DNA-diagnostics

Information DNA testing

Within DNA diagnostics, molecular gene analysis (Sanger sequencing) is offered for inborn errors of metabolism. The genes are listed in tables ordered by group of disorders and in a table in alphabetical order.

Materials

Genomic DNA

  • Conditions (store and shipment): Room temperature.
  • Specifics: Minimum amount of genomic DNA for whole gene analysis is 5 microgram per gene. DNA samples should be sent in clearly labeled (with name of patient and date of birth), tightly capped tubes at room temperature and preferably by courier service. Samples need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.

Whole blood

  • Conditions (store and shipment): Room temperature.
  • Specifics: 1-3 ml EDTA/Heparin blood should be sent AT ROOM TEMPERATURE in clearly labeled (with name of patient and date of birth), tightly capped tubes, wrapped in protective material, placed in a sealed plastic bag and shipped by courier service in a Styrofoam shipping box. Blood samples need to arrive in our laboratory within 48 hours after drawing. Please complete the test request form and send it along with the sample.

Cultured skin fibroblasts, chorionic villi cells or amniocytes

  • Conditions (store and shipment): Room temperature.
  • Specifics: Grow cells to near confluence (~ 80% confluent) in a T-25 flask, fill the flask completely with sterile buffered (with 25mM Hepes) culture medium supplemented with serum and penicilline-streptomycine. Cap the flasks tightly and wrap the cap with parafilm. Label the flask clearly (with name of patient, date of birth and date of collection), wrap the culture flaks in protective material and place it in a sealed plastic bag in a Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. The cultured cells need to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.

Chorionic villus sample

  • Conditions (store and shipment): Room temperature.
  • Specifics: Chorionic villus samples should be sent in a 15 ml conical tube filled with sterile culture medium. Cap the tube tightly and wrap the cap with parafilm. Label the tube clearly (with name of patient, date of birth and date of collection), wrap the tube in protective material and place it in a sealed plastic bag in a Styrofoam shipping box and ship AT ROOM TEMPERATURE by courier service. The sample needs to arrive in our laboratory within 48 hours. Please complete the test request form and send it along with the sample.

TAT

Postnatal analysis < 2 months
Prenatal analysis < 2 weeks
Urgent analysis * 2-3 weeks

* Urgent analysis in consultation for specific indications (e.g. treatment consequences and newborn screening)

Price

Whole gene analysis see table with genes (below):
Whole gene analysis category 1 € 800
Whole gene analysis category 2 € 550

Carrier analysis € 350
Prenatal analysis € 550

Genes (a-z)

For a complete list of genes in alphabetical order click here.

Genes in groups of metabolic disorders:

Amino acid metabolism and transport disorders (DNA)

Name Gene OMIM Price whole gene analysis
Argininosuccinate lyase ASL 207900 1
BolA family member 3 deficiency BOLA3 614299 2
Branched chain aminotransaminase 2 deficiency BCAT2 618850 1
Carbamylphosphate synthase 1 deficiency CPS1 237300 1
Citrullinemia, type 1 ASS1 215700 1
Citrullinemia, type 2 SLC25A13 603471 1
Cystathionine beta-synthase deficiency CBS 236200 1
Dihydrolipoamide dehydrogenase deficiency (MSUD type 3) DLD 246900 1
Fenylketonuria/hyperfenylalaninemia, non-PKU mild PAH 261600 1
Glutaminase deficiency GLS 138280 1
Glutamate dehydrogenase-1 deficiency GLUD1 606762 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
Hartnup disease SLC6A19 234500 1
HMG-CoA lyase deficiency/ 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency HMGCL 246450 2
3-hydroxyisobutyrate dehydrogenase deficiency HIBADH 608475 2
3-hydroxyisobutyryl-CoA hydrolase deficiency HIBCH 250620 1
Hyperlysinemia AASS 238700 1
Hyperphenylalaninemia, mild, non-BH4-deficient DNAJC12 617384 1
Isovaleryl-CoA dehydrogenase deficiency /Isovaleric acidemia IVD 243500 1
Lipoic Acid synthase deficiency LIAS 614462 1
Lysinuric protein intolerance LPI/ SLC7A7 222700 1
Maple syrup urine disease, type Ia BCKDHA 248600 1
Maple syrup urine disease, type Ib BCKDHB 248600 1
Maple syrup urine disease, type 2 DBT 248600 1
Methionine adenosyltransferase deficiency MAT1A 250850 1
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency HSD17B10 (HADH2) 300438 2
3-Methylcrotonyl-CoA carboxylase deficiency MCCC1 210200 1
3-Methylcrotonyl-CoA carboxylase deficiency MCCC2 210210 1
3-Methylglutacon aciduria type I AUH 250950 2
Multiple mitochondrial dysfunctions syndrome 1 NFU1 605711 1
N-acetylglutamate synthase deficiency NAGS 237310 1
NKH: Aminomethyltransferase deficiency AMT 605899 2
NKH: Glycine cleavage system H-protein deficiency GCSH 605899 1
NKH: Glycine decarboxylase deficiency GLDC 605899 1
Ornithine transcarbamylase deficiency OTC 311250 1
Phosphoglycerate dehydrogenase deficiency PHGDH 601815 1
Phosphoserine aminotransferase 1 deficiency PSAT1 610936 1
Phosphoserine phosphatase deficiency PSPH 614023 1
S-adenosylhomocysteine hydrolase (SAHH) deficiency AHCY 613752 1
Short-chain enoyl-CoA hydratase/Crotonase deficiency ECHS1 602292 2
Sulfite oxidase deficiency SUOX 272300 1

