Genes (a-z)

Name Gene OMIM Price whole gene analysis
Acyl-CoA oxidase deficiency ACOX1 264470 1
Acyl-CoA synthetase family, member 3 deficiency ACSF3 614265 1
Adenine phosphoribosyl transferase deficiency APRT 102600 2
Adenosine deaminase 2 deficiency ADA2/CECR1 607575 1
Adenosine deaminasadae deficiency ADA 102700 1
Adenosine kinase deficiency ADK 614300 1
Adenylosuccinate lyase deficiency ADSL 103050 1
Alanyl-tRNA synthetase AARS 601065 1
Alanyl-tRNA synthetase 2 AARS2 612035 1
Alexander disease GFAP 203450 1
Alkaline phospatase, liver deficiency ALPL 146300241500241510 1
a-methylacyl-CoA racemase deficiency AMACR 604489 2
Aminoacyl-tRNA synthetase complex-interactive multifunctional protein 1 AIMP1 603605 2
Aminoacyl-tRNA synthetase complex-interactive multifunctional protein 2 AIMP2 600859 2
Arginine:glycine amidinotransferase deficiency AGAT/ GATM 612718 2
Argininosuccinate lyase ASL 207900 1
Arginyl-tRNA synthetase RARS 107820 1
Arginyl-tRNA synthetase 2 RARS2 611524 1
Aromatic amino acid decarboxylase deficiency DDC 608643 2
Arylsulfatase A deficiency ARSA 250100 2
Asparaginyl-tRNA synthetase NARS 108410 1
Asparaginyl-tRNA synthetase 2 NARS2 612803 1
Aspartyl-tRNA synthetase 2 deficiency / Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation "LBSL DARS2 611105 1
Aspartyl-tRNA synthetase deficiency / Hypomyelinisation with brainstem and spinal cord involvement and leg spasticity "HBSL" DARS 615281 1
B-Cell receptor associated protein 31 deficiency BCAP31 300398 2
BolA family member 3 deficiency BOLA3 614299 2
Brown-Vialetto-Van Laere syndrome, type 1 SLC52A3 211530 2
Brown-Vialetto-Van Laere syndrome, type 2 SLC52A2 614707 2
Brown-Vialetto-Van Laere syndrome, type 3 SLC52A1 607883 2
Canavan disease ASPA 271900 2
Carbamylphosphate synthase 1 deficiency CPS1 237300 1
Carbonic anhydrase VA deficiency CA5A 2
Carnitine deficiency, primary SLC22A5 / OCTN2 212140 2
Carnitine palmitoyltransferase 1 deficiency CPT1A 255120 1
Carnitine palmitoyltransferase 2 deficiency CPT2 600649 2
Carnitine-acylcarnitine translocase deficiency SLC25A20 / CACT 212138 2
Ceruloplasmine deficiency/ ferroxidase CP 604290 1
CHILD syndrome NSDHL 308050 2
Chitotriosidase deficiency c.1049_1072dup CHIT1 614122 2
Citrullinemia, type 1 ASS1 215700 1
Citrullinemia, type 2 SLC25A13 603471 1
Collectrin/ Transmembrane protein 27 TMEM27 1
Complementation analysis (PEX gene unknown; skin fibroblasts required) 214100 1
Congenital disorder of glycosylation, type II h, CDG IIh COG8 611182 2
Conradi-Hünermann-Happle syndrome/CDPX2 EBP 302960 2
Creatine transporter defect, X-linked SLC6A8 300352 1
Cystathionine beta-synthase deficiency CBS 236200 1
Cysteinyl-tRNA synthetase CARS 123859 1
Cysteinyl-tRNA synthetase 2 CARS2 612800 1
Cytosolic iron-sulfur assembly component CIAO1 604333 1
D-Bifunctional protein deficiency HSD17B4/DBP/MFE2 261515 1
Dentin matrix acidic phosphoprotein 1 deficiency DMP1 600980 2
