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 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 | < 1 months |
| Prenatal analysis | < 2 weeks |
| Urgent analysis * | 1-3 weeks |
* Urgent analysis in consultation for specific indications (e.g. treatment consequences and newborn screening)
Price
Whole gene analysis see table with genes (below):
DNA sequence analysis € 888
MLPA € 611
Carrier analysis € 389
Prenatal analysis € 611
The prices listed are for non-profit organizations only. In case of requests made by other types of organizations, please contact us.
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 (DNA)
| Name | Gene | OMIM |
|---|---|---|
| Argininosuccinate lyase deficiency | ASL | 207900 |
| BolA family member 3 deficiency | BOLA3 | 614299 |
| Branched chain aminotransaminase 2 deficiency | BCAT2 | 618850 |
| Carbamylphosphate synthase 1 deficiency | CPS1 | 237300 |
| Citrullinemia, type 1 | ASS1 | 215700 |
| Citrullinemia, type 2 | SLC25A13 | 603471 |
| Cystathionine beta-synthase deficiency | CBS | 236200 |
| Dihydrolipoamide dehydrogenase deficiency/ MSUD type 3 | DLD | 246900 |
| Phenylketonuria/Hyperphenylalaninemia, non-PKU mild | PAH | 261600 |
| Glutaminase deficiency | GLS | 138280 |
| Glutamate dehydrogenase-1 deficiency | GLUD1 | 606762 |
| Glutaredoxin 5 deficiency | GLRX5 | 616859 |
| Glycine N-methyltransferase deficiency | GNMT | 606664 |
| Glycine transporter 1 deficiency | SLC6A9 | 617301 |
| Glycine transporter 2 deficiency | SLC6A5 | 614618 |
| Hartnup disorder | SLC6A19 | 234500 |
| HMG-CoA lyase deficiency/ 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency | HMGCL | 246450 |
| 3-Hydroxyisobutyrate dehydrogenase deficiency | HIBADH | 608475 |
| 3-Hydroxyisobutyryl-CoA hydrolase deficiency | HIBCH | 250620 |
| Hyperlysinemia | AASS | 238700 |
| Hyperphenylalaninemia, mild, non-BH4-deficient | DNAJC12 | 617384 |
| Isovaleryl-CoA dehydrogenase deficiency /Isovaleric acidemia | IVD | 243500 |
| Lipoic Acid synthase deficiency | LIAS | 614462 |
| Lysinuric protein intolerance | SLC7A7 | 222700 |
| Maple syrup urine disease, type Ia | BCKDHA | 248600 |
| Maple syrup urine disease, type Ib | BCKDHB | 248600 |
| Maple syrup urine disease, type 2 | DBT | 248600 |
| Methionine adenosyltransferase deficiency | MAT1A | 250850 |
| 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency | HSD17B10 | 300438 |
| 3-Methylcrotonyl-CoA carboxylase (MCC) deficiency | MCCC1 | 210200 |
| 3-Methylcrotonyl-CoA carboxylase (MCC) deficiency | MCCC2 | 210210 |
| 3-Methylglutacon aciduria type I | AUH | 250950 |
| Multiple mitochondrial dysfunctions syndrome 1 | NFU1 | 605711 |
| N-acetylglutamate synthase deficiency | NAGS | 237310 |
| NKH: Aminomethyltransferase deficiency | AMT | 605899 |
| NKH: Glycine cleavage system H-protein deficiency | GCSH | 605899 |
| NKH: Glycine decarboxylase deficiency | GLDC | 605899 |
| Ornithine aminotransferase deficiency | OAT | 258870 |
| Ornithine transcarbamylase deficiency | OTC | 311250 |
| Phosphoglycerate dehydrogenase deficiency | PHGDH | 601815 |
| Phosphoserine aminotransferase 1 deficiency | PSAT1 | 610936 |
| Phosphoserine phosphatase deficiency | PSPH | 614023 |
| S-adenosylhomocysteine hydrolase (SAHH) deficiency | AHCY | 613752 |
| Short-chain enoyl-CoA hydratase/Crotonase deficiency | ECHS1 | 602292 |
| Sulfite oxidase deficiency | SUOX | 272300 |
Aminoacyl tRNA synthetases (Mitochondrial) (DNA)
