Secuenciación masiva y cribado bioinformático de CNVs, panel de 269 genes: AAAS,AARS2,ABCB7,ABCD1,ABHD12,ABHD5,ACO2,AFG3L2,AHI1,ALG6,ANO10,APTX,ARL13B,ARSA,ASS1,ATAD3A,ATCAY,ATM,ATP13A2,ATP1A2,ATP1A3,ATP2B3,ATP7A,ATP8A2,B4GALNT1,B9D1,BRAT1,C12orf65,C19orf12,C5orf42,CA8,CACNA1A,CACNA1C,CACNA1G,CACNB4,CAMTA1,CAPN1,CASK,CC2D2A,CCDC88C,CEP104,CEP120,CEP290,CEP41,CLCN2,CLN3,CLN5,CLN6,CLN8,CLPP,CNTNAP2,COG5,COQ2,COX10,COX14,COX15,COX20,COX6B1,COX8A,CP,CSF1R,CSPP1,CTBP1,CTDP1,CTSD,CTSF,CWF19L1,CYP27A1,CYP7B1,DARS2,DNAJC19,DNAJC3,DNAJC5,DNMT1,DPM1,EBF3,EEF2,ELOVL4,ELOVL5,ERCC4,EXOSC3,FA2H,FASTKD2,FGF12,FGF14,FLVCR1,FMR1,FOLR1,FTL,FXN,GALC,GAN,GBA2,GFAP,GJC2,GLB1,GLDC,GOSR2,GRID2,GRM1,GRN,HARS,HEXA,HEXB,HIBCH,HSD17B4,HTRA1,IFRD1,INPP5E,ITM2B,ITPR1,KCNA1,KCNA2,KCNC1,KCNC3,KCND3,KCNJ10,KCTD7,KIAA0556,KIAA0586,KIF1A,KIF1C,L2HGDH,LAMA1,LMNB1,LMNB2,LRP4,MARS2,MECP2,MECR,MED13L,MFSD8,MKS1,MME,MPV17,MPZ,MRE11,MTFMT,MTPAP,MTTP,NAGLU,NDUFV1,NKX2-1,NPC1,NPC2,NPHP1,OPA1,OPA3,OPHN1,PANK2,PAX6,PC,PCNA,PDE6D,PDHA1,PDYN,PET100,PEX10,PEX16,PEX6,PEX7,PGK1,PHYH,PIBF1,PIK3R5,PITRM1,PLA2G6,PLD3,PLEKHG4,PLP1,PMM2,PMPCA,PNKP,PNPLA6,POLG,POLR1C,POLR3A,POLR3B,PPT1,PRKCG,PRNP,PRPS1,PSAP,PSEN1,PTRH2,PTS,RNF170,RNF216,RPGRIP1L,RPL10,RRM2B,RUBCN,SACS,SAMD9L,SCARB2,SCN2A,SCN8A,SCO1,SCYL1,SETX,SIL1,SLC16A2,SLC17A5,SLC1A3,SLC20A2,SLC25A46,SLC2A1,SLC52A2,SLC52A3,SLC6A1,SLC9A1,SLC9A6,SNAP25,SNX14,SOX10,SPG11,SPG7,SPR,SPTBN2,SQSTM1,STUB1,SUFU,SUMF1,SURF1,SYNE1,SYT14,TACO1,TANGO2,TBC1D24,TBCE,TCTN1,TCTN2,TCTN3,TDP1,TDP2,TGM6,TMEM138,TMEM216,TMEM231,TMEM237,TMEM240,TMEM67,TPK1,TPP1,TRAPPC11,TRPC3,TSFM,TTBK2,TTC19,TTPA,TTR,TUBB4A,TWNK,UBA5,UCHL1,VAMP1,VARS2,VLDLR,VWA3B,WARS2,WDR73,WDR81,WFS1,WWOX,ZFYVE26,ZMYND11,ZNF423,ZNF592, ADCK3

