| Achondroplasie |
FGFR3 |
100800 |
| Aicardi-Goutieres syndroom, type 1 |
TREX1 |
225750 |
| Alternerende hemiplegie op kinderleeftijd |
ATP1A3 |
614820 |
| Bijnierhypoplasie, congenitale (AHC) |
NR0B1 (DAX1) |
300200 |
| Borst- en ovariumkanker, erfelijk (BRCA1) |
BRCA1 |
604370 |
| Borst- en ovariumkanker, erfelijk (BRCA2) |
BRCA2 |
612555 |
| CADASIL |
NOTCH3 |
125310 |
| Chilblain Lupus, type 1 |
TREX1 |
610448 |
| Coffin-Siris syndroom 4 (Mentale retardatie, autosomaal dominant, type 16) |
SMARCA4 |
614609 |
| Coffin-Siris syndroom 1 (Mentale retardatie, autosomaal dominant, type 12) |
ARID1B |
614562, 135900 |
| Coffin-Siris syndroom 3 (Mentale retardatie, autosomaal dominant, type 15) |
SMARCB1 |
614608 |
| Coffin-Siris syndroom 2 (Mentale retardatie, autosomaal dominant, type 14) |
ARID1A |
614607 |
| Permanente Neonatale Diabetes Mellitus (PNDM ) |
INS |
606176, 125852 |
| Permanente Neonatale Diabetes Mellitus (PNDM ) |
KCNJ11 |
606176, 610582 |
| Permanente Neonatale Diabetes Mellitus (PNDM ) |
GCK |
606176 |
| Dentatorubro-Pallidoluysische Atrofie (DRPLA) |
ATN1 |
125370 |
| Duchenne-Becker spierdystrofie |
DMD |
310200 |
| Ellis-van Creveld syndroom |
EVC |
225500 |
| Emery-Dreifuss, spierdystrofie, X-gebonden |
EMD |
310300 |
| Paragangliomen en/of feochromocytomen |
SDHAF2 |
601650 |
| Paragangliomen en Gastro-Intestinale Stromale Tumoren (GIST, Carney-Stratakis syndroom) |
SDHA |
606864 |
| Hereditaire Multipele Osteochondromen/exostosen |
EXT1 |
133700 |
| Hereditaire Multipele Osteochondromen/exostosen |
EXT2 |
133701 |
| Extreem kleine lengte (dwerggroei) Groeihormoon deficientie Laron syndroom |
GHR |
262500, 604271 |
| Facioscapulohumerale spierdystrofie (FSHD1) |
FSHMD1 |
158900 |
| Facioscapulohumerale spierdystrofie 2 (FSHD2) |
SMCHD1 |
158901 |
| Paragangliomen en/of Feochromocytomen, erfelijke |
MAX |
171300 |
| Filippi syndroom |
CKAP2L |
272440 |
| Hemochromatose, type 1 |
HFE |
235200 |
| Hemofilie A |
F8 |
306700 |
| Hemofilie B |
F9 |
306900 |
| Hemoglobinopathie, a-thalassemie, abn Hb |
HBA1 |
141800 |
| Hemoglobinopathie, b-thalassemie, abn Hb zoals HbS, HbD, HbE, HbC |
HBB |
141900 |
| Hersenbloedingen, erfelijke (HCHWA-D) |
APP |
605714 |
| Huntington disease-like 2 (HDL2) |
JPH3 |
606438 |
| Huntington, ziekte van |
HTT |
143100 |
| Hyperekplexia (familiaire Startle disease) |
SLC6A5 |
149400, 614618 |
| Hyperekplexia (familiaire Startle disease) |
GLRA1 |
138491, 149400 |
| Hyperekplexia (familiaire Startle disease) |
GLRB |
149400, 614619 |
| Hyperparathyreoïdie kaaktumor syndroom (HPT-JT/HRPT2) |
CDC73 |
145001 |
| Hyperproinsulinemia |
INS |
176730, 616214 |
| Hypochondroplasie |
FGFR3 |
146000 |
| Hypokaliëmische periodieke paralyse type 1 |
CACNA1S |
170400 |
| Hypokaliëmische periodieke paralyse type 2 |
SCN4A |
613345 |
| Idiopathische kleine lengte |
SHOX |
300582 |
| Langer mesomele dysplasie |
SHOX |
249700 |
| Leri-Weill dyschondrosteosis (LWD) |
SHOX |
127300 |
| Limb girdle spierdystofie, type R7(alias LGMD2G) |
TCAP |
601954 |
| Limb girdle spierdystofie, type R8 (alias LGMD2H) |
