| ABCA12 |
Harlequin ichthyosis |
details |
| ABCA4 |
Stargardt type 1, ziekte van (STGD1) |
details |
| ABCD1 |
Adrenoleukodystrofie (ALD) |
details |
| ACTA2 |
Familiaal thoracaal aneurisma type 6 |
details |
| ACVRL1 |
Osler-Rendu-Weber syndroom 2 (ORW2) |
details |
| ADA |
Adenosine deaminase deficiëntie, ADA-SCID |
details |
| AGXT |
Hyperoxalurie, primaire, type 1 |
details |
| ALDOB |
Fructose intolerantie, erfelijke |
details |
| ALG6 |
Congenitaal defect van glycosylatie type Ic |
details |
| ALG8 |
Congenitaal defect van glycolysatie type Ih |
details |
| APC |
Adenomateuze polyposis van het colon (APC) |
details |
| AR |
Androgeen insensitiviteitssyndroom (AIS) |
details |
| AR |
Kennedy, ziekte van |
details |
| ARSA |
Metachromatische leukodystrofie |
details |
| ARSE |
Chondrodysplasia Punctata 1 (CDPX1) |
details |
| ASPA |
Canavan, ziekte van |
details |
| ATL1 |
Spastische paraplegie 3A |
details |
| ATM |
Ataxia-telangiectasia (AT) |
details |
| ATRX |
ATR-X (alpha-thalassemie met mentale retardatie, X-gebonden) |
details |
| ATXN1 |
Spinocerebellaire ataxie 1 (SCA1) |
details |
| ATXN7 |
Spinocerebellaire ataxie 7 (SCA7) |
details |
| BEST1 |
Vitreoretinochoroidopathie, VRCP |
details |
| BMPR1A |
Juveniel polyposis syndroom (JPS) -BMPR1A |
details |
| BRCA1 |
Borst-ovarium kanker 1, familiaal, vatbaarheid voor (BROVCA1) |
details |
| BRCA2 |
Borst-ovarium kanker 2, familiaal, vatbaarheid voor (BROVCA2) |
details |
| BSCL2 |
Neuropathie, distale erfelijke motorische, type V (HMN5) |
details |
| C3 |
Hemolytisch uremisch syndroom, atypisch, vatbaarheid voor, 5 (AHUS5) |
details |
| C9ORF72 |
Frontotemporale dementie en/of amyotrofe laterale sclerose |
details |
| CACNA1A |
Spinocerebellaire ataxie 6 (SCA6) |
details |
| CACNL1S |
Hypokaliëmische periodieke paralyse (HOKPP1) - CANL1S |
details |
| CD40LG |
Immunodeficiëntie met Hyper IgM, type 1 (HIGM1) |
details |
| CD40LG + HLA |
Hyper IgM syndroom |
details |
| CDKN1C |
Beckwith-Wiedemann syndroom (BWS) |
details |
| CEP290 |
Leber congenitale amaurosis type 10 (LCA10) |
details |
| CFTR |
Mucoviscidose / cystische fibrose / taaislijmziekte (CF) |
details |
| CHEK2 |
Li-Fraumeni syndroom 2 (LFS2) |
details |
| CHM |
Choroideremie (CHM) |
details |
| CLCN5 |
Nefrolithiase type 2 (NPHL2), ziekte van Dent |
details |
| CNGB3 |
Achromatopsie type 3 (ACHM3) |
details |
| COL10A1 |
Metaphyseal Chondrodysplasia, Schmid type (MCDS) |
details |
| COL11A1 |
Stickler syndroom type II (STL2) |
details |
| COL1A1 |
Osteogenesis Imperfecta type 1 |
details |
| COL1A2 |
Osteogenesis Imperfecta type 1 |
details |
| COL1A2 |
Osteogenesis Imperfecta type 3 |
details |
| COL2A1 |
Spondyloepifysaire dysplasie, congenitale (SEDC) |
details |
| COL2A1 |
Stickler syndroom type I (STL1) |
details |
