Ziektebeelden

​Cerebrale parese

Materiaal

bloed

Hoeveelheid

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

Afnamerecipiënt

EDTA-tube

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

Ja – UZA-CMG is voor deze analyse ISO 15189 geaccrediteerd door BELAC onder certificaatnummer 419-MED

Aanvullende informatie

​Samenstelling genenpanel (Genenlijst CP_v5):
ADAR, AKT3, AMPD2, AP4B1, ATAD3A, CAMTA1, COQ8A, DBT, DSTYK, EIF2B3, ELOVL1, EMC1, FH, GBA1, GJC2, GNB1, ISG15, MACF1, MTHFR, MTOR, PPT1, PYCR2, SLC2A1, TMEM240, TNR, TSEN15, YY1AP1, ZBTB18, ACTA2, ADD3, ENTPD1, MINPP1, MTPAP, NKX6-2, NT5C2, PHYH, PITRM1, POLR3A, SLC18A2, ATM, BSCL2, CCDC82, CHKA, ESAM, FAR1, HEPACAM, HIKESHI, JAM3, PDHX, RNASEH2C, SLC6A5, SPTBN2, TH, TMX2, TPP1, VPS11, B4GALNT1, CCND2, CEP290, CRADD, EIF2B1, GRIN2B, HECTD4, KIF5A, MARS1, MTRFR, POLR3B, RNU7-1, SCN8A, STAT2, SUOX, TCTN1, TUBA1A, ATP7B, COL4A1, COL4A2, F10, KPNA3, PCCA, RNASEH2B, SACS, SPART, ZIC2, AP4S1, ATL1, BCL11B, DDHD1, DYNC1H1, EIF2B2, EML1, FLVCR2, FOXG1, GALC, GCH1, GPHN, L2HGDH, NKX2-1, NPC2, PNP, TECPR2, TMEM63C, TRMT5, ZFYVE26, AFG2B, AP4E1, FRMD5, HEXA, NIPA1, POLG, SPG11, UBE3A, ADGRG1, AMFR, ARL6IP1, CLN3, FBXO31, GCSH, GNAO1, KATNB1, NDE1, PMM2, SPG7, TUBB3, ACOX1, ALDH3A2, ASPA, GFAP, KIF1C, NSRP1, PAFAH1B1, PCYT2, TSEN54, TUBG1, VPS53, AFG3L2, ASXL3, ELP2, NPC1, TGIF1, ATP1A3, BCKDHA, CACNA1A, COLGALT1, GAMT, KCNC3, KMT2B, MAG, NOTCH3, RAB11B, RNASEH2A, RTN2, TUBB4A, WDR62, AGAP1, ALS2, DARS1, DGUOK, EIF2B4, GAD1, HSPD1, IFIH1, KIDINS220, KIF1A, KIF5C, MARS2, NPHP1, REEP1, RHOB, SCN3A, SELENOI, SIX3, SLC19A3, SLC5A6, SPAST, SPR, ST3GAL5, TRAPPC12, ARFGEF2, FITM2, KCNQ2, PANK2, SAMHD1, TTI1, DYRK1A, ADA2, ARSA, PLA2G6, TUBA8, USP18, ADCY5, AMT, ARL13B, ATG7, BTD, COPB2, CTNNB1, EIF2B5, EIF4A2, GLB1, HESX1, ITPR1, MRPS25, NGLY1, PCCB, PIK3CA, SHQ1, SLC6A1, TFG, TREX1, TSEN2, AIMP1, CYP2U1, GRID2, GSX2, MTTP, QDPR, SEPSECS, CAMK4, GEMIN5, GLRA1, GM2A, KIF2A, LMBRD2, MOCS2, PCDH12, RARS1, RASA1, STING1, THG1L, ABHD16A, AHI1, ALDH5A1, ARG1, ATG5, BCKDHB, CDC40, ERMARD, FARS2, FOXC1, LAMA2, MMUT, MOCS1, POLR1C, PPIL1, PRDM13, RNASET2, SLC17A5, TUBB, TUBB2A, TUBB2B, AP4M1, AP5Z1, ASNS, AUTS2, CNTNAP2, DDC, DLD, EPHB4, HYCC1, RELN, SHH, CYP7B1, DDHD2, ERLIN2, INTS8, MCPH1, TAF2, TTPA, VPS37A, AGTPBP1, CACNA1B, CAMSAP1, EXOSC3, FRRS1L, GALT, GLDC, GRIN1, KANK1, LAMC3, PLAA, SPTAN1, STXBP1, SURF1, TRPM3, VLDLR, AP1S2, ARX, BCAP31, CASK, CDKL5, DCX, DDX3X, HPRT1, KDM5C, L1CAM, MECP2, PAK3, PDHA1, PLP1, SLC16A2, ZC4H2