Código de Prueba: 5486
Código nemónico: No aplica
Actualización vigente el 24/01/2020
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ACTUAL
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Ataxias, panel (138 genes) NGS, sangre total ABCB7, ABHD12, ADCK3, AFG3L2, AHI1, ALAS2, ALG6, AMACR, ANO10, APTX, ARL13B, ARSA, ATCAY, ATM, ATN1, ATP1A3, ATP7B, ATP8A2, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, BEAN1, BTD, C10orf2, CA8, CACNA1A, CACNB4, CCDC88C, CC2D2A, CEP290, CLN5, COQ2, COQ9, CP, CSTB, CYP27A1, DARS2, DDB2, DLAT, DNAJC19, DNAJC5, DNMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, EPM2A, ERCC2, ERCC3, ERCC4, ERCC5, FGF14, FLVCR1, FXN, GALC, GBA, GBE1, GCDH, GCLC, GJB1, GLB1, GOSR2, GPR56, HEXA, HEXB, HPRT1, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIAA0226, L2HGDH, MRE11A, MTPAP, MTTP, NEU1, NHLRC1, NOP56, NPC1, NPC2, NPHP1, OPA1, OPA3, PAX6, PDHX, PDSS1, PDSS2, PDYN, PEX2, PEX7, PEX10, PHYH, PLA2G6, PLEKHG4, PMM2, PNPLA6, POLG, POLH, PPP2R2B, PRICKLE1, PRKCG, RARS2, RELN, RPGRIP1L, SACS, SETX, SIL1, SLC1A3, SLC17A5, SLC5A2, SPG7, SPR, SPTBN2, SYNE1, SYT14, TBP, TDP1, TGM6, TMEM216, TMEM67, TSEN2, TSEN34, TSEN54, TTBK2, TTPA, VLDLR, VPS13A, VRK1, WFS1, WWOX, XPA, XPC, ZNF592 | ATAXIAS HEREDITARIAS · PANEL · NGS Se reduce el estudio de 138 a 75 genes: ABCB7, ABHD12, ACO2, AFG3L2, ANO10, APTX, ATCAY, ATM, ATP8A2, BEAN1, C10orf2, CACNA1A, CACNA1G, CACNB4, CASK, CCDC88C, CLCN2, CLN5, CYP27A1, DNMT1, EEF2, ELOVL4, FGF14, FLVCR1, FMR1, FXN, GOSR2, GRID2, GRM1, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIAA0226, KIF1C, LAMA1, MARS2, MTPAP, OPHN1, PDYN, PEX7, PHYH, PMPCA, PNKP, PNPLA6, POLG, PRKCG, PTF1A, RNF216, SACS, SCN2A, SETX, SIL1, SLC1A3, SLC52A2, SLC9A6, SNX14, SPTBN2, SQSTM1, SYNE1, SYT14, TDP1, TGM6, TPP1, TTBK2, TTC19, TTPA, TUBB4A, TXN2, VAMP1, VLDLR, WFS1, WWOX, ZNF592 |
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