Metabolic Disorders NGS Panel

Introduction

We offer a next generation sequencing mutation scan, including an interpretation of variants found, of genes (please see below for a full list) focussing on inborn errors of metabolism that primarily affect the nervous system. The FULL metabolic panel contains 226 genes involved in 11 areas of clinical/biochemical indication (see Key below) divided into 6 sub-panels (see table below) based these groups of disorders.

Referral information

We offer mutation scanning in affected individuals and obligate carriers. This testing is relevant for sporadic cases or patients with a family history consistent with an autosomal dominant, recessive or X-linked family history of a metabolic disorder.  On identification of a pathogenic change in an index case presymptomatic and carrier testing of relatives of an index case can be offered. Referrals should be accompanied with a completed clinical proforma indicating which panels are required ( FULL or a combination of 1 or more sub panels) Referrals also should be accompanied by a completed standard referral request form. For optimal results please send a fresh EDTA blood sample (1-4ml) or a minimum of 3 microgrammes of extracted DNA.

Clinical Indication Genes analysed
LSD & NCL

 

AGA, ARSA, ARSB, ARSG, ASAH1, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, CTSD, CTSK, DNAJC5, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GM2A, GNE, GNPTAB, GNPTG, GNS, GUSB, HEXA, HEXB, HGSNAT, HYAL1, IDS, IDUA, LIPA, MAN2B1, MANBA, MCOLN1, MFSD8, NAGA, NAGLU, NEU1, NPC1, NPC2, PPT1, PSAP, SGSH, SLC17A5, SMPD1, SUMF1, TPP1
PER ABCD1, ACOX1, AGPS, AGXT, AMACR, CAT, DNM1L, GNPAT, HSD17B4, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH
CHO AGL, ALDOA, ENO3, EPM2A, FBP1, G6PC, G6PC3, GALE, GALK1, GALT, GBE1, GYG1, GYS1, GYS2, LAMP2, LDHA, NHLRC1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PRKAG2, PYGL, PYGM, SLC2A1, SLC2A2, SLC37A4
OA & VIT ABCD4, ACSF3, AMN, AUH, BCKDHA, BCKDHB, BTD, CD320, CUBN, DBT, DHFR, DHFRL1, DNAJC19, FOLR1, FOLR2, FOLR3, FTCD, GIF, HCFC1, HLCS, IVD, LMBRD1, MCCC1, MCCC2, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTHFD1, MTHFR, MTR, MTRR, MUT, OPA3, PCCA, PCCB, PPM1K, SERAC1, SLC19A3, SLC46A1, SLC52A1, SLC52A2, SLC52A3, SUCLA2, SUCLG1, TAZ, TCN1, TCN2, TMEM70
AA & NT ABAT, AHCY, ALDH18A1, ALDH5A1, ALDH7A1, AMT, ASPA, CBS, CTH, D2HGDH, DBH, DDC, FAH, GABRG2, GCDH, GCH1, GCSH, GLDC, GLRA1, GNMT, HGD, HPD, L2HGDH, MAOA, MAT1A, NAT8L, OAT, PAH, PCBD1, PNPO, PTS, QDPR, SLC25A22, SLC36A2, SLC3A1, SLC6A19, SLC6A3, SLC7A7, SLC7A9, SPR, SUOX, TAT, TH
AMN & FAOD & KET ACAD9, ACADM, ACADS, ACADVL, ACAT1, ACAT2, ARG1, ASL, ASS1, CPS1, CPT1A, CPT2, DECR1, ETFA, ETFB, ETFDH, GLUD1, HADHA, HADHB, HMGCL, HMGCS2, IVD, MMAA, MMAB, MMACHC, MMADHC, MUT, NAGS, OAT, OTC, OXCT1, PCCA, PCCB, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC7A7

Key:  AA Disorders of amino acid metabolism including phenylketonuria, and cerebral organic acid disorders; NT Disorders of neurotransmission; AMN Disorders associated with hyperammonaemia; FAOD Fatty acid oxidation defects;  KETDisorders of ketogenesis or ketolysis; OA Organic acidaemias, including disorders of branched chain amino acid catabolism, 3-methylglutaconic acidurias; VIT Folate and cobalamin defects, also riboflavin transport defects, and biotin-responsive disorders; CHO Disorders of carbohydrate metabolism; LSD Lysosomal disorders; NCL Neuronal ceroid lipofuscinoses; PERPeroxisomal biogenesis disorders and disorders of single peroxisomal enzymes

Price & reporting times

Please contact the lab for prices.

Test Price (£ ex VAT) TRT *
Metabolic Panel POA 112 cd

Test validation & quality assurance - information for users

A minimum 97% of target exons are covered at >50x read depth.

Sample requirements

4ml EDTA blood sample

Referral guidelines

Please see our referral guidelines for more information.

Gene(s) - ABAT, ABCD1, ABCD4, ACAD9, ACADM, ACADS, ACADVL, ACAT1, ACAT2, ACOX1, ACSF3, AGA, AGL, AGPS, AGXT, AHCY, ALDH18A1, ALDH5A1, ALDH7A1, ALDOA, AMACR, AMN, AMT, ARG1, ARSA, ARSB, ARSG, ASAH1, ASL, ASPA, ASS1, AUH, BCKDHA, BCKDHB, BTD, CAT, CBS, CD320, CLN3, CLN5, CLN6, CLN8, CPS1, CPT1A, CPT2, CTH, CTNS, CTSA, CTSD, CTSK, CUBN, D2HGDH, DBH, DBT, DDC, DECR1, DHFR, DHFRL1, DNAJC19, DNAJC5, DNM1L, ENO3, EPM2A, ETFA, ETFB, ETFDH, FAH, FBP1, FOLR1, FOLR2, FOLR3, FTCD, FUCA1, G6PC, G6PC3, GAA, GABRG2, GALC, GALE, GALK1, GALNS, GALT, GBA, GBE1, GCDH, GCH1, GCSH, GIF, GLA, GLB1, GLDC, GLRA1, GLUD1, GM2A, GNE, GNMT, GNPAT, GNPTAB, GNPTG, GNS, GUSB, GYG1, GYS1, GYS2, HADHA, HADHB, HCFC1, HEXA, HEXB, HGD, HGSNAT, HLCS, HMGCL, HMGCS2, HPD, HSD17B4, HYAL1, IDS, IDUA, IVD, L2HGDH, LAMP2, LDHA, LIPA, LMBRD1, MAN2B1, MANBA, MAOA, MAT1A, MCCC1, MCCC2, MCEE, MCOLN1, MFSD8, MMAA, MMAB, MMACHC, MMADHC, MTHFD1, MTHFR, MTR, MTRR, MUT, NAGA, NAGLU, NAGS, NAT8L, NEU1, NHLRC1, NPC1, NPC2, OAT, OPA3, OTC, OXCT1, PAH, PCBD1, PCCA, PCCB, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PHYH, PNPO, PPM1K, PPT1, PRKAG2, PSAP, PTS, PYGL, PYGM, QDPR, SERAC1, SGSH, SLC17A5, SLC19A3, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC25A22, SLC2A1, SLC2A2, SLC36A2, SLC37A4, SLC3A1, SLC46A1, SLC52A1, SLC52A2, SLC52A3, SLC6A19, SLC6A3, SLC7A7, SLC7A9, SMPD1, SPR, SUCLA2, SUCLG1, SUMF1, SUOX, TAT, TAZ, TCN1, TCN2, TH, TMEM70, TPP1.

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