Detección de la expansión (GAA)n del gen FGF14 (SCA27B) y confirmación mediante TP-PCR

Detección de la expansión CAG del genATXN3 (SCA3)

Detección de la expansión (TGGAA)n del gen BEAN1

Detección de la expansión GGCCTG del gen NOP56

Detección de la inserción (ATTTC)n del gen DAB1

Detección de deleciones/duplicaciones en los genes ATP1A2 y CACNA1A mediante MLPA

Detección de la expansión CAG del gen CACNA1A (SCA6)

Detección de la expansión CAG del gen ATXN7 (SCA7) y confirmación mediante TP-PCR

Detección de la expansión CAG del gen ATXN8OS (SCA8)

Detección de deleciones/duplicaciones en el gen ATM mediante MLPA

Secuenciación masiva y cribado bioinformático de CNVs, panel de 3 genes: ATM, ATR, MRE11

Secuenciación masiva y cribado bioinformático de CNVs, panel de 1 gen: ATM

Secuenciación masiva y cribado bioinformático de CNVs, panel de 9 genes: ATP1A3, CACNA1A, CACNB4, FGF14, KCNA1, PRRT2, SCN2A, SLC1A3, SLC2A1

Secuenciación masiva y cribado bioinformático de CNVs, panel de 20 genes: ABHD12, AFG3L2, ATP13A2, CAPN1, CYP7B1, FA2H, GJC2, KIF1A, KIF1C, MARS2, MTPAP, NKX6-2, PLA2G6, PNPLA6, SACS, SPG7, SYNE1, VAMP1, VPS13D, ZFYVE26

Secuenciación masiva y cribado bioinformático de CNVs, panel de 50 genes: AFG3L2, ANO10, ATP2B3, CACNA1G, CAMTA1, CCDC88C, COQ8A, CWF19L1, DNMT1, EEF2, ELOVL4, ELOVL5, FAT2, FGF14, GRID2, GRM1, ITPR1, KCNA2, KCNC3, KCND3, MME, PDYN, PLD3, PMPCA, PNPLA6, PRDX3, PRKCG, RFC1, RUBCN, SAMD9L, SCYL1, SLC9A1, SLC9A6, SNX14, SPTBN2, STUB1, SYNE1, SYT14, TDP1, TDP2, TGM6, TMEM240, TPP1, TRPC3, TTBK2, UBA5, VPS13D, VWA3B, WWOX, ZNF592

Estudio simultáneo de SCA1, SCA2, SCA3, SCA6 y SCA7 (Expansión tripletes)

Estudio simultáneo de SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA10, SCA12, SCA17, DRPLA y FRDA (Expansión tripletes)

Estudio simultáneo de SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA10, SCA12, SCA17, SCA36 (Expansión tripletes)

Secuenciación masiva y cribado bioinformático de CNVs, panel de 404 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, 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, 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, PNKP, PNPLA6, POLG, POLR1A, POLR1C, POLR3A, POLR3B, POLR3K, PPT1, PRDX3, PRKCG, PRNP, PRPS1, 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, 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, TMEM216, TMEM237, TMEM240, TMEM63A, TMEM63C, TMEM67, TPK1, TPP1, TREM2, TREX1, TRPC3, TSEN54, TSFM, TTBK2, TTC19, TTPA, TTR, TUBB4A, TWNK, UBA5, UCHL1, UFM1, 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

Secuenciación masiva y cribado bioinformático de CNVs, panel de 292 genes: AAAS, AARS2, ABCB7, ABCD1, ABHD12, ACO2, AFG3L2, AHDC1, AHI1, ALDH5A1, ALG6, ANO10, AP5Z1, APTX, ARL13B, ARL3, ARSA, ATAD3A, ATCAY, ATG5, ATG7, ATM, ATP13A2, ATP1A2, ATP1A3, ATP2B3, ATP8A2, AUH, B4GALNT1, B9D1, BRAT1, C19orf12, CA8, CACNA1A, CACNA1G, CACNA2D2, CACNB4, CAMTA1, CAPN1, CASK, CC2D2A, CCDC88C, CEP104, CEP120, CEP290, CEP41, CHCHD10, CHP1, CLCN2, CLN3, CLN5, CLN6, CLN8, CLPP, COA7, COASY, COG5, COQ2, COQ4, COQ8A, COX10, COX14, COX15, COX20, COX6B1, COX8A, CP, CPLANE1, CSF1R, CSPP1, CTBP1, CTDP1, CTSD, CTSF, CWF19L1, CYP27A1, CYP2U1, CYP7B1, DARS2, DNAJC19, DNAJC3, DNAJC30, DNAJC5, DNMT1, DPM1, EBF3, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, ERCC4, EXOSC3, FA2H, FASTKD2, FAT2, FBXL4, FGF12, FGF14, FLVCR1, FMR1, FOLR1, FTL, FXN, GALC, GAN, GBA2, GDAP2, GFAP, GJC2, GLB1, GLDC, GLRX5, GOSR2, GPT2, GRID2, GRM1, GRN, HARS1, HEXA, HEXB, HIBCH, HSD17B4, HTRA1, INPP5E, IRF2BPL, ITPR1, KATNIP, KCNA1, KCNA2, KCNC3, KCND3, KCNJ10, KCTD7, KIF1A, KIF1C, KIF5A, L2HGDH, LAMA1, LMNB1, MARS2, MECP2, MECR, MED13L, MFSD8, MKS1, MMACHC, MMADHC, MME, MPV17, MPZ, MRE11, MTFMT, MTPAP, MTRFR, MTTP, MVK, NADK2, NAGLU, NDUFV1, NKX2-1, NKX6-2, NPC1, NPC2, NPHP1, OPA1, OPA3, OPHN1, PANK2, PC, PCNA, PDE6D, PDHA1, PDHX, PDYN, PET100, PEX10, PEX16, PEX6, PEX7, PGK1, PHYH, PIBF1, PITRM1, PLA2G6, PLD3, PLP1, PMM2, PMPCA, PMPCB, PNKP, PNPLA6, POLG, POLR1C, POLR3A, POLR3B, POLR3K, PPT1, PRDX3, PRKCG, PRNP, PRPS1, PRRT2, PSAP, PTRH2, PTS, PUM1, RFC1, RNF170, RNF216, RPGRIP1L, RPL10, RRM2B, RUBCN, SACS, SAMD9L, SCARB2, SCN2A, SCN8A, SCO1, SCYL1, SDHA, SETX, SIL1, SLC16A2, SLC17A5, SLC1A3, SLC25A15, SLC25A46, SLC2A1, SLC52A2, SLC52A3, SLC9A1, SLC9A6, SNAP25, SNX14, SOX10, SPG11, SPG7, SPR, SPTBN2, SQSTM1, STUB1, SUFU, SUMF1, SURF1, SYNE1, SYT14, TACO1, TANGO2, TBC1D24, TBCE, TCTN2, TDP1, TDP2, TECPR2, TGM6, THG1L, TMEM216, TMEM237, TMEM240, TMEM67, TPK1, TPP1, TRPC3, TSFM, TTBK2, TTC19, TTPA, TTR, TUBB4A, TWNK, UBA5, UCHL1, VAMP1, VARS2, VLDLR, VPS13D, VPS41, VWA3B, WARS2, WDR73, WDR81, WFS1, WWOX, XRCC1, ZFYVE26, ZNF423, ZNF592 y análisis del genoma mitocondrial