| COL2A1 |
Achondrogenesis type 2 (ACG2) |
details |
| COL2A1 |
Spondylarthopathy |
details |
| COL3A1 |
Ehlers-Danlos syndroom - COL3A1 |
details |
| COL4A5 |
Alport syndroom, X-gebonden |
details |
| COL5A1 |
Ehlers-Danlos syndrome type I (EDS-I) |
details |
| COL6A1 |
Ullrich congenitale musculaire dystrofie (UCMD) |
details |
| COL6A1 |
Ziekte van Bethlem, Bethlem myopathie |
details |
| COL7A1 |
Epidermolysis bullosa dystrophica, autosomaal dominante vorm |
details |
| COL7A1 |
Epidermolysis bullosa dystrophica, autosomaal recessieve vorm |
details |
| COX15 |
Leigh syndroom (LS) - COX15 |
details |
| CPS1 |
Carbamoyl phosphate synthase I deficientie |
details |
| CRB1 |
Leber Congenitale Amaurosis type 8 |
details |
| CXCR4 |
WHIM syndroom |
details |
| CYBB |
Granulomateuze ziekte, chronische, X-gebonden (XCGD) |
details |
| CYBB |
Chronische granulomateuze ziekte, X-gebonden |
details |
| CYLD |
Familiale cylindromatose |
details |
| CYP1B1 |
Glaucoom, primair congenitaal, type 3A (GLC3A) |
details |
| CYP21A2 |
Adrenogenitaal syndroom (21-hydroxylase deficiëntie) |
details |
| DHCR7 |
Smith-Lemli-Opitz syndroom (SLOS) |
details |
| DMD |
Becker musculaire dystrofie (BMD) |
details |
| DMD |
Duchenne musculaire dystrophy (DMD) |
details |
| DMPK |
Ziekte van Steinert, myotone dystrofie. |
details |
| EBP |
Conradi-Hunermann syndroom, X-gebonden chondrodysplasia Punctata 1 (CDPX1) |
details |
| EDA |
Ectodermale dysplasie 1, hypohidrotische, X-gebonden (XHED) |
details |
| EFNB1 |
Craniofrontonasaal syndroom |
details |
| EMD |
Emery-Dreifus spierdystrofie |
details |
| ENG |
Osler-Rendu-Weber, ziekte van (HHT1) |
details |
| ETFDH |
Glutaaracidurie II (GA II) |
details |
| EXT1 |
Multiple exostosen (EXT1) |
details |
| EXT2 |
Multiple exostosen (EXT2) |
details |
| EYA1 |
Branchio-oto-renaal syndroom (BOR1) |
details |
| F8 |
Hemofilie A (HEMA), bloederziekte |
details |
| F9 |
Hemofilie B (HEMB), bloederziekte |
details |
| FANCA |
Fanconi anemie, complementatie groep A (FANCA) |
details |
| FANCA + HLA |
Fanconi anemie, complementatie groep A (FANCA) + HLA |
details |
| FANCC |
Fanconi anemie, complementatie groepC (FANCC) |
details |
| FANCC + HLA |
Fanconi anemie, complementatie groep C (FANCC) + HLA |
details |
| FBN1 |
Marfan syndroom (MFS) |
details |
| FBN2 |
Contractuele arachnodactylie, congenitale (CCA) |
details |
| FGA |
Congenitale afibrinogenemie |
details |
| FGFR2 |
Crouzon syndroom |
details |
| FGFR2 |
Lacrimoauriculodentodigitaal syndroom (LADD) |
details |
| FGFR2 |
Pfeiffer syndroom (PS) |
details |
| FGFR3 |
Achondroplasie (ACH) |
details |
| FGFR3 |
Muenke syndroom |
details |
| FLNA |
Frontometaphysaire dysplasie (FMD) |
details |
| FLNA |
Heterotopie, periventriculaire, X-linked dominant |
details |
