Metabolic & Mitochondrial
Product NameApplicationRegion
P010-POLG Mitochondrial maintenance POLG, POLG2, TWNK (C10orf2; PEO1), SLC25A4 (ANT1)
P049-SLC6A8 - ABCD1 Creatine transporter, x-linked SLC6A8, Xq28
P055-PAHCE Phenylketonuria PAH 12q23.2
P062-LDLRCE Hypercholesterolemia, familial LDLR 19p13.2
P076-ACADVL-SLC22A5 VLCAD/Primary Carnitine ACADVL, SLC22A5
P079-OTC Ornithine transcarbamylase (OTC) OTC Xp11.4
P089-TK2 mtDNA depletion syndrome TK2, MPV17, DGUOK, RRM2B, SUCLA2, SUCLG1
P098-Wilson Wilson disease ATP7B 13q14.3
P103-DPYD Dihydropyrimidine dehydrogenase (DPYD) deficiency DPYD 1p22
P104-Menkes ATP7A Menkes disease ATP7A Xq13.3
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 P-450 CYP2D6, CYP2C9, CYP2C19, CYP1B1, CYP3A4, CYP3A5, CYP2E1, CYP1A1, CYP1A2, CYP2A6, CYP2B6, GSTP1, GSTT1 and GSTM1
P138-SLC2A1-STXBP1 Glut1 deficiency syndrome SLC2A1, STXBP1
P156-GALT Classic galactosemia GALT 9p13
P159-GLA Fabry Disease GLA Xq22
P160-STS Steroid Sulfatase gene (STS) STS Xp22
P164-IDS Mucopolysaccharidosis type II, or Hunter syndrome IDS Xq28
P177-CASR Hypocalciuric Hypercalcemia, familial CASR 3q13
P193-NPC1-NPC2-SMPD1 Niemann-Pick type C disease (NPC) NPC1, NPC2
P198-FH Fumarase deficiency (FH) FH
P199-HEXA Tay-Sachs Disease HEXA 15q23
P203-PKLR Haemolytic Anaemia, hereditary non-spherocytic PKLR 1q22
P209-Glycine Encephalopathy Glycine encephalopathy GLDC 9p22
P218-LPL LPL deficiency LPL 8p21.3
P223-PHEX Hypophosphatemia, x-linked PHEX Xp22.2, FGF23 12p13
P255-ALDOB-FBP1 Fructose intolerance ALDOB FBP1 9q21
P278-PCCA Propionic acidemia PCCA 13q32
P283-TPMT Thiopurine S-methyltransferase (TPMT; S-adenosyl-L-methionine:thiopurine S-methyltransferase) TPMT 6p22
P305-AGXT Primary hyperoxaluria, type 1 (PH1) & type 2 (PH2) AGXT, GRHPR
P338-GBAbasic research Gaucher disease GBA 1q22
P344-SULT1A1 SULT1A1 copy number 16p11.2
P347-Hemochromatosis Hereditary hemochromatosis (HH) HFE, SLC40A1, TFR2, HFE2, HAMP
P411-Porphyria mix 1 Porphyrias ALAD, HMBS, PPOX
P412-Porphyria mix 2 Porphyrias FECH, UROS, UROD, CPOX
P427-PDHA1 Leigh Syndrome X-chromosome
P446-GALC Krabbe Disease 14q31.3
P447-HPRT1 Lesch-Nyhan syndrome Xq26.1
P453-GAA Pompe Disease 17q25.3
P457-DHCR7 Smith–Lemli–Opitz syndrome 11q13
P465-ACADM Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency 01p31.1
P473-CTNS (Nephropathic) Cystinosis 17p13.2
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