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 5 genes: CACNA1A, CACNB4, KCNA1, SCN2A, SLC1A3

Secuenciación masiva y cribado bioinformático de CNVs, panel de 7 genes: AFG3L2, KIF1C, MARS2, MTPAP, NKX6-2, SACS, VAMP1

Secuenciación masiva y cribado bioinformático de CNVs, panel de 41 genes: AFG3L2, ANO10, ATP2B3, CACNA1G, CCDC88C, CWF19L1, EEF2, ELOVL4, ELOVL5, FGF14, GRID2, GRM1, IFRD1, ITPR1, KCNC3, KCND3, MME, PDYN, PLD3, PMPCA, PRKCG, RUBCN, SCYL1, SLC9A1, SLC9A6, SNX14, SPTBN2, STUB1, SYNE1, SYT14, TDP1, TDP2, TGM6, TMEM240, TPP1, TRPC3, TTBK2, UBA5, 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 299 genes: AAAS, AARS2, ABCB7, ABCD1, ABHD12, ABHD5, ACO2, AFG3L2, AHDC1, AHI1, 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, CHP1, CLCN2, CLN3, CLN5, CLN6, CLN8, CLPP, CNTNAP2, COA7, COG5, COQ2, COQ4, COQ8A, COX10, COX14, COX15, COX20, COX6B1, COX8A, CP, CPLANE1, CSF1R, CSPP1, CTBP1, CTDP1, CTSD, CTSF, CWF19L1, CYP27A1, CYP2U1, CYP7B1, DAB1, DARS2, DNAJC19, DNAJC3, 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, IFRD1, INPP5E, ITM2B, ITPR1, KATNIP, KCNA1, KCNA2, KCNC3, KCND3, KCNJ10, KCTD7, KIF1A, KIF1C, KIF5A, L2HGDH, LAMA1, LMNB1, LRP4, LYST, 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, PAX6, PC, PCDH12, PCNA, PDE6D, PDHA1, PDHX, PDYN, PET100, PEX10, PEX16, PEX6, PEX7, PGK1, PHYH, PIBF1, PIK3R5, PITRM1, PLA2G6, PLD3, PLEKHG4, PLP1, PMM2, PMPCA, PNKP, PNPLA6, POLG, POLR1C, POLR3A, POLR3B, POLR3K, PPT1, PRDX3, PRKCG, PRNP, PRPS1, PSAP, PSEN1, PTRH2, PTS, PUM1, RFC1, RNF170, RNF216, RPGRIP1L, RPL10, RRM2B, RUBCN, SACS, SAMD9L, SCARB2, SCN2A, SCN8A, SCO1, SCYL1, SDHA, SETX, SIL1, SLC16A2, SLC17A5, SLC1A3, SLC20A2, 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, ZMYND11, ZNF423, ZNF592 y análisis del genoma mitocondrial

Detección de deleciones/duplicaciones en los genes APTX, FXN y SETX mediante MLPA

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

Detección de la expansión CAG en el gen ATN1 (DRPLA)

Detección de la expansión CAG en el gen AR (SBMA)

Secuenciación Sanger del gen OAT

Detección de deleciones/duplicaciones en los genes SMN1 y SMN2 mediante MLPA

Estudio del número de copias en SMN1 y detección del haplotipo de riesgo para portadores silenciosos mediante MLPA (etnia requerida)

Secuenciación masiva y cribado bioinformático de CNVs, panel de 16 genes: AR, ASAH1, ASCC1, ATP7A, BICD2, CHCHD10, DNAJB2, DYNC1H1, IGHMBP2, PLEKHG5, SIGMAR1, TRIP4, TRPV4, UBA1, VAPB, VRK1