Metabolic & Mitochondrial
Product NameApplicationRegion
P010-POLG Mitochondrial maintenance POLG 15q26.1; POLG2 17q23.3; TWNK (C10orf2) 10q24.31; SLC25A4 (ANT1) 4q35.1
P049-SLC6A8 - ABCD1 X-linked creatine deficiency syndrome; X-linked adrenoleukodystrophy (X-ALD); X-linked hydrocephalus Xq28 region; SLC6A8 Xq28; ABCD1 Xq28
P055-PAHCE;MA Phenylketonuria (PKU) PAH 12q23.2
P062-LDLRCE;IL Hypercholesterolemia, familial LDLR 19p13.2
P076-ACADVL-SLC22A5 Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCAD deficiency); Systemic primary carnitine deficiency (CDSP) ACADVL 17p13.1; SLC22A5 5q31.1
P079-OTC Ornithine transcarbamylase deficiency (OTC deficiency) OTC Xp11.4
P089-TK2 Mitochondrial DNA depletion syndromes TK2 16q21; MPV17 2p23.3; DGUOK 2p13.1; RRM2B 8q22.3; SUCLA2 13q14.2; SUCLG1 2p11.2
P098-Wilson disease Wilson disease ATP7B 13q14.3
P103-DPYD Dihydropyrimidine dehydrogenase (DPYD) deficiency DPYD 1p22
P104-Menkes ATP7A Menkes disease ATP7A Xq21.1
P107-Neurometabolic Neurometabolic disorders ASPA, MLC1, MLYCD, D2HGDH, L2HGDH
P120-PANK2/PLA2G6 Neurodegeneration with brain iron accumulation (NBIA) PANK2 20q13, PLA2G6 22q13
P125-Mitochondria Mitochondrial DNA (mtDNA) Mitochondria
P128-CYP450basic research Cytochrome P450 CYP2D6, CYP2C9, CYP2C19, CYP1B1, CYP3A4, CYP3A5, CYP2E1, CYP1A1, CYP1A2, CYP2A6, CYP2B6, GSTP1, GSTT1 and GSTM1
P138-SLC2A1-STXBP1CE GLUT1 deficiency syndrome; STXBP1 encephalopathy with epilepsy; Ohtahara syndrome SLC2A1 1p34.2; STXBP1 9q34.1
P156-GALT Classic galactosemia GALT 9p13
P159-GLACE Fabry disease GLA Xq22.1
P160-STS Steroid Sulfatase gene (STS) STS Xp22
P164-IDS Mucopolysaccharidosis type II, or Hunter syndrome IDS Xq28
P177-CASR Hypocalciuric hypercalcemia type 1, familial (HHC1) CASR 3q13-q21
P193-NPC1-NPC2-SMPD1 Niemann-Pick type C disease (NPC) NPC1 18q11.2; NPC2 14q24.3; SMPD1 11p15.4
P198-FH Fumarase deficiency (FH) FH 1q43
P199-HEXA Tay-Sachs disease HEXA 15q24.1
P203-PKLR Pyruvate kinase (PK) deficiency; Non-spherocytic hemolytic anaemia, hereditary PKLR 1q22
P209-Glycine Encephalopathy Glycine encephalopathy GLDC 9p24.1, AMT 3p21.31, GCSH 16q23.2
P218-LPL LPL deficiency LPL 8p21.3
P223-PHEX Hypophosphatemia, X-linked; Hypophosphatemic rickets, autosomal dominant (ADHR) PHEX Xp22.11; FGF23 12p13.32
P255-ALDOB-FBP1 Fructose intolerance, hereditary; Fructose-1,6-bisphosphatase deficiency ALDOB 9q31.1; FBP1 9q22.32
P278-PCCA-PCCB Propionic acidemia PCCA 13q32.3; PCCB 3q22.3
P283-TPMT Thiopurine S-methyltransferase (TPMT) deficiency TPMT 6p22.3
P305-AGXT Primary hyperoxaluria type 1 (PH1); Primary hyperoxaluria type 2 (PH2) AGXT2q37.3; GRHPR 9p13.2
P338-GBAbasic research Gaucher disease GBA 1q22
P344-SULT1A1 SULT1A1 copy number SULT1A1 16p11.2
P347-Hemochromatosis Hemochromatosis, hereditary (HH) HFE 6p22.2; SLC40A1 2q32.2; TFR2 7q22.1; HFE2 1q21.1; HAMP 19q13.12
P411-Porphyria mix 1 Porphyrias ALAD, HMBS, PPOX
P412-Porphyria mix 2 Porphyrias FECH, UROS, UROD, CPOX
P427-PDHA1 Leigh syndrome PDHA1 Xp22.12
P446-GALC Krabbe disease GALC 14q31.3
P447-HPRT1 Lesch-Nyhan syndrome HPRT1 Xq26.3
P453-GAA Pompe disease 17q25.3
P457-DHCR7 Smith–Lemli–Opitz syndrome (SLOS) DHCR7 11q13.4
P465-ACADM Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) ACADM 1p31.1
P473-CTNS (Nephropathic) Cystinosis 17p13.2
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