| FLNA |
Otopalatodigitaal syndroom, type II (OPD2) |
details |
| FMR1 |
Fragiele-X syndroom |
details |
| FOXL2 |
Blepharophimosis, ptosis en epicanthuis inversus (BPES) |
details |
| GAA |
Glycogeen stapelingsziekte II, ziekte van Pompe |
details |
| GALC |
Ziekte van Krabbe |
details |
| GALNS |
Mucopolysaccharidosis type IVA / Morquio syndroom A |
details |
| GALT |
Galactosemie, GALT deficiëntie |
details |
| GCDH |
Glutaaracidurie type I |
details |
| GCH |
Dopa responsieve dystonie (DRD) / Segawa syndroom |
details |
| GFM1 |
Gecombineerde deficiëntie van oxidatieve phosporylatie 1 |
details |
| GJB1 |
Charcot-Marie-Tooth, ziekte van, X-linked dominant, 1 (CMTX1) |
details |
| GJB2 |
Doofheid, autosomaal recessief 1A |
details |
| GLA |
Fabry, ziekte van |
details |
| GLB1 |
GLB1 deficiëntie |
details |
| GLDC |
Glycine encephalopathie |
details |
| GNAS |
Pseudohypoparathyroidie, type 1A (PHP1A) |
details |
| GNPTAB |
Mucolipidose II alfa/beta (MLII) |
details |
| GRN |
GRN gerelateerde frontotemporale dementie |
details |
| GUCY2D |
Leber Congenitale Amaurosis 1 (LCA1) |
details |
| GUCY2D |
Retinale kegel- en staafjesdystrofie, type 6 |
details |
| GUSB |
Mucopolysaccharidose type 7 |
details |
| HADH |
3-Hydroxyacyl-CoA dehydrogenase deficiëntie /HADH deficiëntie |
details |
| HADHA |
Long-chain 3-hydroxyl-CoA dehydrogenase deficiëntie / LCHAD deficiëntie |
details |
| HBB |
Beta-thalassemie |
details |
| HBB |
Sikkelcelanemie |
details |
| HBB + HLA |
Beta-thalassemie, b-thalassemie |
details |
| HBB + HLA |
Sikkelcelanemie |
details |
| HEXA |
Ziekte van Tay-Sachs |
details |
| HLA |
HLA-typering |
details |
| HNF1B |
Niercysten en diabetes syndroom (RCAD) |
details |
| HSPB8 |
Neuronopathie, erfelijke distale motorische (HMN2A) |
details |
| HTT |
Ziekte van Huntington |
details |
| HTT (exclusion) |
Ziekte van Huntington, exclusie testing |
details |
| IKBKG |
Incontinentia Pigmenti (IP) |
details |
| IL12RB1 |
Atypische mycobacteriosis, familiale |
details |
| IRF6 |
Popliteal Pterygium Syndroom |
details |
| IRF6 |
Van Der Woude Syndroom (VWS1) |
details |
| JAG1 |
Alagille syndroom |
details |
| KCNH2 |
Long QT syndroom 2 |
details |
| KCNJ1 |
Bartter syndroom type 2 |
details |
| KCNQ1 |
Long QT syndroom 1 (LQT1) |
details |
| KIF21A |
Congenitale fibrose van extraoculaire spieren 1 (CFEOM) |
details |
| KRIT1 |
Cerebral Cavernous Malformations 1 (CCM1) |
details |
| KRT10 |
Epidermolytisch hyperkeratose (EHK) |
details |
| KRT14 |
Epidermolysis bullosa simplex |
details |
| KRT5 |
Epidermolysis bullosa simplex - KRT5 |
details |
| L1CAM |
Hydrocefalie, X-gebonden |
details |
| LAMA2 |
Musculaire dystrofie, congenitaal merosin deficiënte, 1A (MDC1A) |
details |
| LAMB2 |
Pierson syndroom |
details |
| LAMB3 |
