Product Name

Application

Region

P010-POLG

Mitochondrial maintenance

POLG, POLG2, TWNK (C10orf2; PEO1), SLC25A4 (ANT1)

P049-SLC6A8 - ABCD1

Creatine transporter, x-linked

SLC6A8, Xq28

P055-PAH CE

Phenylketonuria

PAH 12q23.2

P062-LDLR CE

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-CYP450

(basic 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-GBA

(basic 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