| Naam | Gen | OMIM |
|---|---|---|
| Alanyl-tRNA synthetase 2 | AARS2 | 612035 |
| Arginyl-tRNA synthetase 2 | RARS2 | 611524 |
| Asparaginyl-tRNA synthetase 2 | NARS2 | 612803 |
| Aspartyl-tRNA synthetase 2 deficiency / Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation "LBSL" | DARS2 | 611105 |
| Cysteinyl-tRNA synthetase 2 | CARS2 | 612800 |
| Glutamyl-t-RNA synthetase 2 deficiency / Leukoencephalopathy with thalamus and brainstem involvement and high lactate "LTBL" | EARS2 | 612799 |
| Histidyl-tRNA synthetase 2 | HARS2 | 600783 |
| Isoleucyl-tRNA synthetase 2 | IARS2 | 612801 |
| Leucyl-tRNA synthetase 2 | LARS2 | 604544 |
| Methionyl-tRNA synthetase 2 | MARS2 | 609728 |
| Phenylalanyl-tRNA synthetase 2 | FARS2 | 611592 |
| Prolyl-tRNA synthetase 2 | PARS2 | 612036 |
| Seryl-tRNA synthetase 2 | SARS2 | 612804 |
| Threonyl-tRNA synthetase 2 | TARS2 | 612805 |
| Tryptophanyl-tRNA synthetase 2 | WARS2 | 604733 |
| Tyrosyl-tRNA synthetase 2 | YARS2 | 610957 |
| Valyl-tRNA synthetase 2 | VARS2 | 612802 |
Aminoacyl tRNA synthetases (Cytoplasmatic) (DNA)
| Name | Gene | OMIM |
|---|---|---|
| Alanyl-tRNA synthetase 1 | AARS1 | 601065 |
| Arginyl-tRNA synthetase 1 | RARS1 | 107820 |
| Asparaginyl-tRNA synthetase 1 | NARS1 | 108410 |
| Aspartyl-tRNA synthetase 1 deficiency / Hypomyelinisation with brainstem and spinal cord involvement and leg spasticity "HBSL" | DARS1 | 615281 |
| Cysteinyl-tRNA synthetase 1 | CARS1 | 123859 |
| Glutamyl-Prolyl-tRNA synthetase 1 | EPRS1 | 138295 |
| Glutaminyl-tRNA synthetase 1 | QARS1 | 603727 |
| Glycyl-tRNA synthetase 1 | GARS1 | 600287 |
| Histidyl-tRNA synthetase 1 | HARS1 | 142810 |
| Isoleucyl-tRNA synthetase 1 | IARS1 | 600709 |
| Leucyl-tRNA synthetase 1 | LARS1 | 151350 |
| Lysyl-tRNA synthetase 1 | KARS1 | 601421 |
| Phenylalanyl-tRNA synthetase, alpha subunit | FARSA | 602918 |
| Phenylalanyl-tRNA synthetase, beta subunit | FARSB | 609690 |
| Seryl-tRNA synthetase 1 | SARS1 | 607529 |
| Threonyl-tRNA synthetase 1 | TARS1 | 187790 |
| Tryptophanyl-tRNA synthetase 1 | WARS1 | 191050 |
| Tyrosyl-tRNA synthetase 1 | YARS1 | 603623 |
| Valyl-tRNA synthetase 1 | VARS1 | 192150 |
Aminoacyl tRNA synthetases (related) (DNA)
| Name | Gene | OMIM |
|---|---|---|
| Aminoacyl-tRNA synthetase complex-interactive multifunctional protein 1 | AIMP1 | 603605 |
| Aminoacyl-tRNA synthetase complex-interactive multifunctional protein 2 | AIMP2 | 600859 |
| D-tyrosyl-tRNA deacylase | DTD1 | 610996 |
| Eukaryotic translation elongation factor epsilon | EEF1E1 | 609206 |
| Threonyl-tRNA synthetase-like 2 | TARSL2 |
Carbohydrate metabolism and transport (DNA)
| Name | Gene | OMIM |
|---|---|---|
| Fructokinase/ Ketohexokinase deficiency | KHK | 229800 |
| Fructose intolerance, hereditary | ALDOB | 229600 |
| Fructose-1,6-biphosphatase-1 deficiency | FBP1 | 229700 |
| Galactokinase deficiency | GALK1 | 230200 |
| Galactosemia | GALT | 230400 |
| Galactosemia type 4 | GALM | 618881 |
| Glucose transporter 1 (GLUT1) deficiency | SLC2A1 | 606777 |
| Glucose-6-phosphate dehydrogenase deficiency | G6PD | 300908 |
| Glycogen storage disease type IV | GBE1 | 232500 |
| Glycogen storage disease type VII (Tauri) | PFKM | 232800 |
| Glycogen storage disease type 0 | GYS2 | 240600 |
| Phosphoglycerate mutase deficiency, muscle | PGAM2 | 261670 |
| Ribose 5-phosphate isomerase deficiency | RPIA | 180430 |