TRIM32 |
254110 |
| Limb girdle spierdystofie, type R9 (alias LGMD2I) |
FKRP |
607155 |
| Limb girdle spierdystofie , type R12 (alias LGMD2L) |
ANO5 |
611307 |
| Limb girdle spierdystofie, type D4/R1 (alias LGMD2A) |
CAPN3 |
253600 |
| Spierdystrofieën Rippling muscle disease (alias LGMD1C) |
CAV3 |
607801, 606072 |
| Limb girdle spierdystofie, type R2 (alias LGMD2B) |
DYSF |
253601 |
| Limb girdle spierdystofie, type R5 (alias LGMD2C, gamma) |
SGCG |
253700 |
| Limb girdle spierdystofie , type R3 (alias LGMD2D, alpha) |
SGCA |
608099 |
| Limb girdle spierdystofie, type R4 (alias LGMD2E, beta) |
SGCB |
604286 |
| Limb girdle spierdystofie, type R6 (alias LGMD2F, delta) |
SGCD |
601287 |
| Lymfoproliferatief syndroom |
XLP |
308240 |
| Lynch Syndroom (HNPCC) |
MLH1 |
609310 |
| Lynch Syndroom (HNPCC) |
PMS2 |
614337 |
| Lynch Syndroom (HNPCC) |
MSH2 (incl. EPCAM) |
120435 |
| Lynch Syndroom (HNPCC) |
MSH6 |
600678, 614350 |
| Marshall-Smith syndroom |
NFIX |
602535 |
| Mediterrane koorts, familiaire (FMF) |
MEFV |
249100 |
| Familiaire Atypical Multiple Mole-Melanoma (FAMMM) (alleen aan te vragen door klinisch geneticus) |
CDKN2A |
155600, 606719 |
| Melanoom, Familial Multiple Mole (alleen aan te vragen door klinisch geneticus) |
CDK4 |
609048 |
| MIDD (Maternally Inherited Diabetes and Deafness) |
mt 3243 tRNA leu/uur |
520000 |
| Migraine, familiaire hemiplegische (FHM), type 1 |
CACNA1A |
141500 |
| Migraine, familiaire hemiplegische (FHM), type 2 |
ATP1A2 |
602481 |
| Miyoshi spierdystrofie 3 |
ANO5 |
613319 |
| Maturity Onset Diabetes of the Young (MODY) type 2 |
GCK |
138079, 125851 |
| Maturity Onset Diabetes of the Young (MODY) type 3 |
HNF1A |
142410, 600496 |
| Maturity Onset Diabetes of the Young (MODY) type 5 |
HNF1B |
137920 |
| Maturity Onset Diabetes of the Young (MODY) type 1 |
HNF4A |
125850 |
| Maturity Onset Diabetes of the Young (MODY) type 4 |
IPF |
600733, 606392 |
| Maturity Onset Diabetes of the Young (MODY) type 10 |
INS |
613370 |
| Maturity Onset Diabetes of the Young (MODY) type 6 |
NEUROD1 |
606394 |
| CARASIL / CADASIL type 2 |
HTRA1 |
600142 |
| Myotonia congenita (Thomsen, Becker) |
CLCN1 |
255700/160800 |
| Myotonia permanens / fluctuans |
SCN4A |
608390 |
| Neuronale ceroid lipofuscinose, laat infantiel adult (Santavuori-Haltia disease) |
PPT1 |
256730 |
| Neuronale ceroid lipofuscinose, laat infantiel/juveniel |
CLN6 |
601780 |
| Neuronale ceroid lipofuscinose, laat infantiel/juveniel |
CLN8 |
600143 |
| Neuronale ceroid lipofuscinose, juveniel (Batten-Spielmeyer-Vogt disease) |
CLN3 |
204200 |
| Neuronale ceroid lipofuscinose, laat infantiel (Jansky-Bielschowsky disease) |
TPP1 |
204500 |
| Nicolaide Baraitser Syndroom (NCBRS) |
SMARCA2 |
601358 |
| Niercelcarcinoom, erfelijk (RCC) |
SDHB |
144700 |
| Paragangliomen en/of Feochromocytomen, erfelijke |
TMEM127 |
171300 |
| Paragangliomen en/of Feochromocytomen, erfelijke |
SDHA |
614165 |
| Paragangliomen en/of Feochromocytomen, erfelijke |
SDHB |
115310 |
| Paragangliomen en/of Feochromocytomen, erfelijke |
