PANEL DE ATAXIA (NGS SEQUENCING + CNV + REPEAT EXPANSION ANALYSIS)
Código: Z871500
S/12570


Detalle de la prueba
SANGRE (EDTA)
ABCB7, ABHD12, ABHD5, ACADVL, ACO2, AFG3L2, AHI1, ALDH5A1, AMACR, ANO10, AP1S2, APTX, ARL13B, ARL6, ARSA, ATCAY, ATM, ATN1, ATP13A2, ATP1A3, ATP2B3, ATP8A2, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, B9D1, BBS1, BBS12, BEAN1, BSCL2, BTD, C12ORF65, C19ORF12, CA8, CACNA1A, CACNB4, CAMTA1, CASK, CC2D2A, CCDC88C, CEP290, CEP41, CHMP1A, CLCN2, CLN5, CLN6, CLPP, COASY, COQ2, COQ8A, COQ9, COX20, CP, CPLANE1, CSPP1, CWF19L1, CYP27A1, DARS2, DLAT, DNAJC19, DNAJC5, DNMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, EXOSC3, FA2H, FBXL4, FGF14, FLVCR1, FTL, FXN, GALC, GBA, GBA2, GFAP, GJB1, GJC2, GOSR2, GRID2, GRM1, GSS, HEPACAM, HEXB, HIBCH, INPP5E, ITM2B, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIF1A, KIF1C, KIF5A, KIF7, LAMA1, LMNB1, LRPPRC, MARS2, MKS1, MLC1, MRE11, MTFMT, MTPAP, MTTP, NDUFAF6, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFV1, NOP56, NPC1, NPC2, NPHP1, NUBPL, OFD1, OPA1, OPA3, OPHN1, PANK2, PAX6, PDHX, PDSS1, PDSS2, PDYN, PEX10, PEX2, PEX7, PHYH, PLA2G6, PLP1, PNKD, PNKP, PNPLA6, POLG, POLR3A, POLR3B, PPP2R2B, PRICKLE1, PRKCG, PRRT2, RARS2, RPGRIP1L, RRM2B, RUBCN, SACS, SCN2A, SETX, SIL1, SLC16A2, SLC17A5, SLC1A3, SLC20A2, SLC25A46, SLC2A1, SLC52A3, SLC9A6, SPG11, SPG7, SPR, SPTBN2, STUB1, SYNE1, TBP, TCTN2, TGM6, TMEM216, TMEM237, TMEM240, TMEM67, TPP1, TSEN2, TSEN34, TSEN54, TTBK2, TTC19, TTPA, TUBB4A, TWNK, UBA5, VAMP1, VLDLR, VRK1, WDR81, WFS1, WWOX, ZFYVE26 REPEAT EXPANSION GENES : ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, BEAN1, CACNA1A, FXN, NOP56, PPP2R2B, TBP
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