Thursday, January 23, 2020

Ataxias, panel (138 genes) NGS, whole blood

Description, Genes Modification

Test code: 5486

Effective update from 24/01/2020



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Ataxias, panel (138 genes) NGS, whole blood      

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     

        
HEREDITARY ATAXIA · PANEL · NGS
     
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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