Aminoacyl tRNA synthetases (Mitochondrial) (DNA)

Naam Gen OMIM Price whole gene analysis
Alanyl-tRNA synthetase 2 AARS2 612035 1
Arginyl-tRNA synthetase 2 RARS2 611524 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
Cysteinyl-tRNA synthetase 2 CARS2 612800 1
Glutamyl-t-RNA synthetase 2 deficiency / Leukoencephalopathy with thalamus and brainstem involvement and high lactate "LTBL" EARS2 612799 1
Histidyl-tRNA synthetase 2 HARS2 600783 1
Isoleucyl-tRNA synthetase 2 IARS2 612801 1
Leucyl-tRNA synthetase 2 LARS2 604544 1
Methionyl-tRNA synthetase 2 MARS2 609728 1
Phenylalanyl-tRNA synthetase 2 FARS2 611592 1
Prolyl-tRNA synthetase 2 PARS2 612036 1
Seryl-tRNA synthetase 2 SARS2 612804 1
Threonyl-tRNA synthetase 2 TARS2 612805 1
Tryptophanyl-tRNA synthetase 2 WARS2 604733 1
Tyrosyl-tRNA synthetase 2 YARS2 610957 1
Valyl-tRNA synthetase 2 VARS2 612802 1

Aminoacyl tRNA synthetases (Cytoplasmatic) (DNA)

Name Gene OMIM Price whole gene analysis
Alanyl-tRNA synthetase AARS 601065 1
Arginyl-tRNA synthetase RARS 107820 1
Asparaginyl-tRNA synthetase NARS 108410 1
Aspartyl-tRNA synthetase deficiency / Hypomyelinisation with brainstem and spinal cord involvement and leg spasticity "HBSL" DARS 615281 1
Cysteinyl-tRNA synthetase CARS 123859 1
Glutamyl-Prolyl-tRNA synthetase EPRS 138295 1
Glutaminyl-tRNA synthetase QARS 603727 1
Glycyl-tRNA synthetase GARS 600287 1
Histidyl-tRNA synthetase HARS 142810 1
Isoleucyl-tRNA synthetase IARS 600709 1
Leucyl-tRNA synthetase LARS 151350 1
Lysyl-tRNA synthetase KARS 601421 1
Phenylalanyl-tRNA synthetase, alpha subunit FARSA 602918 1
Phenylalanyl-tRNA synthetase, beta subunit FARSB 609690 1
Seryl-tRNA synthetase SARS 607529 1
Threonyl-tRNA synthetase TARS 187790 1
Tryptophanyl-tRNA synthetase WARS 191050 1
Tyrosyl-tRNA synthetase YARS 603623 1
Valyl-tRNA synthetase VARS 192150 1

Aminoacyl tRNA synthetases (related) (DNA)

Name Gene OMIM Price whole gene analysis
Aminoacyl-tRNA synthetase complex-interactive multifunctional protein 1 AIMP1 603605 2
Aminoacyl-tRNA synthetase complex-interactive multifunctional protein 2 AIMP2 600859 2
D-tyrosyl-tRNA deacylase DTD1 610996 1
Eukaryotic translation elongation factor epsilon EEF1E1 609206 1
Threonyl-tRNA synthetase-like 2 TARSL2 1

