The Metabolic laboratory for DNA diagnostics can offer post- en prenatal genetic testing for over a 100 genes (see list below). The turnaround time is 3 weeks. Our laboratory has special interest in disorders of GABA metabolism, the pentose phosphate pathway, creatine metabolisme and creatine transport, homocysteine metabolisme, pyridoxine dependant epilepsy, 2-hydroxyglutaric acidurias and aminoacyl tRNA synthetase defects. If genetic testing is required for inborn errors of metabolism that are not listed below, please contact Prof. G.S. Salomons. We are capable to facilitate special requests for one or more genes, usually, within a period of a month.

Turnaround time (TAT):

whole gene /known mutations: 3 weeks
prenatal diagnosis: 1 week
Material needed: 2 ml of EDTA blood, DNA

Costs:

Whole gene: €795,-
known mutations: €385,-
prenatal diagnosis €820,-  ,exclusive maternal contamination
Name Gene OMIM
17-beta-hydroxysteroid dehydrogenase X deficiency/ HSD17B10 #300438
Acrodermatitis enteropathica /zinc transporter (SLC39A4) SLC39A4 #201100
Acyl-CoA synthetase family, member 3 deficiency ACSF3 #614265
Adenosine kinase deficiency ADK #614300
Adenylosuccinate lyase (ADSL) deficiency ADSL #103050
Alanyl-tRNA synthethase AARS #601065
Alanyl-tRNA synthethase 2 (mitochondrial) AARS2 #612035
Alexander disease GFAP #203450
Alkaline phosphatase, liver (ALPL) deficiency ALPL #146300, #241500, #241510
Aminomethyltransferase deficiency AMT #605899
Arginine glycine amidinotransferase deficiency AGAT/GAMT #612718
Arylsulfatase A (ARSA) deficiency ARSA #250100
B-Cell Receptor Associated Protein 31 BCAP31 #300398
BolA family member 3 deficiency (BOLA3) BOLA3 #614299
Canavan disease ASPA #271900
Carbamoyl phosphate synthetase 1 deficiency CPS1 #237300
Carbonic anhydrase VA deficiency CA5A
Ceruloplasmin (ferroxidase) (CP) deficiency CP #604290
Citrullinemia type 1 (argininosuccinate synthetase 1 deficiency) ASS1 #215700
Citrullinemie type II (CTLN2) SLC25A13 #603471,
Congenital disorder of glycosylation, type II d B4GALT1 #607091
Creatine transporter defect, X-linked SLC6A8 #300352
Creatine transporter 2 / monocarboxylate transporter 12 (MCT12) SLC16A12 #612018
D-2-hydroxyglutaric aciduria type I D2HGDH #600721
D-2-hydroxyglutaric aciduria type II IDH2 #613657
D-2-hydroxyglutaric aciduria with metaphyseal chondromatosis IDH1 *147700
D-2- and L-2-hydroxyglutaric aciduria SLC25A1 #615182
Dentin matrix acidic phosphoprotein 1 DMP1 #600980
Dihydrolipoamide dehydrogenase deficiency (MSUD type III) DLD #246900
Dihydropyrimidine dehydrogenase (DPD) deficiency DPYD #274270
Ectonucleotide pyrophosphatase / phosphodiesterase 1 ENPP1 *173335
Folate transport deficiency FOLR1 #613068
Fructokinase, hepatic (also known as ketohexokinase) (KHK) deficiency KHK #229800
Fructose-1,6-biphosphatase-1 deficiency FBP1 #229700
Fructose intolerance, hereditary, Aldolase B deficiency (ALDOB) ALDOB #229600
4-aminobutyrate aminotransferase (ABAT) deficiency (GABA-T) ABAT #613163
Galactosylceramidase deficiency / Krabbe disease (GALC) GALC #245200
Gastric intrinsic factor deficiency (GIF) GIF #261000
Glucan (1,4-alpha-), branching enzyme 1/ Glycogen storage disease type IV (Andersen) GBE1 #232500
Glucose-6-phosphate dehydrogenase deficiency (G6PD) G6PD #300908
Glucose transporter defect (GLUT1 deficiency) SLC2A1 #606777
Glutamate dehydrogenase-1 deficiency (GLUD1) GLUD1 #606762
Glutaredoxin 5 deficiency (GLRX5) GLRX5 #616859
Glutaric aciduria type 1 / Glutaryl-CoA dehydrogenase deficiency GCDH #231670
Glycine cleavage system H-protein deficiency GCSH #605899
Glycine decarboxylase deficiency GLDC #605899
Glycine N-methyltransferase deficiency GNMT #606664
Glycine transporter 1 deficiency (SLC6A9) SLC6A9
Glycine transporter 2 deficiency (SLC6A5) SLC6A5 #614618
Glycogen storage disease type II/ Pompe disease GAA #232300
Guanidinoacetate methyltransferase (GAMT) deficiency GAMT #612736
Hartnup disorder (SLC6A19) SLC6A19 #234500
Hypercarotenemia and vitamin A deficiency BCO1 #115300
Hyperphenylalaninemia, BH4-deficient, A/ 6-pyruvoyl-tetrahydropterin synthase deficiency PTS #261640
Hyperphenylalaninemia, BH4-deficient, B GCH1 #233910
Hyperphenylalaninemia, BH4-deficient,C QDPR #261630
Hyperphenylalaninemia, mild, non-BH4-deficient (DNAJC12) DNAJC12 #617384
Cystathionine Beta-Synthase deficiency, Hyperhomocysteinemia due to CBS #236200
