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DNA diagnostics

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

Ship at room temperature with a complete request form. Please contact Prof. Gajja Salomons for instructions for prenatal diagnosis. 

Name

Gene

OMIM

17-beta-hydroxysteroid dehydrogenase X deficiency/

2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase (MHBD) deficiency

HSD17B10

#300438

Acrodermatitis enteropathica /zinc transporter (SLC39A4)

SLC39A4

#201100

Acyl-CoA synthetase family, member 3 deficiency

ACSF3

#614265

Adenosine kinase deficiency, Hypermethioninemia due to

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, hyperammonemia due   to

CPS1

#237300

Carbonic anhydrase VA deficiency

CA5A

 

Ceruloplasmin (ferroxidase) (CP) deficiency

CP

#604290

Citrullinemia type 1 (argininosuccinate synthetase 1 deficiency)

ASS1

#215700

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

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

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

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

Guanidinoacetate methyltransferase (GAMT) deficiency

GAMT

#612736

Hartnup disorder (SLC6A19)

SLC6A19

#234500

Hyperphenylalaninemia, BH4-deficient, A/ 6-pyruvoyl-tetrahydropterin synthase deficiency

PTS

#261640

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", Aspartyl-tRNA Synthetase deficiency

DARS

#615281

Inosine triphosphatase deficiency

ITPA

#613850

L-2-hydroxyglutaric aciduria

L2HGDH

#236792

Leukoencephalopathy with brain 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

LIPIN3

LPIN3

 

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 deficiency/ 2-methylbutyryl-CoA dehydrogenase deficiency

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

Myoglobinuria, acute recurrent

LPIN1

#268200

N-acetylglutamate synthase deficiency

NAGS

#237310

Nucleotide-binding protein-like protein

NUBPL

#613621

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

Proline synthetase co-transcribed homolog (bacterial)

PROSC

#617290

Propionyl-CoA carboxylase alpha subunit deficiency (PCCA)

PCCA

#606054

Propionyl-CoA carboxylase beta subunit deficiency (PCCB)

PCCB

#606054

Pyridoxine dependent epilepsy / Antiquitin deficiency (ATQ)

ALDH7A1

#266100

Pyridoxamine 5'-phosphate oxidase deficiency

PNPO

#610090

Quinoid dihydropteridine reductase deficiency / hyperphenylalaninemia, BH4-deficient, C

QDPR

#261630

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

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

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

Known variants in the genes ASPA, ALDH5A1, GAMT, GATM, D2HGDH, L2HGDH, SLC6A8 are registered in the Leiden Open Variation Database (LOVD).