SDHC |
605373 |
| Paragangliomen en/of Feochromocytomen, erfelijke |
SDHD |
168000 |
| Paramyotonia congenita |
SCN4A |
168300 |
| Persisterende hyperinsulinemische hypoglykemie (PHHI) |
GCK |
256450, 602485 |
| Persisterende hyperinsulinemische hypoglykemie (PHHI) |
KCNJ11 |
256450, 601820 |
| Peters Plus syndroom |
B3GLCT (B3GALTL) |
261540 |
| Polycysteuze nierziekte, autosomaal dominant (ADPKD) |
PKD2 |
173910 |
| Polycysteuze nierziekte, autosomaal dominant (ADPKD) |
PKD1 |
601313, 173900 |
| Polycysteuze nierziekte, autosomaal recessief (ARPKD) |
PKHD1 |
263200 |
| Polyposis coli, adenomateus (PPAP) |
POLD1 |
612591 |
| Polyposis coli, adenomateus (NAP) |
NTHL1 |
616415 |
| Polyposis coli, adenomateus (FAP) |
APC (incl. GREM1) |
175100 |
| Polyposis coli, adenomateus (MAP) |
MUTYH |
608456 |
| Proportionele (zeer) kleine lengte geisoleerde growth hormone deficiency 1A + 1B |
GH1 |
139250, 262400 |
| Proportionele kleine lengte |
IGF1 |
147440, 608747 |
| Proportionele kleine lengte (intra-uterien en postnataal) |
IGF1R |
270450 |
| Proportionele kleine lengte (intra-uterien en postnataal) |
IGFALS |
615961 |
| Renal cysts and diabetes syndrome (RCAD) |
HNF1B |
137920 |
| Retinale vasculopathie met cerebrale leukodystrofie (RVCL) |
TREX1 |
192315 |
| Rubinstein-Taybi Syndroom (RSTS) |
CREBBP |
180849 |
| Rubinstein-Taybi syndroom (RSTS) |
EP300 |
613684 |
| Schwannomatose |
SMARCB1 |
162091 |
| Sotos syndroom type 1 |
NSD1 |
117550 |
| Sotos syndroom like |
SETD2 |
616831 |
| Sotos syndroom like |
DNMT3A |
615879 |
| Sotos syndroom like (Rahman syndroom) |
HIST1H1E |
617537 |
| Thanatofore dysplasie |
FGFR3 |
187600 |
| Weaver syndroom |
EZH2 |
601573, 27759 |
| Wiskott Aldrich syndroom |
WAS |
300392, 30100 |
| Zeer kleine lengte, gepropotioneerd (dwerggroei) Groei hormoon ongevoeligheid met immunodeficientie |
STAT5B |
604260, 24559 |
| Acromesomele dysplasie. (type maroteaux) |
NPR2 |
602875 |
| grote lengte |
NPR2 |
|
| kleine lengte (geproportioneerd) |
GHSR |
615925 |
| Autosomaal dominante kleine lengte met voorlopende skeletleeftijd |
ACAN |
165800 |
| Multipele epifysaire dysplasie |
COMP |
132400 |
| Pseudoachondroplasie |
COMP |
177170 |
| Hyperkaliëmische periodieke paralyse (HYPP) |
SCN4A |
170500 |
| Episodische ataxie, type 2 |
CACNA1A |
108500 |
| Migraine, familiaire hemiplegische (FHM), type 3 |
SCN1A |
609634 |
| Myoclone dystonie |
SGCE |
159900 |
| Borst- en ovariumkanker, erfelijk |
PALB2 |
114480 |
| Borst- en ovariumkanker, erfelijk |
CHEK2 (d. 1100delC) |
114480 |
| Borst- en ovariumkanker, erfelijk |
BRIP1 |
114480 |
| Borst- en ovariumkanker, erfelijk |
RAD51C |
613399 |
| Borst- en ovariumkanker, erfelijk |
RAD51D |
614291 |
| Clear cell meningeoom (CCM) |
SMARCE1 |
607174 |
| FAMMM (Familial Atypical Multiple Mole-Melanoma) |
POT1 |
615848 |
| FAMMM (Familial Atypical Multiple Mole-Melanoma) |
BAP1 |
614327 |
| Myelo-proliferatieve neoplasie (MPN, somatische mutatie) |
JAK2 (p.Val617Phe) |
254450 |
| Myelo-proliferatieve neoplasie (MPN, somatische mutatie) |
