test can predict how efficiently a patient can metabolize a drug, allowing clinicians to adjust dosages for the patient in order to achieve maximal efficacy from a drug with minimal side effects.
Genotyping analyses for the following category of drugs: beta-blockers, Clopidogrel, Fluorouracil, Irinotecan, Succinylcholine, Warfarin, Statins, Simvastatin, Thiopurines, Floxacillin, Carbamazepine, Aminoglycoside, Factor V Leiden, and Folic Acid Metabolism Disorder.
Targeted genes: CYP2C19, DPYD, UGT1A1, BCHE, CYP2C9, VKORC1, CYP4F2, APOE, SLCO1B1, TPMT, HLA-B, F5, GRK5, MTRNR1, and MTHFR
Source: ApolloGen

Med Incode

"Classifies the most effective medications and dosages for your employees based on their genetic profile in order to minimize adverse reactions."

Source: Selah Genomics


Ras/MAPK Pathway (Noonan Syndrome) - NGS Panels

Invitae Noonan Syndrome Panel

The Invitae Noonan Syndrome Panel analyzes up to 13 genes that are associated with Noonan syndrome (NS). NS 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.
Noonan syndrome is characterized by distinctive facial features, short stature, congenital heart defects (pulmonary valve stenosis), chest deformities, and coagulation and lymphatic deficiencies; however, the RASopathies have several overlapping phenotypic features due to their common underlying Ras/MAPK pathway dysregulation.
Source: Invitae

Invitae RASopathies Comprehensive Panel

The Invitae RASopathies Comprehensive Panel analyzes 16 genes that are members of the mitogen-activated protein kinase (Ras/MAPK) pathway, which is associated with a class of pediatric disorders termed “RASopathies” (also known as Noonan Spectrum Disorders).
Source: Invitae

Noonan and RASopathies Panel

Targeted genes: ACTB, ACTG1, BRAF, CBL, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SPRED1

Disorders:
Baraitser-Winter Syndrome
Cardio-Facio-Cutaneous Syndrome
Costello Syndrome
LEOPARD Syndrome
Noonan Syndrome
Noonan-Like Syndrome

Source: GeneDx

Noonan - CFC syndrome panel

Targeted genes; BRAF, CBL, HRAS, MAP2K1, KRAS, MAP2K2, NF1, NRAS, RAF1, PTPN11, SHOC2, SOS1, SPRED1

Source: Centogene

Noonan Syndrome

Multi Gene Panel (9 Genes)
Targeted genes: CBL KRAS NRAS PTPN11 RAF1 RASA2 RRAS SHOC2 SOS1
Source: Medical Genetics Center

Noonan Syndrome

Noonan syndrome is an autosomal dominantly inherited disease characterized by short stature, congenital heart defect and delayed mental development of varying degree. Patients with Noonan syndrome also have a characteristic appearance: short neck, cervical skin fold, low set ears, hypertelorism. Additionally lymphatic system dysplasia may occur, which is the basis of cystic hygroma and occipital fold enlargement in the fetus.
Source: Asper Biotech
Targeted genes: BRAF, CBL, HRAS, KAT6B, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, SHOC2, SOS1, SPRED1

Noonan syndrome (NGS panel)

Targeted genes: PTPN11, SOS1, KRAS, NRAS, RAF1

Source: CGC Genetics

Noonan syndrome and rasopathies

Targeted genes: BRAF, CBL, HRAS, MAP2K1, KRAS, MAP2K2, NF1, NRAS, RAF1, PTPN11, SHOC2, SOS1, SPRED1

Source: CGC Genetics

Noonan Syndrome NGS Panel

Targeted Genes: BRAF, CBL, HRAS, KAT6B, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, SHOC2, SOS1
Source: Fulgent Diagnostics

Prenatal Noonan Spectrum Disorders Panel

Targeted genes: BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1

Disorders:
Cardio-Facio-Cutaneous Syndrome
Costello Syndrome
Noonan Syndrome

Source: GeneDx


Skin - NGS Panels

Albinism NGS Panel

Targeted Genes: GPR143, LYST, MC1R, MITF, MYO5A, OCA2, RAB27A, SLC45A2, TYR, TYRP1
Source: Fulgent Diagnostics

Congenital ichthyosis panel

Targeted genes: ALOX12B, ABCA12, ALOXE3, CERS3, CYP4F22, LIPN, NIPAL4, PNPLA1, TGM1

Source: Centogene

Cutis laxa panel

Targeted genes: ALDH18A1, ATP6V0A2, ATP7A, EFEMP2, ELN, FBLN5, LTBP4, PYCR1

Source: Centogene

Dyskeratosis congenita (NGS panel)

Targeted genes: DKC1, NHP2, NOP10, RTEL1, TERC, TERT, TINF2, WRAP53

Source: CGC Genetics

Dyskeratosis Congenita NGS Panel

Targeted Genes: CTC1, DKC1, NHP2, NOP10, TERC, TERT, TINF2, WRAP53
Source: Fulgent Diagnostics

Epidermolysis bullosa

Targeted genes: COL17A1, COL7A1, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, KRT1, KRT10, KRT14, KRT5, LAMA3 , LAMB3, LAMC2, MMP1, PLEC

Source: CGC Genetics

Epidermolysis bullosa junctional (NGS panel)

