Ziektebeelden

Verstandelijke beperking
Mentale retardatie
Ontwikkelingsachterstand

Materiaal

bloed

Hoeveelheid

​2 x 5 ml EDTA bloed of min. 3 µg DNA in een volume van min. 30 µl

Afnamerecipient

EDTA-tube

Acceptatie criteria

​Duidelijke vraagstelling en indicatie.

Enkel trioanalyse (index + beide ouders).

Ingevuld en ondertekend toestemmingsformulier (zie Tab 'Toestemmingsformulieren').

Resultaattermijn

​6 mnd

Methode

​WES gevolgd door filtering op genenpanel voor intellectual disability (WESID) ism UMC Radboud (datageneratie).

Accreditering

Nee

Uitvoerende afdeling

Moleculaire diagnostiek

Aanvullende informatie

​Samenstelling genenpanel (EPID_Gene_Panel.v1): AAAS, AARS1, AASS, ABAT, ABCC9, ABCD1, ABCD4, ABHD16A, ABHD5, ACAD9, ACADS, ACAT1, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ACTL6A, ACTL6B, ACVR1, ACY1, ADAM22, ADAMTS9, ADAR, ADARB1, ADAT3, ADGRG1, ADGRG6, ADK, ADNP, ADPRHL2, ADRA2B, ADSL, AFF2, AFF3, AFF4, AFG3L2, AGA, AGO1, AGO2, AGTR2, AHCY, AHDC1, AHI1, AIFM1, AIMP1, AIMP2, AKT3, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALKBH8, ALMS1, ALX4, AMER1, AMPD2, AMT, ANK2, ANK3, ANKH, ANKRD11, ANKRD17, ANO10, ANTXR1, AP1B1, AP1G1, AP1S1, AP1S2, AP2M1, AP3B1, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, APC2, APTX, ARCN1, ARFGEF1, ARFGEF2, ARG1, ARHGAP31, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARL3, ARL6, ARMC9, ARSA, ARSL, ARV1, ARX, ASAH1, ASH1L, ASL, ASNS, ASPA, ASPM, ASS1, ASXL1, ASXL2, ASXL3, ATAD3A, ATIC, ATL1, ATM, ATN1, ATP1A1, ATP1A2, ATP1A3, ATP2A2, ATP6AP2, ATP6V0A2, ATP6V0C, ATP6V1A, ATP6V1B2, ATP7A, ATP8A2, ATP9A, ATR, ATRX, AUH, AUTS2, AVPR2, B3GALNT2, B3GALT6, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, BAP1, BAZ2B, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCAS3, BCKDHA, BCKDHB, BCKDK, BCL11A, BCL11B, BCOR, BCORL1, BCS1L, BICD2, BICRA, BLM, BMP4, BOLA3, BPTF, BRAF, BRAT1, BRF1, BRPF1, BRSK2, BRWD3, BSCL2, BTD, BUB1, BUB1B, C12ORF4, C12ORF57, C12ORF65, C2CD3, CA2, CA8, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1G, CACNA2D2, CAD, CAMK2A, CAMK2B, CAMK4, CAMTA1, CAPN10, CAPZA2, CARS1, CARS2, CASK, CBL, CBS, CC2D1A, CC2D2A, CCBE1, CCDC115, CCDC174, CCDC22, CCDC47, CCDC78, CCDC88A, CCDC88C, CCND2, CCNK, CDC42, CDC42BPB, CDC6, CDH11, CDH15, CDH2, CDK10, CDK13, CDK19, CDK5RAP2, CDK8, CDKL5, CDON, CELF2, CENPF, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP290, CEP41, CEP57, CEP83, CERS1, CERT1, CHAMP1, CHD1, CHD2, CHD3, CHD4, CHD5, CHD7, CHD8, CHKA, CHKB, CHL1, CHMP1A, CHRNA2, CHRNA4, CHRNB2, CIC, CIT, CKAP2L, CLCN3, CLCN4, CLIC2, CLIP1, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLTC, CNKSR2, CNNM2, CNOT1, CNOT2, CNOT3, CNPY3, CNTNAP2, COA8, COASY, COG1, COG5, COG6, COG7, COG8, COL18A1, COL4A1, COL4A2, COLEC11, COPB1, COPB2, COQ2, COQ4, COQ8A, COQ9, COX10, COX15, COX6B1, CPA6, CPLANE1, CPLX1, CPS1, CPT2, CRADD, CRB2, CRBN, CREBBP, CRPPA, CSDE1, CSF1R, CSNK2A1, CSNK2B, CSPP1, CSTB, CTBP1, CTC1, CTCF, CTDP1, CTNNA2, CTNNB1, CTSA, CTSD, CTSF, CTTNBP2, CUL3, CUL4B, CUX1, CUX2, CWC27, CWF19L1, CXORF56, CYB5R3, CYFIP2, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DAG1, DARS1, DARS2, DBT, DCAF17, DCC, DCHS1, DCPS, DCX, DDB1, DDC, DDHD2, DDOST, DDX11, DDX23, DDX3X, DDX59, DDX6, DEAF1, DEGS1, DENND5A, DEPDC5, DHCR24, DHCR7, DHDDS, DHFR, DHPS, DHTKD1, DHX30, DIAPH1, DIP2B, DIS3L2, DKC1, DLD, DLG3, DLG4, DLL1, DMD, DMPK, DMXL2, DNAJA1, DNAJC12, DNAJC19, DNAJC5, DNM1, DNM1L, DNMT3A, DNMT3B, DOCK3, DOCK6, DOCK7, DOCK8, DOLK, DPAGT1, DPF2, DPH1, DPM1, DPP6, DPYD, DPYS, DYM, DYNC1H1, DYNC1I2, DYRK1A, EARS2, EBF3, EBP, ECHS1, EDEM3, EED, EEF1A2, EEF1B2, EEF2, EFTUD2, EHMT1, EIF2A, EIF2AK1, EIF2AK2, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, EIF4A3, ELAC2, ELOVL4, ELP2, EMC1, EMC10, EML1, EMX2, ENTPD1, EP300, EPG5, EPM2A, EPRS1, ERBB4, ERCC1, ERCC2, ERCC3, ERCC5, ERCC6, ERCC6L2, ERCC8, ERLIN2, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOSC2, EXOSC3, EXOSC5, EXOSC9, EXTL3, EZH2, FA2H, FAM111A, FAM126A, FAM149B1, FAM20C, FAM50A, FANCL, FAR1, FARS2, FAT4, FBN1, FBRSL1, FBXL3, FBXL4, FBXO11, FBXO28, FBXO31, FBXW11, FCSK, FGD1, FGF12, FGF13, FGF14, FGFR1, FGFR2, FGFR3, FH, FIBP, FIG4, FKRP, FKTN, FLNA, FLVCR1, FLVCR2, FMN2, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, FOXP4, FOXRED1, FRA10AC1, FRAS1, FRMPD4, FRRS1L, FSD1L, FTCD, FTO, FTSJ1, FUCA1, FUT8, FZR1, GABBR2, GABRA1, GABRA2, GABRA3, GABRA5, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAD1, GAD2, GALC, GALE, GALNT2, GALT, GAMT, GATAD2B, GATM, GBA, GCDH, GCH1, GCSH, GDF11, GDI1, GFAP, GFER, GFM1, GFM2, GJA1, GJB1, GJC2, GK, GLB1, GLDC, GLI2, GLI3, GLIS3, GLS, GLUD1, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GNAI1, GNAO1, GNAS, GNB1, GNB2, GNB5, GNPAT, GNPTAB, GNPTG, GNS, GOSR2, GOT2, GPAA1, GPC3, GPC4, GPHN, GPSM2, GPT2, GRIA1, GRIA2, GRIA3, GRIA4, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRIPAP1, GRM1, GRM7, GRN, GSS, GTF2E2, GTF2H5, GTPBP2, GTPBP3, GUSB, H1-4, H3-3A, H3-3B, H4C3, HACE1, HADH, HADHA, HAX1, HCCS, HCFC1, HCN1, HCN2, HDAC4, HDAC6, HDAC8, HEATR5B, HECW2, HEPACAM, HERC1, HERC2, HESX1, HEXA, HEXB, HGSNAT, HIBCH, HIVEP2, HK1, HLCS, HMGB1, HMGCL, HNMT, HNRNPH1, HNRNPH2, HNRNPK, HNRNPR, HNRNPU, HOXA1, HPD, HPDL, HPRT1, HRAS, HS2ST1, HSD17B10, HSD17B4, HSPA9, HSPD1, HTRA2, HUWE1, HYLS1, IARS1, IBA57, ICE1, IDH2, IDS, IDUA, IER3IP1, IFIH1, IFT172, IGBP1, IGF1, IGF1R, IGSF1, IKBKG, IL1RAPL1, INPP5E, INPP5K, INTS1, IQSEC1, IQSEC2, IQSEC3, IRF2BPL, IRX5, ITFG2, ITGA7, ITPA, ITPR1, IVD, JAG1, JAM3, JARID2, JMJD1C, KANK1, KANSL1, KARS1, KAT5, KAT6A, KAT6B, KATNB1, KCNA1, KCNA2, KCNA4, KCNB1, KCNC1, KCNC3, KCND3, KCNH1, KCNJ10, KCNJ11, KCNJ6, KCNK4, KCNK9, KCNMA1, KCNN3, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD3, KCTD7, KDM1A, KDM3B, KDM4B, KDM5A, KDM5B, KDM5C, KDM6A, KDM6B, KIAA0586, KIAA1109, KIDINS220, KIF11, KIF14, KIF1A, KIF2A, KIF4A, KIF5C, KIF7, KIFBP, KIRREL3, KLF7, KLHL15, KLHL7, KMT2A, KMT2B, KMT2C, KMT2D, KMT2E, KMT5B, KNL1, KPTN, KRAS, L1CAM, L2HGDH, LAMA1, LAMA2, LAMB1, LAMC3, LAMP2, LARGE1, LARP7, LAS1L, LGI1, LGI4, LIAS, LIG4, LINGO1, LINS1, LMAN2L, LMNB1, LONP1, LRP2, LRPPRC, LSS, LZTFL1, LZTR1, MAB21L1, MAB21L2, MACF1, MADD, MAF, MAG, MAGEL2, MAGT1, MAN1B1, MAN2B1, MAN2C1, MANBA, MAOA, MAP1B, MAP2K1, MAP2K2, MAPK1, MAPK8IP3, MAPKAPK5, MAPRE2, MASP1, MAST1, MAT1A, MBD5, MBOAT7, MBTPS2, MCCC1, MCCC2, MCM3AP, MCOLN1, MCPH1, MDH2, MECP2, MED12, MED13, MED13L, MED17, MED23, MED25, MEF2C, MEGF8, MEIS2, METTL23, METTL5, MFF, MFSD2A, MFSD8, MGAT2, MGP, MICU1, MID1, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MN1, MOCS1, MOCS2, MOGS, MORC2, MOV10, MPDU1, MPDZ, MPLKIP, MRPS22, MRPS34, MSL3, MSMO1, MTFMT, MTHFR, MTO1, MTOR, MTR, MTRR, MVK, MYCN, MYH9, MYO5A, MYT1L, NAA10, NAA15, NAA20, NACC1, NAGA, NAGLU, NALCN, NANS, NARS1, NARS2, NAXD, NBEA, NBN, NCAPD2, NCAPG2, NCDN, NCKAP1, NDE1, NDP, NDST1, NDUFA1, NDUFA11, NDUFA12, NDUFA2, NDUFA6, NDUFAF2, NDUFAF3, NDUFAF5, NDUFAF8, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECAP1, NEDD4L, NEU1, NEXMIF, NF1, NF2, NFASC, NFIA, NFIB, NFIX, NFU1, NGLY1, NHLRC1, NHS, NIPA1, NIPBL, NKAP, NKX2-1, NLGN3, NLGN4X, NONO, NOVA2, NPC1, NPC2, NPHP1, NPRL2, NPRL3, NR1I3, NR2F1, NR4A2, NRAS, NRCAM, NRROS, NRXN1, NSD1, NSD2, NSDHL, NSUN2, NT5C2, NTNG2, NTRK1, NTRK2, NUBPL, NUP62, NUS1, OCLN, OCRL, ODC1, OFD1, OGDHL, OGT, OPHN1, ORC1, OSGEP, OTC, OTUD5, OTUD6B, OTX2, OXR1, P4HTM, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PAK3, PANK2, PARN, PARS2, PAX1, PAX5, PAX6, PAX8, PBX1, PC, PCCA, PCCB, PCDH12, PCDH19, PCGF2, PCNT, PDE4D, PDGFRB, PDHA1, PDHX, PDP1, PDSS1, PDSS2, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGAP2, PGAP3, PGK1, PGM3, PHACTR1, PHF21A, PHF6, PHF8, PHGDH, PHIP, PIDD1, PIGA, PIGB, PIGC, PIGG, PIGH, PIGK, PIGL, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PIGY, PIK3CA, PIK3R2, PLA2G6, PLAA, PLCB1, PLK4, PLP1, PLPBP, PLXNA3, PMM2, PMPCA, PMPCB, PNKP, PNP, PNPLA6, PNPO, POGZ, POLA1, POLG, POLR1D, POLR2A, POLR3A, POLR3B, POLRMT, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PORCN, POU1F1, POU3F2, POU3F3, PPM1D, PPOX, PPP1CB, PPP1R12A, PPP1R15B, PPP1R21, PPP2CA, PPP2R1A, PPP2R5D, PPP3CA, PPT1, PQBP1, PRICKLE1, PRKACA, PRKACB, PRKAR1A, PRKAR1B, PRKD1, PRMT7, PRODH, PRORP, PRPS1, PRR12, PRRT2, PRSS12, PRUNE1, PSAP, PSMD12, PSPH, PTCH1, PTCHD1, PTDSS1, PTEN, PTF1A, PTPN11, PTPN12, PTPN23, PTPN4, PTRH2, PTRHD1, PTS, PUF60, PUM1, PURA, PUS1, PUS3, PUS7, PYCR1, PYCR2, QARS1, QDPR, QRICH1, RAB11B, RAB18, RAB23, RAB27A, RAB39B, RAB3GAP1, RAB3GAP2, RAB40AL, RAC1, RAC3, RAD21, RAF1, RAI1, RALA, RALGAPA1, RALGAPB, RAP1GDS1, RARB, RARS2, RASIP1, RBBP8, RBM10, RBM28, RBPJ, RCBTB1, RECQL4, RELN, RERE, RFT1, RHOBTB2, RIMS2, RIT1, RLIM, RMND1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF125, RNF13, ROGDI, ROR2, RORA, RORB, RPGRIP1L, RPIA, RPL10, RPS6KA3, RRAS2, RRM2B, RSPRY1, RSRC1, RTEL1, RTN4IP1, RTTN, RUBCN, RUSC2, RXYLT1, SALL1, SAMD9, SAMHD1, SATB2, SBDS, SC5D, SCAF4, SCAMP5, SCAPER, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCO1, SCO2, SCYL1, SDCCAG8, SDHA, SDHAF1, SEMA3E, SEMA6B, SEPSECS, SERAC1, SERPINI1, SET, SETBP1, SETD1A, SETD1B, SETD2, SETD5, SGPL1, SGSH, SHANK1, SHANK2, SHANK3, SHH, SHOC2, SHROOM4, SIK1, SIL1, SIN3A, SIN3B, SIX3, SKI, SLC12A2, SLC12A5, SLC12A6, SLC13A5, SLC16A2, SLC17A5, SLC18A2, SLC19A3, SLC1A1, SLC1A2, SLC1A4, SLC25A1, SLC25A12, SLC25A15, SLC25A22, SLC25A24, SLC2A1, SLC32A1, SLC33A1, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC38A3, SLC39A14, SLC39A8, SLC46A1, SLC4A4, SLC6A1, SLC6A17, SLC6A19, SLC6A3, SLC6A8, SLC6A9, SLC7A3, SLC7A5, SLC7A7, SLC9A6, SLC9A7, SMAD4, SMAD6, SMARCA2, SMARCA4, SMARCA5, SMARCB1, SMARCC2, SMARCD1, SMARCD2, SMARCE1, SMC1A, SMC3, SMG8, SMG9, SMO, SMOC1, SMPD1, SMPD4, SMS, SNAP25, SNAP29, SNIP1, SNRPB, SNRPN, SNX14, SOBP, SON, SOS1, SOS2, SOX10, SOX11, SOX2, SOX3, SOX4, SOX5, SOX6, SOX9, SPART, SPAST, SPATA5, SPATA5L1, SPECC1L, SPEN, SPG11, SPOP, SPR, SPRED1, SPRED2, SPTAN1, SPTBN1, SPTBN2, SPTBN4, SPTLC2, SQSTM1, SRCAP, SRD5A3, SREBF1, SRGAP3, SRPX2, SSR4, ST3GAL3, ST3GAL5, STAG1, STAG2, STAMBP, STARD9, STIL, STRA6, STRADA, STT3A, STT3B, STX1B, STXBP1, SUCLA2, SUCLG1, SUFU, SUMF1, SUOX, SUPT16H, SURF1, SUZ12, SVBP, SYN1, SYNCRIP, SYNE1, SYNGAP1, SYNJ1, SYP, SYT1, SYT14, SZT2, TAF1, TAF13, TAF2, TAF6, TANC2, TANGO2, TAOK1, TASP1, TAT, TAZ, TBC1D20, TBC1D23, TBC1D24, TBC1D7, TBCD, TBCE, TBCK, TBL1XR1, TBR1, TBX1, TCF20, TCF4, TCF7L2, TCN2, TCTN2, TCTN3, TDP2, TECPR2, TECR, TELO2, TET3, TFAP2A, TFE3, TGFBR1, TGIF1, TH, THOC2, THOC6, THRB, TIMM50, TIMM8A, TINF2, TK2, TKFC, TKT, TLK2, TMCO1, TMEM165, TMEM216, TMEM218, TMEM222, TMEM231, TMEM237, TMEM240, TMEM67, TMEM70, TMEM94, TMLHE, TMTC3, TMX2, TNIK, TNPO2, TNRC6B, TOE1, TP73 , TPP1, TPP2, TRAF7, TRAIP, TRAK1, TRAPPC11, TRAPPC12, TRAPPC4, TRAPPC6B, TRAPPC9, TREX1, TRIM32, TRIM8, TRIO, TRIP12, TRIT1, TRMT1, TRMT10A, TRPM3, TRPM6, TRRAP, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSPAN7, TSPOAP1, TTC19, TTC37, TTC5, TTC8, TTI2, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP2, TUBGCP4, TUBGCP6, TUSC3, TWIST1, UBA5, UBE2A, UBE3A, UBE3B, UBE4A, UBR1, UBR7, UBTF, UFC1, UFM1, UGDH, UNC80, UPB1, UPF3B, UROC1, USP27X, USP7, USP9X, VAC14, VAMP1, VAMP2, VARS1, VARS2, VLDLR, VPS11, VPS13B, VPS37A, VPS4A, VPS50, VPS53, VRK1, VWA3B, WAC, WARS2, WASF1, WASHC4, WBP11, WDFY3, WDPCP, WDR11, WDR13, WDR19, WDR26, WDR37, WDR4, WDR45, WDR45B, WDR62, WDR73, WDR81, WIPI2 , WWOX, XPA, XRCC4, XYLT1, YAP1, YWHAE, YWHAG, YY1, ZBTB11, ZBTB16, ZBTB18, ZBTB20, ZBTB24, ZC3H14, ZC4H2, ZDHHC16, ZDHHC9, ZEB2, ZFYVE26, ZIC1, ZIC2, ZMIZ1, ZMYM2, ZMYND11, ZNF142, ZNF148, ZNF292, ZNF407, ZNF41, ZNF462, ZNF526, ZNF711, ZNHIT3, ZSWIM6​