Desmosterolosis DHCR24 602398 2
Dihydrofolate reductase deficiency DHFR 613839 2
Dihydrolipoamide dehydrogenase deficiency (MSUD type III) DLD 246900 1
Dihydropyrimidinase deficiency DPYS 222748 2
Dihydropyrimidine dehydrogenase deficiency DPYD 274270 1
D-tyrosyl-tRNA deacylase DTD1 610996 1
Ectonucleotide pyrophosphatase/phosphodiesterase 1 deficiency ENPP1 173335 1
Ethylmalonic aciduria (Ethylmalonic encephalopathy) ETHE1 602473 2
Eukaryotic translation elongation factor epsilon EEF1E1 609206 1
Folate malabsorption, hereditary SLC46A1 229050 1
Folate transport deficiency FOLR1 613068 1
Fructokinase/ ketohexokinase deficiency KHK 229800 1
Fructose intolerance, hereditary ALDOB 229600 2
Fructose-1,6-biphosphatase-1 deficiency FBP1 229700 1
GABA-transaminase deficiency GABA-T/ ABAT 613163 1
Galactokinase deficiency GALK1 230200 2
Galactosemia GALT 230400 1
Galactosialidosis CTSA 256540 1
Galactosyltransferase 1/ Congenital disorder of glycosylation, type II d B4GALT1 607091 1
Gastric intrinsic factor deficiency GIF 261000 1
Glucose transporter deficiency GLUT1/ SLC2A1 606777 1
Glucose-6-phosphate dehydrogenase deficiency G6PD 300908 1
Glutaric aciduria type 1 GCDH 231670 2
Glutamate dehydrogenase-1 deficiency GLUD1 606762 1
Glutaminase deficiency GLS 138280 1
Glutaminyl-tRNA synthetase QARS 603727 1
Glutamyl-Prolyl-tRNA synthetase EPRS 138295 1
Glutamyl-t-RNA synthetase 2 deficiency / Leukoencephalopathy with thalamus and brainstem involvement and high lactate "LTBL" EARS2 612799 1
Glutaredoxin 5 deficiency GLRX5 616859 1
Glycine N-methyltransferase deficiency GNMT 606664 1
Glycine transporter 1 deficiency SLC6A9 1
Glycine transporter 2 deficiency SLC6A5 614618 1
Glycogen storage disease type II/ Pompe disease GAA 232300 1
Glycogen storage disease type IV GBE1 232500 1
Glycogen storage disease type VII (Tauri) PFKM 232800 1
Glycogen storage disease type 0, GSD-0 GYS2 240600 1
Glycyl-tRNA synthetase GARS 600287 1
GM1-gangliosidosis GLB1 230500 1
Greenberg skeletal dysplasia LBR 215140 1
GTP cyclohydrolase I deficiency GCH1 233910 2
Guanidinoacetate methyltransferase deficiency GAMT 612736 1
Hartnup disease SLC6A19 234500 1
Histidyl-tRNA synthetase HARS 142810 1
Histidyl-tRNA synthetase 2 HARS2 600783 1
HMG-CoA lyase deficiency/ 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency HMGCL 246450 2
Holocarboxylase synthetase deficiency HLCS 253270 1
D-2- and L-2-hydroxyglutaric aciduria/ mitochondrial citrate transporter SLC25A1 615182 1
D-2-hydroxyglutaric acidurie met metaphyseal chondromatosis IDH1 147700 2
D-2-hydroxyglutaric aciduria, type 1 D2HGDH 600721 1
D-2-hydroxyglutaric aciduria, type 2 IDH2 613657 2
L-2-hydroxyglutaric aciduria L2HGDH 236792 1
3-hydroxyisobutyrate dehydrogenase deficiency HIBADH 608475 2
3-hydroxyisobutyryl-CoA hydrolase deficiency HIBCH 250620 1
Hyper IgD syndrome/ Mevalon aciduria/ Mevalonate kinase deficiency MVK 260920 1
