DNA-diagnostics (a-z)
DNA-diagnostics
- Acyl-CoA oxidase deficiency (ACOX1)
- Adenine phosphoribosyl transferase deficiency (APRT)
- Adenosine deaminase deficiency (ADA)
- Adenosine deaminase 2 deficiency (ADA2)
- Alpha-methylacyl-CoA racemase deficiency (AMACR)
- Argininosuccinate lyase deficiency (argininosuccinic aciduria) (ASL)
- Aromatic L-amino acid decarboxylase deficiency (DDC)
- β-ketothiolase deficiency (ACAT1)
- Beta-ureidopropionase deficiency (UPB1)
- Brown-Vialetto-Van Laere syndrome 1 (SLC52A3)
- Brown-Vialetto-Van Laere syndrome 2 (SLC52A2)
- Brown-Vialetto-Van Laere syndrome 3 (SLC52A1)
- Carnitine deficiency, Primary (systemic) (SLC22A5 (OCTN2))
- Carnitine palmitoyltransferase I (CPT 1) deficiency (CPT1A)
- Carnitine palmitoyltransferase 2 (CPT 2) deficiency (CPT2)
- Carnitine-acylcarnitine translocase (CACT) deficiency (SLC25A20 (CACT))
- CHILD syndrome (NSDHL)
- Chitotriosidase deficiency (CHIT1)
- Conradi-Hunermann-Happle syndrome (CDPX2) (EBP)
- Cytosolic iron-sulfur assembly component 1 (CIAO1)
- D-bifunctional protein deficiency (HSD17B4 (MFE2))
- Desmosterolosis (Sterol-delta24 reductase deficiency) (DHCR24)
- Dihydropyrimidinase (DHP) deficiency (DPYS)
- Dihydropyrimidine dehydrogenase (DPD) deficiency (DPYD)
- Ethylmalonic encephalopathy (ETHE1)
- Fructose intolerance, hereditary (Aldolase B deficiency) (ALDOB)
- Galactokinase deficiency (GALK1)
- Galactosemia type 1 (Galactose-1-phosphate uridyltransferase deficiency) (GALT)
- Glutaric aciduria type I (Glutaryl-CoA dehydrogenase deficiency) (GCDH)
- Glutaric aciduria type II See: Multiple Acyl-CoA Dehydrogenase Deficiency
- Glycogen storage disease 0 (GYS2)
- Greenberg/HEM skeletal dysplasia (Sterol-delta14 reductase deficiency) (LBR)
- GTP cyclohydrolase I deficiency (GCH1)
- Holocarboxylase synthetase deficiency (HLCS)
- 3-Hydroxyisobutyryl-CoA hydrolase deficiency (HIBCH)
- 3-Hydroxyisobutyrate dehydrogenase deficiency (HIBADH)
- Hyper-IgD syndrome (Mevalonate kinase deficiency) (MVK)
- Hyperlysinemia (AASS)
- Hyperoxaluria type I, Primary (AGXT)
- Hyperoxaluria type II, Primary (GRHPR)
- Hyperoxaluria type III, Primary (HOGA1)
- Hypoxanthine-guanine phosphoribosyl transferase deficiency (HPRT1)
- Isovaleric academia (Isovaleryl CoA dehydrogenase deficiency) (IVD)
- Lathosterolosis (Sterol C5-desaturase deficiency) (SC5DL)
- Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (ACADM)
- 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency (HSD17B10 (HADH2))
- 3-Methylcrotonyl-CoA carboxylase 1 deficiency (MCCC1)
- 3-Methylcrotonyl-CoA carboxylase 2 deficiency (MCCC2)
- 3-methylglutaconic aciduria type I (3-methylglutaconyl-CoA hydratase deficiency) (AUH)
- Methylmalonyl-CoA epimerase deficiency (MCEE)
- Mevalonic aciduria (Mevalonate kinase deficiency) (MVK)
- Mitochondrial DNA depletion syndrome 2 (SUCLA2)
- Mitochondrial trifunctional protein (MTP) deficiency (HADHA, including LCHAD deficiency)
- Mitochondrial trifunctional protein (MTP) deficiency (HADHB)
- Monocarboxylate transporter member 1 (MCT1) deficiency (SLC16A1)
- Multiple acyl-CoA dehydrogenase deficiency (ETFA)
- Multiple acyl-CoA dehydrogenase deficiency (ETFB)
- Multiple acyl-CoA dehydrogenase deficiency (ETFDH)
- Neuraminidase deficiency (NEU1)
- Phosphoglycerate mutase deficiency, muscle (PGAM2)
- Phosphoribosyl pyrophosphate synthetase 1 superactivity and deficiency (PRPS1)
- Purine nucleoside phosphorylase deficiency (PNP)
- Refsum Disease (PEX7)
- Refsum Disease (PHYH)
- Rhabdomyolysis, acute recurrent (LPIN1)
- Rhizomelic chondrodysplasia punctata (RCDP) type 1 (PEX7 deficiency) (PEX7)
- Rhizomelic chondrodysplasia punctata (RCDP) type 2 (DHAPAT deficiency) (NGPAT/DHAPAT)
- Rhizomelic chondrodysplasia punctata (RCDP) type 3 (alkyl-DHAP synthase deficiency) (AGPS)
- Short-chain acyl-CoA dehydrogenase (SCAD) deficiency (ACADS)
- Short-chain enoyl-CoA hydratase/Crotonase deficiency (ECHS1)
- Sjögren-Larsson syndrome (ALDH3A2 (ALDH10))
- Smith-Lemli-Opitz Syndrome (DHCR7)
- Succinyl:CoA-3-oxoacid CoA transferase (SCOT) deficiency (OXCT1)
- Thymidine phosphorylase deficiency (TYMP)
- Tyrosine hydroxylase deficiency (TH)
- Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (ACADVL)
- X-linked adrenoleukodystrophy (ABCD1)
- Zellweger Spectrum (Complementation Testing)
- Zellweger Spectrum disorder (PEX1)
- Zellweger Spectrum disorder (PEX2)
- Zellweger Spectrum disorder (PEX3)
- Zellweger Spectrum disorder (PEX5)
- Zellweger Spectrum disorder (PEX6)
- Zellweger Spectrum disorder (PEX10)
- Zellweger Spectrum disorder (PEX11β)
- Zellweger Spectrum disorder (PEX12)
- Zellweger Spectrum disorder (PEX13)
- Zellweger Spectrum disorder (PEX14)
- Zellweger Spectrum disorder (PEX16)
- Zellweger Spectrum disorder (PEX19)
- Zellweger Spectrum disorder (PEX26)