Ziektebeelden
Ataxie en spastische paraplegie
Materiaal
Hoeveelheid
Afnamerecipiënt
Aanvraagformulieren
Acceptatie criteria
Duidelijke vraagstelling en indicatie + WES-toestemmingsformulier
Resultaattermijn
6 mnd
Methode
Whole exome sequencing (WES) gevolgd door filtering op genenpanel voor ataxie en spastische paraplegie (WESAT) ism UMC Radboud (sequenering)
Accreditering
Aanvullende informatie
Samenstelling van het WESAT panel v4.0 (panel ataxie en spastische paraplegie).
AAAS, ABCB7, ABCD1, ABHD12, ABHD16A, ACER3, ACO2, ADPRHL2, AFG2B, AFG3L2, AIFM1, AIMP1, ALDH18A1, ALDH3A2, ALDH5A1, ALS2, AMFR, AMPD2, ANO10, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APTX, ARG1, ARL6IP1, ARSA, ATCAY, ATG7, ATL1, ATM, ATP13A2, ATP1A3, ATP2B2, ATP2B3, ATP5MC3, ATP6V0A1, ATP7B, ATP8A2, AUH, B4GALNT1, BCAS3, BSCL2, BTD, C19ORF12, CA8, CACNA1A, CACNA1G, CACNA2D2, CAMTA1, CAPN1, CASK, CCT5, CHMP1A, CLCN2, CLN5, CLN6, CLP1, COA7, COASY, COG5, COQ8A, COX20, CPT1C, CTNNB1, CWF19L1, CYP27A1, CYP2U1, CYP7B1, DARS1, DARS2, DDHD1, DDHD2, DHDDS, DNAJC5, DNMT1, DOCK3, EBF3, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL1, ELOVL4, ELOVL5, ENTPD1, ERLIN1, ERLIN2, EXOSC3, EXOSC8, EXOSC9, FA2H, FAR1, FARS2, FAT2, FGF14, FLVCR1, FRMD5, GALC, GBA2, GCH1, GDAP2, GEMIN5, GFAP, GJC2, GLRX5, GOSR2, GPAA1, GPT2, GRID2, GRM1, HACE1, HEXA, HEXB, HIKESHI, HPDL, HSPD1, IBA57, IFRD1, INPP5E, INTS11, IRF2BPL, ITPR1, KCNA1, KCNA2, KCNC3, KCND3, KCNJ10, KCNN2, KDM5C, KIDINS220, KIF1A, KIF1C, KIF5A, KPNA3, L1CAM, LARS2, MAG, MAPK8IP3, MARS1, MARS2, MINPP1, MMACHC, MRE11, MSTO1, MTRFR, MTTP, NAXE, NIPA1, NKX2-1, NKX6-2, NPC1, NPC2, NPTX1, NSRP1, NT5C2, OGDHL, OPA1, OPA3, PCDH12, PCYT2, PDYN, PEX7, PGAP1, PHYH, PI4KA, PLA2G6, PLP1, PMPCA, PMPCB, PNKP, PNPLA6, PNPT1, POLG, POLR3A, POLR3B, PRDM13, PRDX3, PRICKLE1, PRKCG, PTRH2, PUM1, PYCR2, RAB1A, RAB3GAP2, RARS2, REEP1, REEP2, RFC1, RINT1, RNF170, RNF216, RNF220, RNU7-1, RORA, RTN2, RUBCN, SACS, SAMD9L, SCN2A, SCN8A, SCYL1, SELENOI, SEPSECS, SERAC1, SETX, SIL1, SLC16A2, SLC17A5, SLC1A3, SLC1A4, SLC25A15, SLC25A46, SLC33A1, SLC44A1, SLC9A1, SLC9A6, SNAPC4, SNX14, SPART, SPAST, SPG11, SPG21, SPG7, SPTAN1, SPTBN2, SPTSSA, SQSTM1, STUB1, SYNE1, TAF8, TBC1D23, TDP2, TECPR2, TFG, TGM6, THG1L, TMEM240, TMEM63C, TOE1, TPP1, TSEN2, TSEN54, TTBK2, TTC19, TTPA, TUBB4A, UBAP1, UCHL1, VAMP1, VLDLR, VPS13D, VPS41, VPS53, VRK1, WASHC5, WDR45B, WDR73, WDR81, WWOX, ZFYVE26