Epidermolysis bullosa, junctionaal, Herlitz type |
details |
| LIG4 |
LIG4 syndroom |
details |
| LIG4 + HLA |
LIG4 syndroom |
details |
| LMNA |
Cardiomyopathie, gedilateerde, 1A (CMD1A) |
details |
| LMNA |
Emery-Dreifus musculaire dystrofie 2 (EMD2) |
details |
| LMX1B |
Nail patella syndroom |
details |
| MFN2 |
Charcot-Marie-Tooth syndroom type 2A2 (CMT2A2) |
details |
| MID1 |
Opitz GBBB syndroom, X-gebonden |
details |
| MLH1 |
Hereditair nonpolyposis colorectaal carcinoom (HNPCC) |
details |
| MPZ |
Charcot-Marie-Tooth, ziekte van, type 1B (CMT1B) |
details |
| MSH2 |
Lynch syndroom 1 - MSH2 |
details |
| MTM1 |
Myotubulaire myopathie type 1 |
details |
| MYBPC3 |
Cardiomyopathie, familiale hypertrofe, 4 (CMH4) |
details |
| MYH7 |
Cardiomyopathie, familiale hypertrofe, 1 (CMH1) |
details |
| NDUFS4 |
Mitochondriaal complex 1 deficiëntie |
details |
| NF1 |
Neurofibromatose type 1 |
details |
| NF2 |
Neurofibromatose type 2 |
details |
| NOTCH3 |
CADASIL |
details |
| NOTCH3 (exclusion) |
CADASIL exclusie |
details |
| NPHP3 |
Renaal-hepatisch-pancreaire dysplasie |
details |
| NPHS1 |
Nefrotisch syndroom type 1 |
details |
| OBSL1 |
Drie M syndroom type 2 |
details |
| OCA2 |
Albinisme, oculocutaan, type2 (OCA2) |
details |
| OPA1 |
Opticus atrofie type 1, autosomaal dominant |
details |
| OTC |
Ornithine carbamoyltransferase deficiëntie |
details |
| PABPN1 |
Oculopharyngeale musculaire dystrofie (OPMD). |
details |
| PAH |
Fenylketonurie (Phenylketonurie) |
details |
| PAX2 |
Renal-coloboma syndroom |
details |
| PAX3 |
Waardenburg syndroom type 1 |
details |
| PAX6 |
Aniridie |
details |
| PAX6 |
Foveale hypoplasie en preseniel cataract syndroom |
details |
| PEX1 |
Zellweger syndroom (ZS) - PEX1 |
details |
| PEX6 |
Zellweger syndroom (ZS) - PEX6 |
details |
| PEX7 |
Rhizomelic chondrodysplasia punctata type 1 |
details |
| PHEX |
Hypofosfatemische rachitis, X-gebonden dominant |
details |
| PKD1 |
Polycystische nierziekte 1 (PKD1) |
details |
| PKD2 |
Polycystische nierziekte 2 (PKD2) |
details |
| PKHD1 |
Polycystische nierziekte, autosomaal recessieve (ARPKD) |
details |
| PKLR + HLA |
Pyruvaat kinase deficiëntie van rode cellen |
details |
| PKP2 |
Arhitmogene rechter ventriculaire dysplasie, familiale, type 9 |
details |
| PLP1 |
Pelizaeus-Merzbacher, ziekte van (PMD) |
details |
| PMM2 |
Congenitale aandoening van glycosylatie, type IA (CDG1A) |
details |
| PMP22 |
Charcot-Marie-Tooth, ziekte van, type 1A (CMT1A) |
details |
| POLG |
Mitochondriaal DNA depletie syndroom 4A, Alpers type (MTPS4A) |
details |
| PRF1 |
Hemofagocyterende lymfohistiocytose 2 (FHL2) |
details |
| PRNP |
Gerstmann-Straussler syndroom (GSD) |
details |
| PRSS1 |
Hereditaire pancreatitis, Chronische pancreatitis (CP) |
details |
| PTCH1 |
Basaalcel naevus syndroom (BCNS) |
