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 NGS Panels for Testing of Inherited Metabolism Disorders


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Metabolism is the sum of physical and chemical processes within an organism that are necessary for the maintenance of life. Metabolism divides into catabolic processes that provide the system with energy and anabolic processes related to growth and repair.

There are numerous inherited metabolic disorders described that can be caused by single or multiple mutations in genes encoding certain enzymes. Mutations in these genes can lead to failure, dysfunction, or absence of these enzymes.

Some common types of inherited metabolic disorders are: lysosomal storage disorders, mitochondrial disorders, peroxisomal disorders, galactosemia, glycogen storage disorders, metal metabolism disorders, fatty acid oxidation disorders, lipid storage myopathy, diabetes including maturity-onset diabetes of the young (MODY), and maple syrup urine disease.

As inherited metabolic disorders are detectable after birth some can be detected by routine screening (for example phenylketonuria (PKU) or galactosemia). The advanced in molecular genetic methods including next generation sequencing (NGS) and the increasing knowledge about genetic factors of hereditary metabolic disorders help to improve screening, diagnosis, and the develop of new tools for screening including NGS targeted gene panels.

On this page a number of NGS targeted gene panels that are developed in order to screen for certain inherited metabolic disorders are introduced.

For more information about the targeted genes included in these panels please contact the individual panel provider. For more information on hereditary metabolic disorders we recommend the National Institutes of Health U.S. National Library of Medicine website for metabolic disorders.


ATP Metabolism - NGS Panels

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


Diabetes - NGS Panels

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


Glycogen Storage Disorder - NGS Panels

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


Hypercholesterolemia - NGS Panels

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


Lysosomal Disorders - NGS Panels

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


Other Metabolism Disorders - NGS Panels

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


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