Hypercarotenemia and vitamin A deficiency BCO1 115300 1
Hyperfenylalaninemia, BH4-deficient, A PTS 261640 1
Hyperphenylalaninemia, BH4-deficient, C / Dihydropteridine reductase deficiency QDPR 261630 1
Hyperlysinemia AASS 238700 1
Hyperoxaluria type 1 AGXT 259900 1
Hyperoxaluria type 2 GRHPR 260000 2
Hyperoxaluria type 3 HOGA1 613616 2
Hyperphenylalaninemia, mild, non-BH4-deficient DNAJC12 617384 1
Hypophosphatemic rachitis, X-linked dominant PHEX 307800 1
Hypomyelinisation/ phosphatidylinositol (PI) 4-kinase deficiency PI4KA 616531 1
Hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT1 300322 2
Imerslund-Grasbeck syndrome 2/ Megaloblastic anemia-1, Norwegian type AMN 261100 1
Inosine triphosphatase deficiency ITPA 613850 1
Isoleucyl-tRNA synthetase IARS 600709 1
Isoleucyl-tRNA synthetase 2 IARS2 612801 1
Isovaleryl-CoA dehydrogenase deficiency /Isovaleric acidemia IVD 243500 1
ß-ketothiolase deficiency ACAT1 607809 1
Krabbe disease GALC 245200 1
Lathosterolosis SC5DL 607330 2
Leucyl-tRNA synthetase LARS 151350 1
Leucyl-tRNA synthetase 2 LARS2 604544 1
LIPIN 3 LPIN3 1
Lipoic Acid synthase deficiency LIAS 614462 1
Lysinuric protein intolerance LPI/ SLC7A7 222700 1
Lysosomal acid lipase deficiency LIPA 278000 1
Lysyl-tRNA synthetase KARS 601421 1
Majeed syndrome LPIN2 609628 1
Malonyl-CoA-decarboxylase deficiency MLYCD 248360 1
Mannosidase, beta A, lysosomal deficiency MANBA 609489 1
Mannosidosis, alpha-, type I and II MAN2B1 248500 1
Maple syrup urine disease II DBT 248600 1
Maple syrup urine disease Ia BCKDHA 248600 1
Maple syrup urine disease Ib BCKDHB 248600 1
Methionine adenosyltransferase deficiency MAT1A 250850 1
Methionyl-tRNA synthetase 2 MARS2 609728 1
2-methylbutyryl glycinuria / 2-methylbutyryl-CoA dehydrogenase deficiency ACADSB 610006 1
3-Methylcrotonyl-CoA carboxylase deficiency MCCC1 210200 1
3-Methylcrotonyl-CoA carboxylase deficiency MCCC2 210210 1
Methylenetetrahydrofolate dehydrogenase 1 deficiency MTHFD1 601643 1
Methylenetetrahydrofolate reductase deficiency MTHFR 236250 1
3-methylglutacon aciduria type I AUH 250950 2
3-methylglutacon aciduria type 3 / Optic atrophy OPA3 258501 2
2-methylglutaconyl-CoA hydratase deficiency / 3-methylglutacon aciduria type I AUH 250950 2
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency HSD17B10 (HADH2) 300438 2
Methylmalonic acidemia and homocysteinemia, cblX type (X-linked) HCFC1 309541 1
Methylmalonic aciduria and homocystinurie, cblC type MMACHC 277400 1
Methylmalonic aciduria and homocystinurie, cblD type MMADHC 277410 1
Methylmalonic aciduria and homocystinurie, cblF type LMBRD1 277380 1
Methylmalonic aciduria and homocystinurie, cbIJ type ABCD4 614857 1
Methylmalonic aciduria, vitamin B12 responsive, cblA type MMAA 607481 1
Methylmalonic aciduria, vitamin B12 responsive, cblB type MMAB 607568 1
Methylmalonic aciduria, vitamin B12 responsive, transcobalamin receptor defect TCbIR / CD320 613646 2