Carbohydrate metabolism and transport disorders (DNA)

Name Gene OMIM Price whole gene analysis
Fructokinase/ ketohexokinase deficiency KHK 229800 1
Fructose intolerance, hereditary ALDOB 229600 2
Fructose-1,6-biphosphatase-1 deficiency FBP1 229700 1
Galactokinase deficiency GALK1 230200 2
Galactosemia GALT 230400 1
Glucose transporter deficiency GLUT1/ SLC2A1 606777 1
Glucose-6-phosphate dehydrogenase deficiency G6PD 300908 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
Phosphoglycerate mutase deficiency, muscle PGAM2 261670 2
Ribose 5-phosphate isomerase deficiency RPIA 180430 1
Sedoheptulokinase deficiency SHPK 1
Transaldolase deficiency TALDO1 606003 1
Transketolase deficiency TKT 606781 1
Triosephosphate isomerase deficiency TPI1 190450 1

Creatine metabolism and transport disorders (DNA)

Name Gene OMIM Price whole gene analysis
Arginine:glycine amidinotransferase deficiency AGAT/ GATM 612718 2
Creatine transporter defect, X-linked SLC6A8 300352 1
Guanidinoacetate methyltransferase deficiency GAMT 612736 1
Monocarboxylate transporter 12 deficiency SLC16A12 234500 1

Cholesterol/isoprenoïd biosynthesis defects (DNA)

Name Gene OMIM Price whole gene analysis
CHILD syndrome NSDHL 308050 2
Conradi-Hünermann-Happle syndrome/CDPX2 EBP 302960 2
Desmosterolosis DHCR24 602398 2
Greenberg skeletal dysplasia LBR 215140 1
Hyper IgD syndrome/ Mevalon aciduria/ Mevalonate kinase deficiency MVK 260920 1
Lathosterolosis SC5DL 607330 1
Smith-Lemli-Opitz Syndrome DHCR7 270400 1

GABA metabolism disorder (DNA)

Name Gene OMIM Price whole gene analysis
GABA-transaminase deficiency GABA-T/ ABAT 613163 1
Succinate semialdehyde dehydrogenase deficiency SSADH/ ALDH5A1 271980 1

Hypophosphatemic rickets (DNA)

Name Gene OMIM Price whole gene analysis
Dentin matrix acidic phosphoprotein 1 deficiency DMP1 600980 2
Ectonucleotide pyrophosphatase/phosphodiesterase 1 deficiency ENPP1 173335 1
Hypophosphatemic rachitis, X-linked dominant PHEX 307800 1
Sodium phosphate cotransporter, member 3 deficiency SLC34A3 241530 1

Ketolysis defects (DNA)

Name Gene OMIM Whole gene analysis
ß-ketothiolase deficiency ACAT1 607809 € 800
Monocarboxylate transporter member 1 (MCT1) deficiency SLC16A1 600682 € 550
Succinyl CoA:3-oxoacid CoA transferase deficiency OXCT1 / SCOT 245050 € 800

Lysosomal storage disorders (DNA)

Name Gene OMIM Price whole gene analysis
Arylsulfatase A deficiency ARSA 250100 2
Galactosialidosis CTSA 256540 1
Glycogen storage disease type II/ Pompe disease GAA 232300 1
GM1-gangliosidosis GLB1 230500 1
Krabbe disease GALC 245200 1
Lysosomal acid lipase deficiency LIPA 278000 1
Mannosidase, beta A, lysosomal deficiency MANBA 609489 1
Mannosidosis, alpha-, type I en II MAN2B1 248500 1
Mucolipidose type 4/ mucolipin-1 deficiency MCOLN1 252650 1
Mucopolysacharidose type 3/ Sanfilippo type A SGSH 252900 1
Neuraminidase deficiency/ Sialidosis NEU1 608272 2
Sulfatase modifying factor 1 deficiency/ Multiple sulfatase deficiency SUMF1 272200 1
Tay-Sachs disease HEXA 272800 1

Mitochondrial fatty acid oxidation defects (DNA)