details |
| PTEN |
Cowden syndroom |
details |
| PTPN11 |
Leopard syndroom |
details |
| PTPN11 |
Noonan syndroom |
details |
| QDPR |
QDPR deficiëntie, hyperfenylalaninemie |
details |
| RB1 |
Retinoblastoom, netvlieskanker |
details |
| RECQL4 |
Rothmund-Thompson syndroom |
details |
| REEP1 |
Spastische paraplegie, autosomaal dominant, type 31 |
details |
| RET |
Multiple endocriene neoplasie type II A |
details |
| RFXAP |
Naakte lymphocyten syndroom, type 2. |
details |
| RHD |
Rhesus D incompatibiliteit |
details |
| RMRP |
Metafysaire chondrodysplasie, McKusick type |
details |
| RNASEH2B |
Aicardi-Goutieres syndroom type 2 (AGS2) |
details |
| ROR2 |
Brachydactylie type B1 (BDB1) |
details |
| RP2 |
Retinitis Pigmentosa 2 |
details |
| RPE65 |
Leber congenitale amaurosis 2 (LCA2) |
details |
| RPGR |
Retinitis Pigmentosa 3 (RP3) |
details |
| RPS19 |
Diamond-Blackfananemie type 1 |
details |
| RYR1 |
Central core disease van de spier |
details |
| SCN5A |
Brugada syndroom |
details |
| SDHB |
Cowden syndrome 2 (CWS2) |
details |
| SH3BP2 |
Cherubisme (CRBM) |
details |
| SHH |
Holoprosencefalie 3 (HPE3) |
details |
| SLC26A2 |
Diastrofische dysplasie |
details |
| SMN1 |
Spinale spieratrofie (SMA) |
details |
| SMPD1 |
Ziekte van Niemann-Pick, types A en B |
details |
| SPAST |
Spastische paraplegie 4 |
details |
| STK11 |
Peutz-Jeghers syndroom |
details |
| SURF1 |
Leigh syndroom |
details |
| TAZ |
Barth syndroom |
details |
| TBX5 |
Holt-Oram syndroom |
details |
| TCOF1 |
Treacher Collins syndroom 1 (TCS1) |
details |
| TFAP2A |
Branchiooculofacial syndrome (BOFS) |
details |
| TGFBR1 |
Loeys-Dietz syndrome type 1A |
details |
| TK2 |
Mitochondriaal DNA depletie syndroom 2, myopathische type (MTDPS2) |
details |
| TNNT2 |
Cardiomyopathie, familiale hypertrofe, 2 (CMH2) |
details |
| TOR1A |
Torsie dystonie, autosomaal dominant (DYT1) |
details |
| TP63 |
EEC3 |
details |
| TPB |
Spinocerebellaire ataxie type 17 (SCA17) |
details |
| TPI1 |
Triosefosfaat isomerase deficiëntie |
details |
| TREX1 |
Aicardi-Goutieres syndroom 1 |
details |
| TSC1 |
Tubereuze sclerosis 1 (TSC1) |
details |
| TSC2 |
Tubereuze sclerosis 2 (TSC2) |
details |
| TSEN54 |
Pontocerebellaire hypoplasie type 2A |
details |
| TTR |
Hereditaire amyloidose |
details |
| TWIST1 |
Saethre-Chotzen syndroom (SCS) |
details |
| UBE3A |
Angelman syndroom (AS) |
details |
| UGT1A1 |
Crigler-Najjar syndroom |
details |
| Unknown (D4Z4 repeat) |
Facioscapulohumerale dystrofie 1A |
details |
| VCP |
Frontotemporale dementie (IBMPFD) |
details |
| VHL |
Von Hippel-Lindau syndroom (VHL) |
details |
| VPS13B |
Cohen syndroom (COH) |
details |
| WAS |
Wiskott-Aldrich syndroom (WAS) |
details |
| WAS + HLA |
Wiskott-Aldrich syndroom (WAS) met HLA typering |
details |