| Sedoheptulokinase deficiency | SHPK | 617213 |
| Transaldolase deficiency | TALDO1 | 606003 |
| Transketolase deficiency | TKT | 606781 |
| Triosephosphate isomerase deficiency | TPI1 | 190450 |
Creatine metabolism and transport (DNA)
Cholesterol/Isoprenoïd biosynthesis (DNA)
| Name | Gene | OMIM |
|---|---|---|
| CHILD syndrome | NSDHL | 308050 |
| Conradi-Hünermann-Happle syndrome/CDPX2 | EBP | 302960 |
| Desmosterolosis | DHCR24 | 602398 |
| Greenberg skeletal dysplasia | LBR | 215140 |
| Hyper IgD syndrome/ Mevalon aciduria/ Mevalonic kinase deficiency | MVK | 260920 |
| Lathosterolosis | SC5DL | 607330 |
| Smith-Lemli-Opitz Syndrome | DHCR7 | 270400 |
GABA metabolism (DNA)
Hypophosphatemic rickets (DNA)
Ketolysis defects (DNA)
Lysosomal storage diseases (DNA)
| Name | Gene | OMIM |
|---|---|---|
| Arylsulfatase A deficiency | ARSA | 250100 |
| Galactosialidosis | CTSA | 256540 |
| Glycogen storage disease type II/ Pompe disease | GAA | 232300 |
| GM1-gangliosidosis | GLB1 | 230500 |
| Krabbe disease | GALC | 245200 |
| Lysosomal acid lipase deficiency | LIPA | 278000 |
| Mannosidase, beta A, lysosomal deficiency | MANBA | 609489 |
| Mannosidosis, alpha-, type I en II | MAN2B1 | 248500 |
| Mucolipidosis type IV/ Mucolipin-1 deficiency | MCOLN1 | 252650 |
| Mucopolysacharidose type III/ Sanfilippo type A | SGSH | 252900 |
| Mucopolysaccharidosis type IIIB/ Sanfilippo type B | NAGLU | 252920 |
| Neuraminidase deficiency/ Sialidosis | NEU1 | 608272 |
| Sulfatase modifying factor 1 deficiency/ Multiple sulfatase deficiency | SUMF1 | 272200 |
| Tay-Sachs disease | HEXA | 272800 |
Mitochondrial fatty acid oxidation (DNA)
| Name | Gene | OMIM |
|---|---|---|
| Carnitine-acylcarnitine translocase (CACT) deficiency | SLC25A20 | 212138 |
| Carnitine deficiency, primary/OCTN2 | SLC22A5 | 212140 |
| Carnitine palmitoyltransferase 1 deficiency | CPT1A | 255120 |
| Carnitine palmitoyltransferase 2 deficiency | CPT2 | 600649 |
| Medium-chain acyl-CoA dehydrogenase deficiency | ACADM | 201450 |
| Mitochondrial trifunctional protein deficiency (LCHAD deficiency included) | HADHA | 609015 |
| Mitochondrial trifunctional protein deficiency | HADHB | 609015 |
| Multiple acyl-CoA dehydrogenase deficiency | ETFA | 231680 |
| Multiple acyl-CoA dehydrogenase deficiency | ETFB | 231680 |
| Multiple acyl-CoA dehydrogenase deficiency | ETFDH | 231680 |
| Short-chain acyl-CoA dehydrogenase deficiency | ACADS | 201470 |
| Very long-chain acyl-CoA dehydrogenase deficiency | ACADVL | 201475 |
Neurotransmitter metabolism (DNA)
Organic acidurias (DNA)
| Name | Gene | OMIM |
|---|---|---|
| Acyl-CoA synthetase family, member 3 deficiency | ACSF3 | 614265 |
| Canavan disease | ASPA | 271900 |
| Ethylmalon aciduria (Ethylmalon encephalopathy) | ETHE1 | 602473 |
| Glutaric aciduria type 1 | GCDH | 231670 |
| D-2- and L-2-hydroxyglutaric aciduria/ Mitochondrial citrate transporter | SLC25A1 | 615182 |
| D-2-hydroxyglutaric aciduria and metaphyseal chondromatosis | IDH1 | 147700 |
| D-2-hydroxyglutaric aciduria, type 1 | D2HGDH | 600721 |
| D-2-hydroxyglutaric aciduria, type 2 | IDH2 | 613657 |
| L-2-hydroxyglutaric aciduria | L2HGDH | 236792 |
| 2-Methylbutyryl glycinuria / 2-Methylbutyryl-CoA dehydrogenase deficiency | ACADSB | 610006 |
| 3-Methylglutacon aciduria type 3 / Optic atrophy 3 | OPA3 | 258501 |
| 3-Methylglutaconyl-CoA hydratase deficiency / 3-Methylglutaconic aciduria type I | AUH | 250950 |