Name Gene OMIM Price whole gene analysis
Carnitine-acylcarnitine translocase deficiency SLC25A20 / CACT 212138 2
Carnitine deficiency, primary SLC22A5 / OCTN2 212140 2
Carnitine palmitoyltransferase 1 deficiency CPT1A 255120 1
Carnitine palmitoyltransferase 2 deficiency CPT2 600649 2
Medium-chain acyl-CoA dehydrogenase deficiency ACADM 201450 1
Mitochondrial trifunctional protein deficiency (LCHAD deficiency included) HADHA 609015 1
Mitochondrial trifunctional protein deficiency HADHB 609015 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
Short-chain acyl-CoA dehydrogenase deficiency ACADS 201470 2
Very long-chain acyl-CoA dehydrogenase deficiency ACADVL 201475 1

Organic acidurias (DNA)

Name Gene OMIM Price whole gene analysis
Acyl-CoA synthetase family, member 3 deficiency ACSF3 614265 1
Canavan disease ASPA 271900 2
Ethylmalon aciduria (Ethylmalon encephalopathy) ETHE1 602473 2
Glutaric aciduria type 1 GCDH 231670 2
D-2- and L-2-hydroxyglutaric aciduria/ mitochondrial citrate transporter SLC25A1 615182 1
D-2-hydroxyglutaric aciduria with 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
2-methylbutyryl glycinuria / 2-methylbutyryl-CoA dehydrogenase deficiency ACADSB 610006 1
3-methylglutacon aciduria type 3 / Optic atrophy 3 OPA3 258501 2
2-methylglutaconyl-CoA hydratase deficiency / 3-methylglutaconic aciduria type I AUH 250950 2
Methylmalonyl-CoA epimerase deficiency MCEE 251120 2
Mitochondrial DNA depletion syndrome 2 SUCLA2 603921 1
Malonyl-CoA-decarboxylase deficiency MLYCD 248360 1
Methylmalonate semialdehyde dehydrogenase deficiency ALDH6A1 614105 1
Methylmalonyl CoA mutase deficiency MUT 609058 1
Propion aciduria / Propionyl CoA carboxylase alpha subunit deficiency PCCA 606054 1
Propion aciduria / Propionyl CoA carboxylase beta subunit deficiency PCCB 606054 1
Succinate-CoA ligase SUCLG1 611224 2

Peroxisomal defects (DNA)

Name Gene OMIM Whole gene analysis
Acyl-CoA oxidase deficiency ACOX1 264470 € 800
Alpha-methylacyl-CoA racemase AMACR 604489 € 550
Complementation analysis PEX gene unknown 214100 € 800
D-Bifunctional protein deficiency HSD17B4 / DBP / MFE2 261515 € 800
Hyperoxaluria type 1 AGXT 259900 € 800
Hyperoxaluria type 2 GRHPR 260000 € 550
Hyperoxaluria type 3 HOGA1 613616 € 550
Refsum disease PEX7 614879 € 550
Refsum disease PHYH / PAHX 266500 € 550
Rhizomelic chondrodysplasia punctata type 1 PEX7 215100 € 550
Rhizomelic chondrodysplasia punctata type 2 GNPAT 222765 € 800
Rhizomelic chondrodysplasia punctata type 3 AGPS 600121 € 800
X-linked adrenoleukodystrophy ABCD1 / X-ALD 300100 € 550
Zellweger spectrum (Zellweger syndrome, NALD, IRD) PEX1 602136 € 800
Zellweger spectrum (Zellweger syndrome, NALD, IRD) PEX2 170993 € 550
Zellweger spectrum (Zellweger syndrome, NALD, IRD) PEX3 603164 € 800
Zellweger spectrum (Zellweger syndrome, NALD, IRD) PEX5 600414 € 800
Zellweger spectrum (Zellweger syndrome, NALD, IRD) PEX6 601498 € 800
Zellweger spectrum (Zellweger syndrome, NALD, IRD) PEX10 602859 € 550
Zellweger spectrum (Zellweger syndrome, NALD, IRD) PEX11β 603867 € 550
Zellweger spectrum (Zellweger syndrome, NALD, IRD) PEX12 601758 € 550
Zellweger spectrum (Zellweger syndrome, NALD, IRD) PEX13 601789 € 550
Zellweger spectrum (Zellweger syndrome, NALD, IRD) PEX14 601791 € 550
Zellweger spectrum (Zellweger syndrome, NALD, IRD) PEX16 603360 € 800
Zellweger spectrum (Zellweger syndrome, NALD, IRD) PEX19 600279 € 550
Zellweger spectrum (Zellweger syndrome, NALD, IRD) PEX26 608666 € 550

Purine and pyrimidine metabolism disorders (DNA)

