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.
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.
4ml EDTA blood sample
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.