JAK2 (exon 12) en CALR (exon 9) |
254450 |
| Polyposis coli, adenomateus (PPAP) |
POLE |
615083 |
| Polyposis coli, adenomateus (FAP4) |
MSH3 |
617100 |
| Rhabdoid tumor predispositie syndroom (RTPS1) |
SMARCB1 |
609322 |
| Rhabdoid tumor predispositie syndroom (RTPS2) |
SMARCA4 |
613325 |
| Congenitale myasthenia syndroom 11 geassocieerd met acetylcholine receptor deficiëntie (CMS11) |
RAPSN |
616326 |
| Limb girdle type 1A |
MYOT |
609200 |
| Limb girdle type 1B |
LMNA |
613205 |
| Myopathie met stoornissen in het extrapiramidale systeem |
MICU1 |
615673 |
| Cystinurie |
SLC3A1 |
220100 |
| Cystinurie |
SLC7A9 |
220100 |
| Coffin-Siris syndroom 5 |
SMARCE1 |
616938 |
| Pitt-Hopkins syndroom |
TCF4 |
610954 |
| Sotos-like syndroom |
NFIX |
614753 |
| TAR (thrombocytopenia-absent radius) syndroom |
1q21.1 deletie en RBM8A SNP |
274000 |
| Hyper/Hypo-calcemie, familiaire |
CASR |
145980 |
| Keratosis follicularis spinulosa decalvans (KFSD) |
MBTPS2 |
308800 |
| X-gebonden TSH deficiëntie en macroorchidisme |
IGSF1 |
300888 |
| Clear cell meningeoom (CCM) |
SMARCB1 |
601607 |
| Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) |
SMARCA4 |
603254 |
| Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) |
SMARCB1 |
601607 |
| Polyglutamine repeat ziektes |
CACNA1A |
108500 |
| Polyglutamine repeat ziektes |
TBP |
607136 |
| Polyglutamine repeat ziektes |
ATXN1 |
164400 |
| Polyglutamine repeat ziektes |
ATXN7 |
164500 |
| Polyglutamine repeat ziektes |
ATXN2 |
183090 |
| Polyglutamine repeat ziektes |
ATXN3 |
109150 |
| Polyglutamine repeat ziektes |
ATN1 |
125370 |
| FAMMM (Familial Atypical Multiple Mole-Melanoma) |
MITF |
156845 |
| Spierdystrofieën Myofibrillar myopathy |
MYOT |
604103 |
| Spierdystrofieën Emery–Dreifuss muscular dystrophy (EDMD) |
LMNA |
|
| Borst- en ovariumkanker, erfelijk* |
ATM |
607585 |
| Borst- en ovariumkanker, erfelijk* |
BARD1 |
601593 |
| Slow-channel congenitale myasthenie syndroom-4A (CMS4A) type 4A |
CHRNE |
100725 |
| Congenitale myasthenie syndroom-5 (CMS5) type 5 |
COLQ |
603033 |
| Congenitale myasthenie syndroom -9 (CMS9) associated with AChR deficiency type 9 |
MUSK |
601296 |
| Congenitale myasthenie syndroom-10 (CMS10) type 10 |
DOK7 |
610285 |
| Congenitaal myastheen syndroom 11 geassocieerd met acetylcholine receptor deficiëntie (CMS11) type 11 |
RAPSN |
|
| Congenitale myasthenie syndroom-14 (CMS14) type 14 |
ALG2 |
616228 |
| Congenitale myasthenie syndroom-15 (CMS15) type 15 |
ALG14 |
616227 |
| Facioscapulohumerale (FSHD) (Let op: 2 buizen EDTA bloed insturen) type 1 |
Rearrangement chromosoom 4 |
|
| Facioscapulohumerale (FSHD) (Let op: 2 buizen EDTA bloed insturen) type 2 |
SMCHD1 |
|
| Facioscapulohumerale (FSHD) (Let op: 2 buizen EDTA bloed insturen) type 2 |
LRIF1 |
615351 |
| Facioscapulohumerale (FSHD) (Let op: 2 buizen EDTA bloed insturen) type 2 |
DNMT3B |
602900 |
| Hypocalciurische Hypercalcemie, familiaire (FHH) |
CASR |
|
| Hypocalciurische Hypercalcemie, familiaire (FHH) |
GNA11 |
139313 |
| Hypocalciurische Hypercalcemie, familiaire (FHH) |
AP2S1 |
602242 |