| Methylmalonyl-CoA epimerase deficiency | MCEE | 251120 |
| Mitochondrial DNA depletion syndrome 2 | SUCLA2 | 603921 |
| Malonyl-CoA-decarboxylase deficiency | MLYCD | 248360 |
| Methylmalonate semialdehyde dehydrogenase deficiency | ALDH6A1 | 614105 |
| Methylmalonyl CoA mutase deficiency | MMUT | 609058 |
| Propionyl CoA carboxylase alpha subunit deficiency | PCCA | 606054 |
| Propionyl CoA carboxylase beta subunit deficiency | PCCB | 606054 |
| Succinate-CoA ligase | SUCLG1 | 611224 |
Peroxisomal metabolism (DNA)
| Name | Gene | OMIM |
|---|---|---|
| Acyl-CoA oxidase deficiency | ACOX1 | 264470 |
| Complementation analysis | PEX gene unknown | 214100 |
| D-Bifunctional protein (DBP) deficiency | HSD17B4 | 261515 |
| α-methylacyl-CoA racemase | AMACR | 604489 |
| Refsum disease | PEX7 | 614879 |
| Refsum disease | PHYH / PAHX | 266500 |
| Rhizomelic chondrodysplasia punctata type 1 | PEX7 | 215100 |
| Rhizomelic chondrodysplasia punctata type 2 | GNPAT | 222765 |
| Rhizomelic chondrodysplasia punctata type 3 | AGPS | 600121 |
| X-linked adrenoleukodystrophy, X-ALD | ABCD1 | 300100 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) | PEX1 | 602136 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) | PEX2 | 170993 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) | PEX3 | 603164 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) | PEX5 | 600414 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) | PEX6 | 601498 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) | PEX10 | 602859 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) | PEX11β | 603867 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) | PEX12 | 601758 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) | PEX13 | 601789 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) | PEX14 | 601791 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) | PEX16 | 603360 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) | PEX19 | 600279 |
| Zellweger spectrum (Zellweger syndrome, NALD, IRD) | PEX26 | 608666 |
Purine and pyrimidine metabolism (DNA)
| Name | Gene | OMIM |
|---|---|---|
| Adenine phosphoribosyl transferase deficiency | APRT | 102600 |
| Adenosine deaminase deficiency | ADA | 102700 |
| Adenosine deaminase 2 deficiency | ADA2 | 607575 |
| Adenosine kinase deficiency | ADK | 614300 |
| Adenylosuccinate lyase deficiency | ADSL | 103050 |
| Dihydropyrimidinase deficiency | DPYS | 222748 |
| Dihydropyrimidine dehydrogenase deficiency | DPYD | 274270 |
| Hypoxanthine-guanine phosphoribosyltransferase deficiency | HPRT1 | 300322 |
| Inosine triphosphatase deficiency | ITPA | 613850 |
| Phosphoribosyl pyrophosphate synthetase superactivity and deficiency | PRPS1 | 300661 |
| Purine nucleoside phosphorylase deficiency | PNP | 164050 |
| Thymidine phosphorylase deficiency | TYMP | 603041 |
| ß-Ureidopropionase deficiency | UPB1 | 606673 |
Vitamin, co-factor and metal defects (DNA)
| Name | Gene | OMIM |
|---|---|---|
| Brown-Vialetto-Van Laere syndrome, type 1 | SLC52A3 | 211530 |
| Brown-Vialetto-Van Laere syndrome, type 2 | SLC52A2 | 614707 |
| Brown-Vialetto-Van Laere syndrome, type 3 | SLC52A1 | 607883 |
| Ceruloplasmine deficiency / Ferroxidase | CP | 604290 |
| Cytosolic iron-sulfur assembly component | CIAO1 | 604333 |
| Dihydrofolate reductase deficiency | DHFR | 613839 |
| Flavin adenine dinucleotide synthetase (FADS) deficiency | FLAD1 | 255100 |