Methylmalonate semialdehyde dehydrogenase deficiency ALDH6A1 614105 1
Methylmalonyl CoA mutase deficiency MUT 609058 1
Methylmalonyl-CoA epimerase deficiency MCEE 251120 2
5-Methyltetrahydrofolate-homocysteine methyltransferase deficiency, type cblG MTR 156570 1
5-Methyltetrahydrofolate-homocysteine methyltransferase reductase deficiency, type cblE MTRR 602568 1
Medium-chain acyl-CoA dehydrogenase deficiency ACADM 201450 1
Mitochondrial DNA depletion syndrome 2 SUCLA2 603921 1
Mitochondrial trifunctional protein deficiency (includes LCHAD deficiency) HADHA 609015 1
Mitochondrial trifunctional protein deficiency HADHB 609015 1
Molybdenum cofactor deficiency, type A MOCS1 252150 1
Molybdenum cofactor deficiency, type B MOCS2 252160 1
Molybdenum cofactor deficiency, type C GPHN 615501 1
Monocarboxylate transporter 12 deficiency SLC16A12 234500 1
Monocarboxylate transporter member 1 (MCT1) deficiency SLC16A1 600682 2
Mucolipidose type 4/ mucolipin-1 deficiency MCOLN1 252650 1
Mucopolysacharidose type 3/ Sanfilippo type A SGSH 252900 1
Multiple acyl-CoA dehydrogenase deficiency ETFA 231680 1
Multiple acyl-CoA dehydrogenase deficiency ETFB 231680 2
Multiple acyl-CoA dehydrogenase deficiency ETFDH 231680 1
Multiple mitochondrial dysfunctions syndrome 1 NFU1 605711 1
N-acetylglutamate synthase deficiency NAGS 237310 1
Neuraminidase deficiency / Sialidosis NEU1 608272 2
Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities (NEDHSB) /Spermatogenesis-associated protein 5 deficiency SPATA5 616577 1
NKH Aminomethyltransferase deficiency AMT 605899 2
NKH Glycine cleavage system H-protein deficiency GCSH 605899 1
NKH Glycine decarboxylase deficiency GLDC 605899 1
Nucleotide-binding protein-like protein deficiency NUBPL 613621 1
Ornithine transcarbamylase deficiency OTC 311250 1
Phenylalanyl-tRNA synthetase 2 FARS2 611592 1
Phenylalanyl-tRNA synthetase, alpha subunit FARSA 602918 1
Phenylalanyl-tRNA synthetase, beta subunit FARSB 609690 1
Phenylketonuria/hyperfenylalaninemia, non-PKU mild PAH 261600 1
Phosphoglycerate dehydrogenase deficiency PHGDH 601815 1
Phosphoglycerate mutase deficiency, muscle PGAM2 261670 2
Phosphoribosyl pyrophosphate synthetase superactivity and deficiency PRPS1 300661 2
Phosphoserine aminotransferase deficiency PSAT1 610936 1
Phosphoserine phosphatase deficiency PSPH 614023 1
Prolyl-tRNA synthetase 2 PARS2 612036 1
Propionic acidemia /Propionyl CoA carboxylase  alpha subunit deficiency PCCA 606054 1
Propionic acidemia /Propionyl CoA carboxylase  beta subunit deficiency PCCB 606054 1
Purine nucleoside phosphorylase deficiency PNP 164050 2
Pyridoxal phosphate binding protein PLPBP 617290 1
Pyridoxamine 5'-phosphate oxidase deficiency PNPO 610090 1
Pyridoxine dependent epilepsy ALDH7A1 266100 1
Refsum disease PEX7 614879 2
Refsum disease PHYH/PAHX 266500 2
Rhabdomyolysis, acute recurrent LPIN1 268200 1
Rhizomelic chondrodysplasia punctata type 1 PEX7 215100 2
