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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

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

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

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

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

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

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).