Ziektebeelden
Cerebrale parese
Materiaal
Hoeveelheid
Afnamerecipiënt
Aanvraagformulieren
Acceptatie criteria
Duidelijke vraagstelling en indicatie + WES-toestemmingsformulier
Enkel trioanalyse (index + beide ouders)
Resultaattermijn
6 mnd
Methode
Whole exome sequencing (WES) gevolgd door filtering op genenpanel voor cerebrale parese (WESCP) ism UMC Radboud (sequenering)
Accreditering
Aanvullende informatie
Samenstelling genenpanel (Genenlijst CP_v4):
ACOX1, ACTA2, ADA2, ADAR, ADCY5, ADD3, ADGRG1, AFG3L2, AGAP1, AHI1, AIMP1, AKT3, ALDH3A2, ALDH5A1, ALS2, AMFR, AMPD2, AMT, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, ARFGEF2, ARG1, ARL13B, ARSA, ARX, ASPA, ATAD3A, ATG5, ATG7, ATL1, ATM, ATP1A3, ATP7B, AUTS2, BCKDHA, BCKDHB, BSCL2, BTD, CACNA1A, CAMK4, CAMSAP1, CCDC82, CCND2, CDC40, CDKL5, CEP290, CHKA, CLN3, CNTNAP2, COL4A1, COL4A2, COLGALT1, COPB2, COQ8A, CRADD, CTNNB1, CYP2U1, CYP7B1, DARS1, DBT, DCX, DDC, DDHD1, DDHD2, DGUOK, DLD, DSTYK, DYNC1H1, DYRK1A, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF4A2, ELP2, EML1, EPHB4, ERLIN2, ERMARD, ESAM, F10, FAM126A, FARS2, FBXO31, FH, FLVCR2, FOXC1, FOXG1, FRMD5, GAD1, GALC, GALT, GAMT, GBA, GCH1, GCSH, GEMIN5, GFAP, GJC2, GLB1, GLDC, GLRA1, GM2A, GNAO1, GNB1, GPHN, GRID2, GRIN1, GRIN2B, HECTD4, HEPACAM, HESX1, HEXA, HIKESHI, HPRT1, HSPD1, IFIH1, INTS8, ISG15, ITPR1, JAM3, KANK1, KATNB1, KCNC3, KCNQ2, KDM5C, KIDINS220, KIF1A, KIF1C, KIF2A, KIF5A, KIF5C, KPNA3, L1CAM, L2HGDH, LAMA2, LAMC3, LMBRD2, MACF1, MARS1, MARS2, MCPH1, MECP2, MINPP1, MMUT, MOCS1, MOCS2, MRPS25, MTHFR, MTOR, MTPAP, MTRFR, MTTP, NDE1, NIPA1, NKX2-1, NKX6-2, NOTCH3, NPC1, NPC2, NPHP1, NSRP1, NT5C2, PAFAH1B1, PAK3, PANK2, PCCA, PCCB, PCYT2, PDHA1, PDHX, PHYH, PIK3CA, PITRM1, PLA2G6, PLAA, PLP1, PMM2, PNP, POLG, POLR1C, POLR3A, POLR3B, PPIL1, PPT1, PRDM13, PYCR2, QDPR, RAB11B, RARS1, RASA1, REEP1, RELN, RHOB, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNU7-1.nc, RTN2, SACS, SAMHD1, SCN3A, SCN8A, SELENOI, SEPSECS, SHH, SHQ1, SIX3, SLC16A2, SLC17A5, SLC18A2, SLC19A3, SLC2A1, SLC5A6, SLC6A1, SLC6A5, SPAST, SPG11, SPG7, SPR, SPTBN2, ST3GAL5, STAT2, STING1, STXBP1, SUOX, SURF1, TAF2, TCTN1, TECPR2, TFG, TGIF1, TH, THG1L, TMEM63C, TMX2, TNR, TPP1, TRAPPC12, TREX1, TSEN15, TSEN2, TSEN54, TTI1, TTPA, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, UBE3A, USP18, VLDLR, VPS11, VPS37A, VPS53, WDR62, YY1AP1, ZBTB18, ZC4H2, ZFYVE26, ZIC2