Demande de DPI
Nous ne pouvons traiter une demande de DPI pour une maladie monogénique que si une mutation/un locus pathogène a été identifié(e) chez le patient et/ou son/sa partenaire et si le rapport génétique à ce propos est disponible. Pour l’instant, le Centre de Médecine Génétique (CMG) propose deux sortes d’analyses DPI pour des maladies monogéniques:
- Analyses basées sur le test PCR (pour les affections les plus fréquentes)
- Analyses basées sur la SNP-array (si aucun test PCR n'est disponible)
À la plupart des candidats parents, le CMG peut proposer – à raison d’un délai d’attente court – un DPI basé sur un test existant. Si un test PCR existant ne peut être utilisé ou si une SNP-array n’est pas faisable, il est possible de développer un nouveau test PCR. Cela implique toutefois un temps d’attente plus long.
Aperçu des tests DPI déjà développés (en néerlandais)
| 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 |