Methylene Tetrahydrofolate Reductase deficiency, Hyperhomocysteinemia due to MTHFR #236250
Hypomyelinisation with brainstem and spinal cord involvement and leg spasticity "HBSL" DARS #615281
Hypomyelinisatie/ phosphatidylinositol (PI) 4-kinase deficiency PI4KA #616531
Mitochondrial aspartyl-tRNA synthetase DARS2 #613850
Inosine triphosphatase deficiency ITPA #613850
L-2-hydroxyglutaric aciduria L2HGDH #236792
Leukoencephalopathy with thalamus and brainstem involvement and high lactate "LTBL" EARS2 *612799
LIPIN3 LIPIN3
Lipoic Acid synthase deficiency (LIAS) LIAS #614462
Lysinuric protein intolerance (LPI) SLC7A7 #222700
Lysosomal acid lipase deficiency LIPA #278000
Majeed syndrome LPIN2 #609628
Malonyl-CoA-decarboxylase deficiency MLYCD #248360
Maple syrup urine disease, type Ia BCKDHA #248600
Maple syrup urine disease, type Ib BCKDHB #248600
Maple syrup urine disease, type II DBT #248600
Mannosidase, beta A, lysosomal MANBA #609489
Mannosidosis, alpha-, types I and II MAN2B1 #248500
Megaloblastic anemia-1, Norwegian type AMN #261100
Megaloblastic anemia due to dihydrofolate reductase deficiency DHFR #613839
Methionine adenosyltransferase deficiency MAT1A #250850
2-methylbutyryl glycinuria due to ACADSB deficienc ACADSB #610006
3-methylglutaconic aciduria, type III; MGCA3 OPA3 #258501
Methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) deficiency MTHFD1 #601643
Methylmalonate semialdehyde dehydrogenase (MMSDH) deficiency ALDH6A1 #614105
Methylmalonic acidemia and homocysteinemia, cblX type (X-linked) HCFC1 #309541
Methylmalonic acidemia and homocystinuria, type C (cblC) MMACHC #277400
Methylmalonic acidemia and homocystinuria, type D (cblD) CblD #277410
Methylmalonic acidemia and homocystinuria, type F (cblF) CblF #277380
Methylmalonic aciduria and homocystinuria, cblJ type ABCD4 #614857
Methylmalonic aciduria due to transcobalamin receptor defect (TCbIR /CD320) CD320 #613646
Methylmalonic aciduria, type A (cblA) MMAA #607481
Methylmalonic aciduria, type B (cblB) MMAB #607568
5-methyltetrahydrofolate-homocysteine methyltransferase reductase (cblE) MTRR #602568
5-methyltetrahydrofolate-homocysteine methyltransferase (cblG) MTR #156570
Methylmalonyl CoA mutase MUT #609058
Molybdenum cofactor deficiency, type A (MOCS1) MOCS1 #252150
Molybdenum cofactor deficiency, type B (MOCS2) MOCS2 #252160
Molybdenum cofactor deficiency, type C (GPHN) GPHN #615501
Mucolipidosis IV (ML IV)/ mucolipin-1 deficiency (MCOLN1) MCOLN1 #252650
Mucopolysacharidose type 3/ Sanfilippo type A SGSH #252900
Multiple mitochondrial dysfunctions syndrome 1 (MMDS1) NFU1 #605711
Myoglobinuria, acute recurrent LPIN1 #268200
N-acetylglutamate synthase deficiency NAGS #237310
Nucleotide-binding protein-like protein NUBPL #613621
Phenylketonuria/ Hyperphenylalaninemia, non-PKU mild PAH #261600
Ornithine transcarbamylase deficiëntie OTC #311250
Phosphofructokinase, muscle type / Glycogen storage disorder type VII (GSD VII) PFKM #232800
Phosphoglycerate dehydrogenase deficiency PHGDH #601815
Phosphoserine aminotransferase 1 PSAT1 #610936
Phosphoserine phosphatase deficiency PSPH #614023
Propionyl-CoA carboxylase alpha subunit deficiency (PCCA) PCCA #606054
Propionyl-CoA carboxylase beta subunit deficiency (PCCB) PCCB #606054
Pyridoxal phosphate binding protein PLPBP #617290
Pyridoxine dependent epilepsy / Antiquitin deficiency (ATQ) ALDH7A1 #266100
Pyridoxamine 5'-phosphate oxidase deficiency PNPO #610090
Ribose 5-fosfaat isomerase deficiency RPIA #608611
S-adenosylhomocysteine hydrolase deficiency (hypermethioninemia due to SAHH) AHCY #613752
Sedoheptulokinase deficiency SHPK
Sodium-Dependent Citrate transporter, member 5 deficiency SLC13A5 #615905
Solute carrier family 34 (sodium phosphate cotransporter), member 3 (SLC34A3) deficiency SLC34A3 #241530
Spermatogenesis associated 5 deficiency (SPATA5) SPATA5 #616577
Spermine synthase deficiency (Snyder-Robinson) SMS #309583
Succinate semialdehyde dehydrogenase (SSADH) deficiency ALDH5A1 #271980
Sulfatase modifying factor 1 deficiency / Multiple sulfatase deficiency SUMF1 #272200
Sulfite oxidase (SUOX) deficiency SUOX #272300
Thiamine metabolism dysfunction syndrome 2 (thiamine transporter deficiency) SLC19A3 #607483
Transaldolase deficiency TALDO1 #606003
Transketolase deficiency TKT *606781
Transmembrane protein 27 (TMEM27) TMEM27
Triosephosphate isomerase deficiency TPI1 190450
Tyrosine hydroxylase deficiency (TH) TH #605407
X-inactivation studies

tRNA synthetases

Name Gene OMIM
Alanyl-tRNA synthethase AARS #601065
Alanyl-tRNA synthethase 2 (mitochondrial) AARS2 #612035
Hypomyelinisation with brainstem and spinal cord involvement and leg spasticity "HBSL", Aspartyl-tRNA Synthetase deficiency DARS #615281
Leukoencephalopathy with bran stem and spinal cord involvement and lactate evelation "LBSL" / Mitochondrial aspartyl-tRNA synthetase DARS2 #611105
Leukoencephalopathy with thalamus and brainstem involvement and high lactate "LTBL" / Glutamyl-t-RNA synthetase 2 deficiency EARS2 *612799

tRNA synthetases

Name Gene OMIM
Aminoacyl-tRNA synthetase Complex-interacting Multifunctional Protein 1 AIMP1 *603605
Aminoacyl-tRNA synthetase Complex-interacting Multifunctional Protein 2 AIMP2 *600859
Arginyl-tRNA synthetase RARS *107820
Arginyl-tRNA synthetase 2, mitochondrial RARS2 *611524
Asparaginyl-tRNA synthetase NARS *108410
Asparaginyl-tRNA synthetase 2, mitochondrial NARS2 *612803
Cysteinyl-tRNA synthetase CARS *123859
Cysteinyl-tRNA synthetase 2, mitochondrial CARS2 *612800
D-tyrosyl-tRNA deacylase 1 DTD1 *610996
Eukaryotic translation elongation factor 1 epsilon 1 EEF1E1 *609206
Glutamyl-prolyl-tRNA synthetase EPRS *138295
Glutaminyl-tRNA synthetase QARS *603727
Glycyl-tRNA synthetase GARS *600287
Histidyl-tRNA synthetase HARS *142810
Histidyl-tRNA synthetase 2, mitochondrial HARS2 *600783
Isoleucyl-tRNA synthetase IARS *600709
Isoleucyl-tRNA synthetase 2, mitochondrial IARS2 *612801
Leucyl-tRNA synthetase LARS *151350
Leucyl-tRNA synthetase 2, mitochondrial LARS2 *604544
Lysyl-tRNA synthetase KARS *601421
Methionyl-tRNA synthetase 2, mitochondrial MARS2 *609728
Phenylalanyl-tRNA synthetase, alpha subunit FARSA *602918
Phenylalanyl-tRNA synthetase, beta subunit FARSB *609690
Phenylalanyl-tRNA synthetase 2, mitochondrial FARS2 *611592
Prolyl-tRNA synthetase 2, mitochondrial PARS2 *612036
Seryl-tRNA synthetase SARS *607529
Seryl-tRNA synthetase 2, mitochondrial SARS2 *612804
Threonyl-tRNA synthetase TARS *187790
Threonyl-tRNA synthetase 2, mitochondrial TARS2 *612805
Threonyl-tRNA synthetase-like 2 TARSL2
Tyrosyl-tRNA synthetase YARS *603623
Tyrosyl-tRNA synthetase 2, mitochondrial YARS2 *610957
Tryptophanyl-tRNA synthetase WARS *191050
Tryptophanyl-tRNA synthetase 2, mitochondrial WARS2 *604733
Valyl-tRNA synthetase VARS *192150
Valyl-tRNA synthetase 2, mitochondrial VARS2 *612802

Ship at room temperature with a complete request form. Please contact Prof. Gajja Salomons for instructions for prenatal diagnosis.  Known variants in the genes ASPA, ALDH5A1, GAMT, GATM, D2HGDH, L2HGDH, SLC6A8 are registered in the Leiden Open Variation Database (LOVD).