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