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Ref: LV4229 Categorías: , , , , , , Enfermedades: Ataxias hereditariasGenes: DPM1, CACNA1G, IFRD1, COX10, PAX6, MKS1, ABHD5, RNF216, TTC19, ELOVL5, POLR3B, CAPN1, COX15, CCDC88C, MRE11A, GRN, PNPLA6, PNKP, TDP1, CP, KIAA0556, CC2D2A, RRM2B, HEXB, GALC, CTDP1, GBA2, ZFYVE26, SLC1A3, OPHN1, PSEN1, UBA5, PIBF1, FTL, L2HGDH, ALG6, SLC9A1, AAAS, CWF19L1, ARSA, ACO2, KIAA0586, ABHD12, DNAJC5, SLC52A3, PDYN, LAMA1, FGF14, DNAJC3, CLN5, ZNF423, FA2H, STUB1, RPGRIP1L, MTFMT, SPG11, CSPP1, TUBB4A, PLD3, BRAT1, EXOSC3, PHYH, C10ORF2, MTPAP, PITRM1, EBF3, GOSR2, B9D1, NAGLU, WFS1, FOLR1, KCNA1, TDP2, PEX7, LMNB1, FGF12, CLCN2, MPV17, SPR, CEP104, MECR, WARS2, SLC2A1, DARS2, CTSD, FASTKD2, TTR, ELOVL4, NPC2, SLC17A5, TCTN3, SIL1, RNF170, PEX16, MED13L, TSFM, PLP1, PEX6, AARS2, CLPP, OPA3, PANK2, COX6B1, PRKCG, TTBK2, CLN6, KCNC1, KIF1C, KIF1A, ASS1, C12ORF65, SYNE1, GFAP, PPT1, ABCB7, KCNC3, PDHA1, C19ORF12, SNAP25, PCNA, ATP8A2, SCO1, HSD17B4, LRP4, SNX14, B4GALNT1, AHI1, CYP27A1, ITM2B, NKX2-1, TACO1, SCN2A, APTX, TTPA, TRPC3, SCARB2, MTTP, VAMP1, POLG, PMM2, PTRH2, AFG3L2, NPC1, PIK3R5, SCYL1, SYT14, NPHP1, SUMF1, RUBCN, CASK, SLC16A2, VLDLR, INPP5E, POLR3A, TMEM138, PTS, ITPR1, SACS, GRID2, GRM1, UCHL1, TMEM237, PDE6D, SLC6A1, PEX10, ATP13A2, CTBP1, ANO10, SQSTM1, TBC1D24, FLVCR1, ADCK3, MFSD8, SLC25A46, COG5, TMEM67, FXN, PMPCA, HTRA1, TPP1, ZNF592, TGM6, ATCAY, EEF2, NDUFV1, TRAPPC11, SLC20A2, VWA3B, TCTN2, CEP120, ARL13B, GLB1, HARS, POLR1C, CAMTA1, PRNP, CYP7B1, COQ2, PC, SPTBN2, CTSF, CNTNAP2, COX8A, LMNB2, WDR73, KCNA2, SAMD9L, KCNJ10, GLDC, COX14, CA8, CLN8, CACNB4, CSF1R, TANGO2, PLA2G6, WWOX, TMEM216, CLN3, PLEKHG4, TPK1, MME, SCN8A, C5ORF42, PSAP, ATAD3A, SPG7, HIBCH, CEP290, GJC2, COX20, TCTN1, TMEM231, TMEM240, DNAJC19, HEXA, PET100, VARS2-2, KCTD7, MARS2, ZMYND11-2, SLC52A2-2, ATP2B3-2, CEP41-2, FMR1-2, MECP2-2, ABCD1-2, RPL10-2, SLC9A6-2, ATP7A-2, PGK1-2, ATP1A3-2, WDR81-2, SURF1-2, TBCE-2, ATM-2, GAN-2, MPZ-2, PRPS1-2, SETX-2, SOX10-2, CACNA1C-2, OPA1-2, DNMT1-2, KCND3-2, ERCC4-2, SUFU-2, ATP1A2-2, CACNA1A-2Plazo de entrega: 49 días