Rhizomelic chondrodysplasia punctata type 2 GNPAT 222765 1
Rhizomelic chondrodysplasia punctata type 3 AGPS 600121 1
Ribose 5-phosphate isomerase deficiency RPIA 180430 1
S-adenosylhomocysteine hydrolase (SAHH) deficiency AHCY 613752 1
Sedoheptulokinase deficiency SHPK 1
Seryl-tRNA synthetase SARS 607529 1
Seryl-tRNA synthetase 2 SARS2 612804 1
Short-chain acyl-CoA dehydrogenase deficiency ACADS 201470 2
Short-chain enoyl-CoA hydratase/Crotonase deficiency ECHS1 602292 2
Sjögren-Larsson syndrome ALDH3A2/ALDH10 270200 1
Smith-Lemli-Opitz Syndrome DHCR7 270400 2
Sodium phosphate cotransporter, member 3 deficiency SLC34A3 241530 1
Sodium-dependent citrate transporter, member 5 deficiency SLC13A5 615905 1
Spermine synthase deficiency (Snyder-Robinson) SMS 309583 1
Succinate semialdehyde dehydrogenase deficiency SSADH/ ALDH5A1 271980 1
Succinate-CoA ligase SUCLG1 611224 2
Succinyl CoA:3-oxoacid CoA transferase deficiency OXCT1/SCOT 245050 1
Sulfatase modifying factor 1 deficiency / Multiple sulfatase deficiency SUMF1 272200 1
Sulfite oxidase deficiency SUOX 272300 1
Tay-Sachs disease HEXA 272800 1
Thiamine transporter deficiency SLC19A3 607483 1
Threonyl-tRNA synthetase TARS 187790 1
Threonyl-tRNA synthetase 2 TARS2 612805 1
Threonyl-tRNA synthetase-like 2 TARSL2 1
Thymidine phosphorylase deficiency TYMP 603041 2
Transaldolase deficiency TALDO1 606003 1
Transketolase deficiency TKT 606781 1
Triosephosphate isomerase deficiency TPI1 190450 1
Tryptophanyl-tRNA synthetase WARS 191050 1
Tryptophanyl-tRNA synthetase 2 WARS2 604733 1
Tyrosine hydroxylase deficiency TH 191290 1
Tyrosyl-tRNA synthetase YARS 603623 1
Tyrosyl-tRNA synthetase 2 YARS2 610957 1
ß-ureidopropionase deficiency UPB1 606673 2
Valyl-tRNA synthetase VARS 192150 1
Valyl-tRNA synthetase 2 VARS2 612802 1
Branched chain aminotransaminase 2 deficiency BCAT2 618850 1
Very long-chain acyl-CoA dehydrogenase deficiency ACADVL 201475 1
X-linked adrenoleukodystrophy ABCD1/X-ALD 300100 2
Zellweger spectrum (Zellweger syndrome, NALD, IRD) PEX1 602136 1
Zellweger spectrum (Zellweger syndrome, NALD, IRD) PEX2 170993 2
Zellweger spectrum (Zellweger syndrome, NALD, IRD) PEX3 603164 1
Zellweger spectrum (Zellweger syndrome, NALD, IRD) PEX5 600414 1
Zellweger spectrum (Zellweger syndrome, NALD, IRD) PEX6 601498 1
Zellweger spectrum (Zellweger syndrome, NALD, IRD) PEX10 602859 2
Zellweger spectrum (Zellweger syndrome, NALD, IRD) PEX11β 603867 2
Zellweger spectrum (Zellweger syndrome, NALD, IRD) PEX12 601758 2
Zellweger spectrum (Zellweger syndrome, NALD, IRD) PEX13 601789 2
Zellweger spectrum (Zellweger syndrome, NALD, IRD) PEX14 601791 2
Zellweger spectrum (Zellweger syndrome, NALD, IRD) PEX16 603360 1
Zellweger spectrum (Zellweger syndrome, NALD, IRD) PEX19 600279 2
Zellweger spectrum (Zellweger syndrome, NALD, IRD) PEX26 608666 2
Zinc transporter deficiency/ Acrodermatitis enteropathica SLC39A4 201100 1