Ataxias y paraplejias hereditarias
Secuenciación masiva y cribado bioinformático de CNVs, panel de 411 genes: AAAS, AARS2, ABAT, ABCB7, ABCD1, ABHD12, ABHD16A, ABHD5, ACO2, ACP5, AFG3L2, AHDC1, AHI1, AIMP1, AIMP2, ALDH18A1, ALG6, ALS2, AMFR, AMPD2, ANO10, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APTX, ARL13B, ARL3, ARL6IP1, ARSA, ARSI, ASNS, ATAD3A, ATCAY, ATG5, ATG7, ATL1, ATM, ATP11A, ATP13A2, ATP1A2, ATP1A3, ATP2B3, ATP2B4, ATP8A2, AUH, B4GALNT1, B9D1, BRAT1, BSCL2, C19orf12, CA8, CACNA1A, CACNA1G, CACNA2D2, CACNB4, CAMTA1, CAPN1, CASK, CC2D2A, CCDC88C, CCT5, CEP104, CEP120, CEP290, CEP41, CHP1, CLCN2, CLDN11, CLN3, CLN5, CLN6, CLN8, CLPP, CNP, CNTNAP2, COA7, COASY, COG5, COL4A1, COL4A2, COQ2, COQ4, COQ8A, COX10, COX14, COX15, COX20, COX6B1, COX8A, CP, CPLANE1, CPT1C, CSF1R, CSNK1D, CSPP1, CTBP1, CTDP1, CTNNB1, CTSD, CTSF, CWF19L1, CYP27A1, CYP2U1, CYP7B1, DAB1, DARS1, DARS2, DDHD1, DDHD2, DEGS1, DNA2, DNAJC19, DNAJC3, DNAJC5, DNMT1, DPM1, DSTYK, EARS2, EBF3, ECHS1, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, ELP2, ENTPD1, EPRS1, ERCC4, ERLIN1, ERLIN2, EXOSC3, EXOSC8, FA2H, FARS2, FASTKD2, FAT2, FBXL4, FGF12, FGF14, FICD, FLVCR1, FMR1, FOLR1, FTL, FXN, GAD1, GALC, GAN, GBA2, GDAP2, GFAP, GJC2, GLB1, GLDC, GLRX5, GM2A, GOSR2, GPT2, GRID2, GRM1, GRN, GSX2, HARS1, HEXA, HEXB, HIBCH, HIKESHI, HPDL, HSD17B4, HSPD1, HTRA1, HYCC1, IBA57, IFIH1, IFRD1, INPP5E, ITM2B, ITPR1, KATNIP, KCNA1, KCNA2, KCNC3, KCND3, KCNJ10, KCNK18, KCTD7, KIDINS220, KIF1A, KIF1C, KIF5A, KLC2, KPNA3, L1CAM, L2HGDH, LAMA1, LMNB1, LRP4, LYST, MAG, MAL, MARS1, MARS2, MECP2, MECR, MED13L, MFSD8, MKS1, MMACHC, MMADHC, MME, MPV17, MPZ, MRE11, MTFMT, MTPAP, MTRFR, MTTP, MVK, NADK2, NAGLU, NALCN, NDUFV1, NFU1, NIPA1, NKX2-1, NKX6-2, NOTCH3, NPC1, NPC2, NPHP1, NT5C2, OPA1, OPA3, OPHN1, PANK2, PAX6, PC, PCDH12, PCNA, PCYT2, PDE6D, PDHA1, PDHX, PDYN, PET100, PEX10, PEX16, PEX6, PEX7, PGAP1, PGK1, PHYH, PI4KA, PIBF1, PIK3R5, PITRM1, PLA2G6, PLD3, PLEKHG4, PLP1, PMM2, PMPCA, PNKD, PNKP, PNPLA6, POLG, POLR1A, POLR1C, POLR3A, POLR3B, POLR3K, PPT1, PRDX3, PRKCG, PRNP, PRPS1, PRRT2, PSAP, PSEN1, PTRH2, PTS, PUM1, PYCR2, RARS1, REEP1, REEP2, RFC1, RNASEH2B, RNF170, RNF216, RNF220, RPGRIP1L, RPL10, RRM2B, RTN2, RUBCN, SACS, SAMD9L, SCARB2, SCN1A, SCN2A, SCN8A, SCO1, SCP2, SCYL1, SDHA, SELENOI, SETX, SIL1, SLC16A2, SLC17A5, SLC1A3, SLC1A4, SLC20A2, SLC25A15, SLC25A46, SLC2A1, SLC33A1, SLC35B2, SLC4A4, SLC52A2, SLC52A3, SLC9A1, SLC9A6, SNAP25, SNX14, SOD1, SOX10, SPART, SPAST, SPG11, SPG21, SPG7, SPR, SPTAN1, SPTBN2, SQSTM1, STUB1, STXBP1, SUFU, SUMF1, SURF1, SYNE1, SYNJ1, SYT14, TACO1, TANGO2, TBC1D24, TBCD, TBCE, TCTN2, TDP1, TDP2, TECPR2, TFG, TGM6, THG1L, TMEM106B, TMEM163, TMEM216, TMEM237, TMEM240, TMEM63A, TMEM63C, TMEM67, TPK1, TPP1, TREM2, TREX1, TRPC3, TSEN54, TSFM, TTBK2, TTC19, TTPA, TTR, TUBB4A, TWNK, UBA5, UCHL1, UFM1, USP8, VAMP1, VARS2, VLDLR, VPS11, VPS13D, VPS37A, VPS41, VWA3B, WARS2, WASHC5, WDR45B, WDR48, WDR73, WDR81, WFS1, WWOX, XRCC1, ZFR, ZFYVE26, ZFYVE27, ZMYND11, ZNF423, ZNF592 y análisis del genoma mitocondrial