Name Gene OMIM Price whole gene analysis
Adenine phosphoribosyl transferase deficiency APRT 102600 2
Adenosine deaminase deficiency ADA 102700 1
Adenosine deaminase 2 deficiency ADA2/CECR1 607575 1
Adenosine kinase deficiency ADK 614300 1
Adenylosuccinate lyase deficiency ADSL 103050 1
Dihydropyrimidinase deficiency DPYS 222748 2
Dihydropyrimidine dehydrogenase deficiency DPYD 274270 1
Hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT1 300322 2
Inosine triphosphatase deficiency ITPA 613850 1
Phosphoribosyl pyrophosphate synthetase superactivity and deficiency PRPS1 300661 2
Purine nucleoside phosphorylase deficiency PNP 164050 2
Thymidine phosphorylase deficiency TYMP 603041 2
ß-ureidopropionase deficiency UPB1 606673 2

Vitamin, co-factor or metal disorder (DNA)

Name Gene OMIM Price whole gene analysis
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
Ceruloplasmine deficiency / ferroxidase CP 604290 1
Cytosolic iron-sulfur assembly component CIAO1 604333 1
Dihydrofolate reductase deficiency DHFR 613839 2
Folate malabsorption, hereditary SLC46A1 229050 1
Folate transport deficiency FOLR1 613068 1
Gastric intrinsic factor deficiency GIF 261000 1
Holocarboxylase synthetase deficiency HLCS 253270 1
Hypercarotenemia and vitamin A deficiency BCO1 115300 1
Hyperfenylalaninemia, BH4-deficiency, A PTS 261640 1
Hyperfenylalaninemie, BH4-deficiency, C / Dihydropteridine reductase deficiency QDPR 261630 1
Imerslund-Grasbeck syndrome 2/ Megaloblastic anemia-1, Norwegian type AMN 261100 1
Methylenetetrahydrofolate dehydrogenase 1 deficiency MTHFD1 601643 1
Methylenetetrahydrofolate reductase deficiency MTHFR 236250 1
Methylmalonic acidemia and homocysteinemia, cblX type (X-linked) HCFC1 309541 1
Methylmalonic aciduria and homocystinuria, cblC type MMACHC 277400 1
Methylmalonic aciduria and homocystinuria, cblD type MMADHC 277410 1
Methylmalonic aciduria and homocystinuria, cblF type LMBRD1 277380 1
Methylmalonic aciduria and homocystinuria, cblJ 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
5-Methyltetrahydrofolate-homocysteine methyltransferase deficiency, type cblG MTR 156570 1
5-Methyltetrahydrofolate-homocysteine methyltransferase reductase deficiency, type cblE MTRR 602568 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
Pyridoxal phosphate binding protein PLPBP 617290 1
Pyridoxamine 5'-phosphate oxidase deficiency PNPO 610090 1
Pyridoxine dependent epilepsy ALDH7A1 266100 1
Thiamine transporter deficiency SLC19A3 607483 1
Zinc transporter deficiency/ Acrodermatitis enteropathica SLC39A4 201100 1

Other defects (DNA)

Name Gene OMIM Whole gene analysis
Alexander disease GFAP 203450 1
Alkaline phospatase, liver deficiency ALPL 146300, 241500, 241510 1
B-Cell receptor associated protein 31 deficiency BCAP31 300398 1
Carbonic anhydrase VA deficiency CA5A 2
Chitotriosidase deficiency c.1049_1072dup CHIT1 614122 2
Collectrin/ Transmembrane protein 27 TMEM27 1
Congenital disorder of glycosylation, type II h, CDG IIh COG8 611182 2
Galactosyltransferase 1/ Congenital disorder of glycosylation, type II d (B4GALT1) B4GALT1 607091 1
Hypomyelinisation/ phosphatidylinositol (PI) 4-kinase deficiency PI4KA 616531 1
Rhabdomyolysis, acute recurrent LPIN1 268200 1
Sjögren-Larsson syndrome ALDH3A2/ALDH10) 270200 1
LIPIN 3 LPIN3 1
Majeed syndrome LPIN2 609628 1
Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities (NEDHSB) /Spermatogenesis-associated protein 5 deficiency SPATA5 616577 1
Nucleotide-binding protein-like protein deficiency NUBPL 613621 1
Sodium-dependent citrate transporter, member 5 deficiency SLC13A5 615905 1
Spermine synthase deficiency (Snyder-Robinson) SMS 309583 1