Secuenciación masiva y cribado bioinformático de CNVs, panel de 211 genes: AAAS, AARS1, ABCA1, ABCD1, ABHD12, ACO2, AGRN, AIFM1, ALG14, ALG2, AP1S1, APTX, AR, ARL6IP1, ARSA, ASAH1, ASCC1, ATAD3A, ATL1, ATL3, ATP13A2, ATP1A1, B4GALNT1, BAG3, BICD2, BSCL2, C19orf12, CADM3, CAPN1, CCT5, CHAT, CHCHD10, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CLTCL1, CNTNAP1, COA7, COASY, COL13A1, COLQ, COQ4, COX6A1, CPOX, CTDP1, CTSD, CYP27A1, DARS2, DCTN1, DGUOK, DHH, DHTKD1, DNAJB2, DNM2, DNMT1, DOK7, DPAGT1, DST, DSTYK, DYNC1H1, EGR2, ELP1, EXOSC3, FBLN5, FBXO38, FGD4, FIG4, FLVCR1, GALC, GAN, GARS1, GBA2, GBE1, GBF1, GCLC, GDAP1, GFPT1, GJB1, GJC2, GNB4, GSN, HADHB, HARS1, HINT1, HK1, HOXD10, HSD17B4, HSPB1, HSPB3, HSPB8, IARS2, IBA57, IGHMBP2, INF2, ITPR3, JAG1, KARS1, KIF1A, KIF5A, KLC2, LAMB2, LITAF, LMNA, LRP4, LRSAM1, LYST, MARS1, MCM3AP, MEFV, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, MTRFR, MUSK, MYH14, MYO9A, NAGLU, NDRG1, NDUFA9, NEFH, NEFL, NGF, NLRP3, NTRK1, OPA1, PDK3, PDSS1, PDSS2, PDYN, PEX10, PEX16, PEX7, PHYH, PLA2G6, PLEKHG5, PMM2, PMP2, PMP22, PNKP, PNPLA6, POLG, POLR3B, PRDM12, PREPL, PRPS1, PRX, PSAP, PTRH2, PYROXD1, RAB7A, RAPSN, REEP1, RETREG1, RNASEH1, SACS, SBF1, SBF2, SCN11A, SCN4A, SCN9A, SCP2, SCYL1, SEPTIN9, SETX, SH3TC2, SIGMAR1, SLC12A6, SLC18A3, SLC25A1, SLC25A19, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SNAP25, SORD, SOX10, SPG11, SPTLC1, SPTLC2, STUB1, SUCLA2, SURF1, SYT2, TBC1D24, TBCE, TDP1, TFG, TRIM2, TRIP4, TRPV4, TSFM, TTR, TWNK, TYMP, UBA1, UBA5, VAMP1, VAPB, VCP, VRK1, VWA1, WARS1, WNK1, XK, YARS1

Secuenciación masiva y cribado bioinformático de CNVs, panel de 97 genes: AAAS, ABCD1, ABHD12, ACO2, AMPD2, APTX, ARL6IP1, ARSA, ATAD3A, ATL1, ATL3, ATP13A2, B4GALNT1, BSCL2, C19orf12, CAPN1, CCT5, COASY, COQ4, CPOX, CTDP1, CTSD, CYP27A1, DARS2, DCTN1, DGUOK, DHH, DNMT1, DSTYK, EXOSC3, FBLN5, FBXO38, GALC, GAN, GARS1, GBA2, GBE1, GCLC, GJC2, GSN, HADHB, HINT1, HK1, HSD17B4, HSPB1, HSPB3, HSPB8, IARS2, IBA57, IGHMBP2, KIF1A, KIF5A, KLC2, LYST, MCM3AP, MFN2, MTRFR, MYH14, OPA1, PDSS1, PDSS2, PEX10, PEX16, PEX7, PHYH, PLA2G6, PMM2, PNKP, PNPLA6, POLG, PRX, PSAP, PTRH2, PYROXD1, REEP1, RNASEH1, SCP2, SCYL1, SEPTIN9, SETX, SLC25A46, SLC52A2, SLC52A3, SOX10, STUB1, SUCLA2, TBC1D24, TBCE, TDP1, TFG, TRPV4, TSFM, TTR, TWNK, TYMP, UBA5, XK

Secuenciación Sanger del gen NDP

Detección de deleciones/duplicaciones en el gen NDP mediante MLPA

Secuenciación masiva y cribado bioinformático de CNVs, panel de 11 genes: DGUOK, DNA2, POLG, POLG2, RNASEH1, RRM2B, SLC25A4, TK2, TWNK, TYMP y análisis del genoma mitocondrial

Detección de grandes deleciones y/o duplicaciones en el genoma mitocondrial mediante MLPA