Targeted genes: LAMB3, COL17A1, LAMC2, LAMA3, ITGA6

Source: CGC Genetics

Epidermolysis Bullosa NGS Panel

Targeted Genes: CD151, COL17A1, COL7A1, DSP, ITGA3, ITGB4, KRT14, KRT5, LAMA3, LAMB3, LAMC2, MMP1, PLEC
Source: Fulgent Diagnostics

Epidermolysis bullosa panel

Targeted genes: COL17A1, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KRT5, KRT14, LAMA3, LAMB3, LAMC2, PKP1, PLEC, TGM5

Source: Centogene

Epidermolysis bullosa simplex (NGS panel)

Targeted genes: KRT5, KRT14, DST, PLEC

Source: CGC Genetics

Ichthyosis extended panel

Targeted genes: ABCA12, ALOX12B, ALOXE3, AP1S1, CERS3, CLDN1, CYP4F22, EBP, ERCC2, ERCC3, FLG, GJB2, GJB3, GJB4, GTF2H5, KRT1, KRT10, KRT2, LIPN, LOR, MPLKIP, NIPAL4, PEX7, PHYH, PNPLA1, POMP, SLC27A4, SNAP29, SPINK5, ST14, STS, SUMF1, TGM1, TGM5

Source: Centogene

Waardenburg syndrome panel

Targeted genes: EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR

Source: Centogene


Somatic Testing - NGS Panels

Schimmelpenning-Feuerstein-Mims (Epidermal Nevus Syndrome) Gene Set

Targeted genes: HRAS, KRAS, NRAS
Source: WUSTL

Somatic Overgrowth Gene Set

Targeted genes: AKT1, AKT2, AKT3, GNAQ, MTOR, PIK3CA, PIK3R2, PTEN, RASA1, TSC1, TSC2
Source: WUSTL


Stam Cell Genetics - NGS Panels

TruSeq Targeted RNA Expression Stem Cell Panel

The TruSeq Targeted RNA Expression Stem Cell Panel is a predesigned gene expression profiling solution for studying induction, differentiation and maintenance of a variety of stem cell types. The panel consists of assays targeting 100 genes, including stem cell markers, differentiation markers, pluripotency markers, cytokines and growth factors. All TruSeq Targeted RNA fixed panels are experimentally validated to ensure strong correlation with RNA sequencing.
Source: Illumina

Website


Trichothiodystrophy - NGS Panel

Trichothiodystrophy (NGS panel)

Targeted genes: ERCC3, GTF2H5, MPLKIP, ERCC2, RNF113A

Source: CGC Genetics

"Trichothiodystrophy (TTD) is an autosomal recessive inherited disorder characterised by brittle hair and intellectual impairment."


Wellness, Weight, Sport & Nutrition - NGS Panels

Asper Wellness

Asper Wellness includes genetic tests for determining food intolerance, athletic performance, and also tests related to nutrition and other areas of wellness.
Our aim is to translate genetic information into clear answers and, thereby, help people make informed decisions based on their genetic prepositions and risks.
Source: Asper Biotech

Website

Diabetes-Obesity NGS Panel

Targeted Genes: (56) ABCC8, ADRB2, ADRB3, AGRP, ALMS1, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BDNF, CARTPT, CEL, CEP290, EIF2AK3, ENPP1, FOXP3, GCK, GHRL, GLIS3, GNAS, HNF1A, HNF1B, HNF4A, INS, KCNJ11, LEP, LEPR, MAGEL2, MC4R, MKKS, MKS1, NEUROD1, NEUROG3, NTRK2, PCSK1, PDX1, POMC, PPARG, PPARGC1B, PTF1A, PYY, RFX6, SDC3, SDCCAG8, SIM1, TRIM32, TTC8, UCP1, UCP3, WDPCP, WFS1
Source: Fulgent Diagnostics

Healthy Weight DNA Insight®

Healthy Weight DNA Insight® is one of the most comprehensive weight-related genetic tests available, offering a unique combination of nutrigenetic, medication and general health information that enables physicians to make patient-specific recommendations on issues in order to help achieve or maintain a healthy weight.
Source: Pathway Genomics

Healthy Woman DNA Insight®

Healthy Woman DNA Insight® tests a variety of genes that influence response to diet, metabolism, and exercise, as well as the propensity to develop certain health conditions and likely response to specific medications.
Source: Pathway Genomics

MONOGENIC OBESITY SEQUENCING PANEL

Targeted Genes
ALMS1 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 CEP290 CUL4B DYRK1B GNAS LEP LEPR MAGEL2 MC4R MKKS MKS1 NR0B2 NTRK2 PCSK1 PHF6 POMC SDCCAG8 SIM1 TRIM32 TTC8 UCP3 VPS13B WDPCP

Disorders
Monogenic obesity
Obesity

Source: UCGS

Nutri Incode

Determines the most effective weight management program for your employees by tailoring diet and exercise recommendations to their genetic profile.
For treatment of obesity and overweight based on analysis of 88 genes.

Source: Saleh Genomics

PathwayFit®

PathwayFit® analyzes over 75 genetic markers known to be associated with diet, exercise, and a number of health conditions. Ordering PathwayFit® today will provide you with information about your unique genetic profile, personalized meal plans, and access to a Registered Dietitian – empowering you with the necessary tools and knowledge to live a healthier lifestyle.
Source: Pathway Genomics


Wnt Signaling - NGS Panel

TruSeq Targeted RNA Expression Wnt Panel

The TruSeq Targeted RNA Expression Wnt Panel is a predesigned gene expression profiling solution for studying Wnt signaling. The panel includes assays targeting 93 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


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