| Folate malabsorption, hereditary | SLC46A1 | 229050 |
| Folate transport deficiency | FOLR1 | 613068 |
| Gastric intrinsic factor deficiency | GIF | 261000 |
| Holocarboxylase synthetase deficiency | HLCS | 253270 |
| Hypercarotenemia and vitamin A deficiency | BCO1 | 115300 |
| Hyperfenylalaninemia, BH4-deficiency, A | PTS | 261640 |
| Hyperfenylalaninemie, BH4-deficiency, C / Dihydropteridine reductase deficiency | QDPR | 261630 |
| Imerslund-Grasbeck syndrome 2/ Megaloblastic anemia, Norwegian type | AMN | 618882 |
| Methylenetetrahydrofolate dehydrogenase 1 deficiency | MTHFD1 | 601643 |
| Methylenetetrahydrofolate reductase deficiency | MTHFR | 236250 |
| Methylmalonic aciduria and homocysteinemia, cblX type (X-linked) | HCFC1 | 309541 |
| Methylmalonic aciduria and homocystinuria, cblC type | MMACHC | 277400 |
| Methylmalonic aciduria and homocystinuria, cblD type | MMADHC | 277410 |
| Methylmalonic aciduria and homocystinuria, cblF type | LMBRD1 | 277380 |
| Methylmalonic aciduria and homocystinuria, cblJ type | ABCD4 | 614857 |
| Methylmalonic aciduria, vitamin B12 responsive, cblA type | MMAA | 607481 |
| Methylmalonic aciduria, vitamin B12 responsive, cblB type | MMAB | 607568 |
| Methylmalonic aciduria, vitamin B12 responsive, transcobalamin receptor defect | TCbIR | 613646 |
| 5-Methyltetrahydrofolate-homocysteine methyltransferase deficiency, type cblG | MTR | 156570 |
| 5-Methyltetrahydrofolate-homocysteine methyltransferase reductase deficiency, type cblE | MTRR | 602568 |
| Molybdenum cofactor deficiency, type A | MOCS1 | 252150 |
| Molybdenum cofactor deficiency, type B | MOCS2 | 252160 |
| Molybdenum cofactor deficiency, type C | GPHN | 615501 |
| Pyridoxal phosphate binding protein | PLPBP | 617290 |
| Pyridoxamine 5'-phosphate oxidase deficiency | PNPO | 610090 |
| Pyridoxine dependent epilepsy | ALDH7A1 | 266100 |
| Thiamine transporter deficiency | SLC19A3 | 607483 |
| Zinc transporter deficiency/ Acrodermatitis enteropathica | SLC39A4 | 201100 |
Other defects (DNA)
| Name | Gene | OMIM |
|---|---|---|
| Alexander disease | GFAP | 203450 |
| Alkaline phospatase, liver deficiency | ALPL | 146300, 241500, 241510 |
| B-Cell receptor associated protein 31 deficiency | BCAP31 | 300398 |
| Biotinidase deficiency | BTD | 609019 |
| Carbonic anhydrase VA deficiency | CA5A | |
| Chitotriosidase deficiency c.1049_1072dup | CHIT1 | 614122 |
| Collectrin/ Transmembrane protein 27 | TMEM27 | |
| Congenital disorder of glycosylation,CDG type IIh | COG8 | 611182 |
| Galactosyltransferase 1/ Congenital disorder of glycosylation, type IId | B4GALT1 | 607091 |
| Galzuur synthese defect, congenitaal 1 | HSD3B7 | 607764 |
| Hyperoxaluria and nephrolithiasis | SLC26A6 | 610068 |
| Hyperoxaluria type 1 | AGXT | 259900 |
| Hyperoxaluria type 2 | GRHPR | 260000 |
| Hyperoxaluria type 3 | HOGA1 | 613616 |
| Phosphatidylinositol 4-kinase deficiency | PI4KA | 616531 |
| Rhabdomyolysis, acute recurrent | LPIN1 | 268200 |
| Sjögren-Larsson syndrome | ALDH3A2 | 270200 |
| LIPIN 3 | LPIN3 | |
| Majeed syndrome | LPIN2 | 609628 |
| Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities (NEDHSB) /Spermatogenesis-associated protein 5 deficiency | SPATA5 | 616577 |
| Nucleotide-binding protein-like protein deficiency | NUBPL | 613621 |
| Sodium-dependent citrate transporter, member 5 deficiency | SLC13A5 | 615905 |
| Spermine synthase deficiency/ Snyder-Robinson type | SMS | 309583 |