Secuenciación masiva y cribado bioinformático de CNVs, panel de 177 genes: AARS2, ABCA7, ABCD1, ACTB, ADAR, ADCY5, ALS2, ANG, ANO3, ANXA11, APOE, APP, APTX, ARSA, ATP13A2, ATP1A3, ATP6AP2, ATP7B, B4GALNT1, C19orf12, CARS2, CHCHD10, CHCHD2, CHMP2B, CIZ1, CLN3, CLN6, COL4A1, COL6A3, COQ9, CP, CSF1R, CST3, CTSF, CYP27A1, DCTN1, DNAJC5, DNAJC6, DNMT1, DPM1, EARS2, ECHS1, EIF4G1, EPM2A, ERBB4, ERCC4, FBXO7, FIG4, FMR1, FTL, FUS, GBA1, GCH1, GIGYF2, GLDC, GM2A, GNAL, GNAO1, GNB1, GOSR2, GPT2, GRIK2, GRN, HEXA, HNRNPA1, HNRNPA2B1, HPCA, HTRA1, HTRA2, HTT, IRF2BPL, ITM2B, KCNA2, KCNC1, KCTD17, KIF1C, KIF5A, KMT2B, LRRK2, LYST, MAPT, MATR3, MCOLN1, MECP2, MECR, MMACHC, MRE11, MTFMT, NADK2, NEFH, NEK1, NHLRC1, NKX2-1, NOTCH3, NPC1, NPC2, OPTN, PANK2, PARK7, PDGFB, PDGFRB, PDSS2, PFN1, PINK1, PLA2G6, PMPCA, PNKD, POLG, POLR1C, POLR3A, POLR3B, PRKN, PRKRA, PRNP, PRRT2, PSEN1, PSEN2, PTS, RAB39B, RNF216, SCARB2, SCP2, SCYL1, SERAC1, SERPINI1, SETX, SGCE, SIGMAR1, SLC20A2, SLC2A1, SLC6A1, SLC6A3, SLC9A1, SNCA, SNCB, SOD1, SORL1, SPG11, SPR, SQSTM1, STXBP1, SYNJ1, TAF1, TARDBP, TBK1, TENM4, TH, THAP1, TIMM8A, TMEM240, TOR1A, TPK1, TRAPPC11, TREM2, TREX1, TSFM, TTC19, TTR, TUBA4A, TUBB4A, TWNK, TYROBP, UBQLN2, UBTF, UCHL1, VAC14, VAPB, VCP, VPS13A, VPS13C, VPS16, VPS35, WARS2, WDR45, WFS1, XK, XPR1

Secuenciación masiva y cribado bioinformático de CNVs, panel de 3 genes: CACNA1S, KCNJ2, SCN4A

Detección de deleciones/duplicaciones en los genes CACNA1S y SCN4A mediante MLPA

Detección de deleciones/duplicaciones en el gen SPG11 mediante MLPA

Detección de deleciones/duplicaciones en los genes DSP y PKP2 mediante MLPA

Detección de deleciones/duplicaciones en los genes ATL1 y SPAST mediante MLPA

Detección de deleciones/duplicaciones en el gen SPG7 mediante MLPA

Secuenciación Sanger del gen PLP1

Detección de deleciones/duplicaciones en los genes ATL1 y SPAST mediante MLPA

Secuenciación masiva y cribado bioinformático de CNVs, panel de 223 genes: AARS2, ABAT, ABCD1, ABHD12, ABHD16A, ACO2, ADAR, AFG3L2, AHDC1, AIMP1, AIMP2, ALDH18A1, ALS2, AMFR, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ARSA, ARSI, ATL1, ATP11A, ATP13A2, ATP1A2, ATP1A3, ATP2B4, ATP8A2, AUH, B4GALNT1, BSCL2, C19orf12, CACNA1A, CAPN1, CCDC88C, CCT5, CHP1, CLCN2, CLDN11, CNP, COASY, COL4A1, COL4A2, COX6B1, CPT1C, CSF1R, CSNK1D, CTNNB1, CYP27A1, CYP2U1, CYP7B1, DARS1, DARS2, DDHD1, DDHD2, DEGS1, DNA2, DSTYK, EARS2, ECHS1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELP2, ENTPD1, EPRS1, ERLIN1, ERLIN2, EXOSC3, EXOSC8, FA2H, FARS2, FICD, FXN, GAD1, GALC, GAN, GBA2, GFAP, GJC2, GLB1, GLRX5, GM2A, GPT2, GRID2, HACE1, HEXA, HIKESHI, HPDL, HSD17B4, HSPD1, HTRA1, HYCC1, IBA57, IFIH1, KCNA2, KCNK18, KDM5C, KIDINS220, KIF1A, KIF1C, KIF5A, KLC2, KPNA3, LAMB1, L1CAM, L2HGDH, LMNB1, LYST, MAG, MAL, MARS1, MARS2, MECP2, MMADHC, MTPAP, MTRFR, NADK2, NALCN, NFU1, NIPA1, NKX6-2, NOTCH3, NPC1, NPC2, NT5C2, OPA1, OPA3, PANK2, PCDH12, PCYT2, PDHX, PEX16, PGAP1, PI4KA, PLA2G6, PLP1, PNKD, PNPLA6, POLR1A, POLR1C, POLR3A, POLR3B, PRNP, PRRT2, PSAP, PSEN1, PYCR2, RARS1, REEP1, REEP2, RETREG1, RNASEH2A, RNASEH2B, RNASEH2C, RNF170, RNF220, RTN2, SACS, SAMHD1, SCN1A, SCN8A, SCP2, SDHA, SELENOI, SETX, SIL1, SLC16A2, SLC17A5, SLC1A3, SLC1A4, SLC25A15, SLC2A1, SLC33A1, SLC35B2, SOD1, SOX10, SPART, SPAST, SPG11, SPG21, SPG7, SPR, SPTAN1, STUB1, SYNE1, TANGO2, TBCD, TECPR2, TFG, TMEM106B, TMEM163, TMEM63A, TMEM63C, TPK1, TREM2, TREX1, TSEN54, TTC19, TTPA, TTR, TUBB4A, UBAP1, UCHL1, UFM1, VAMP1, VLDLR, VPS11, VPS37A, VWA3B, WARS2, WASHC5, WDR45B, WDR48, WDR81, ZFR, ZFYVE26, ZFYVE27

Detección de deleciones/duplicaciones en los genes APP, PSEN1 y PSEN2 mediante MLPA

Secuenciación Sanger del gen TUBB2B

Secuenciación Sanger del gen TUBA8

Secuenciación Sanger del gen TTR