Neurología

Paneles NGS

Neurología

Ofrecemos diferentes aproximaciones para el diagnóstico genético de diversas enfermedades neurológicas. Nuestra tecnología nos permite hacer estudios secuenciales, ampliando el número de genes a analizar, hasta determinar la causa genética que da lugar a la patología que presenta el paciente.

DESCRIPCIÓN

El término «trastornos del movimiento» se refiere a un grupo de afecciones del sistema nervioso que provocan un aumento de movimientos anormales, que pueden ser voluntarios o involuntarios. Los trastornos del movimiento también pueden provocar movimientos lentos o reducidos. Ofrecemos el estudio de los principales trastornos del movimiento como son las distonías y la enfermedad de Parkinson.

Enfermedad de Parkinson

ATP13A2, COQ2, DNAJC6, FBXO7, GBA, LRRK2, MAPT, PARK7 (DJ1), PINK1, PRKN, PODXL, SLC6A3, SNCA, SYNJ1, VPS13C, VPS35
GBA, LRRK2, PARK7 (DJ1), PINK1, PRKN, SNCA, VPS13C, VPS35
ATP13A2,DJ1, DNAJC6, FBXO7, GBA, PINK1, PODXL, PRKN, SLC6A3, SYNJ1, VPS13C

Trastornos parkinsonianos

ATP6AP2, COQ2, DCTN1, GCH1, LRRK2, LYST, MAPT, NUS1, OPA1, PLA2G6, PTRHD1, RAB39B, SPG11, TWNK, ZFYVE26, SYNJ1, VPS13C

Distonía

ANO3, ADAR, ARSA, ATN1, ATP13A2, ATP1A3, ATP7B, BTD, C19orf12, CBS, CLN3, CLN5, CLN6, CLN8, CP, CTSD, CTSF, D2HGDH, DCAF17, DDO, DNAJC5, ECHS1, FA2H, FOXG1, FUCA1, GALC, GALT, GAMT, GATM, GCDH, GCH1, GLB1, GM2A, GNAL, GNB1, GRN, HPRT1, HTT, JPH3, KCTD7, KMT2B, MCEE, MECP2, MFSD8, MMAA, MMAB, MMADHC, MMUT, NPC1, NPC2, PAH, PANK2, PDGFB, PDGFRB, PLA2G6, PLP1, PNKD, POLG, PPT1, PRKN, PRRT2, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SERAC1, SGCE, SLC19A3, SLC20A2, SLC2A1, SLC30A10, SLC39A14, SLC6A19, SLC6A8, SPR, SUCLA2, TAF1, TH, THAP1, TIMM8A, TOR1A, TPP1, TREX1, TUBB4, VPS13A, WDR45, XK, XPR1
ANO3, GNAL, KMT2B, THAP1, TOR1A, TUBB4
ATP1A3, GCH1, SPR, TAF1, TH.
ADAR, ARSA, ATN1, ATP13A2, ATP7B, BTD, C19orf12, CBS, CLN3, CLN5, CLN6, CLN8, CP, CTSD, CTSF, D2HGDH, DCAF17, DDO, DNAJC5, FA2H, FOXG1, FUCA1, GALC, GALT, GAMT, GATM, GCDH, GLB1, GM2A, GNB1, GRN, HPRT1, HTT, JPH3, KCTD7, MCEE, MECP2, MFSD8, MMAA, MMAB, MMADHC, MMUT, NPC1, NPC2, PAH, PARK2, PANK2, PDGFB, PDGFRB, PLA2G6, PLP1 POLG, PPT1, PRKN, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SERAC1, SLC19A3, SLC20A2, SLC30A10, SLC39A14, SLC6A19, SLC6A8, SUCLA2, TIMM8A, TPP1, TREX1, VPS13A, WDR45, XK, XPR1.

CARACTERÍSTICAS

Tiempo de respuesta: 30-35 días

DESCRIPCIÓN

La demencia es un término general que describe una amplia gama de síntomas asociados con el deterioro de la memoria y otras habilidades del pensamiento, que llegan a reducir la capacidad de una persona de realizar sus actividades diarias. La enfermedad de Alzheimer es responsable de un 60-80% de los casos. Se incluye el estudio de los genes asociados a diferentes tipos de demencia.

APP, APOE (alelo e4), C9orf72, CHCHD10, CHMP2B, FUS, GRN, HNRNPA1, HNRNPA2B1, MAPT, PSEN1, PSEN2, SQSTM1, TARDBP, TBK1, TMEM106B, TREM2, VCP
APP, APOE (alelo e4), C9orf72, GRN, MAPT, PSEN1, PSEN2, TREM2
MAPT, PSEN1, PSEN2, TREM2
C9orf72, CHCHD10, CHMP2B, FUS, GRN, HNRNPA1, HNRNPA2B1, MAPT, PSEN1, SQSTM1, TARDBP, TBK1, TMEM106B, TREM2, VCP

CARACTERÍSTICAS

DESCRIPCIÓN

Las enfermedades neuromusculares son un conjunto de más de 150 afecciones neurológicas, progresivas y crónicas, en su mayoría de origen genético, que provocan la pérdida de fuerza muscular y la degeneración muscular y nerviosa asociada. Mediante los diferentes paneles abordamos el estudio de diversas enfermedades neuromusculares como las neuropatías, miopatías y distrofias musculares, enfermedades con afectación de la motoneurona y síndromes miasténicos así como otros síndromes que cursan con hipotonía, miotonía y/o debilidad.

Enfermedad de las neuronas motoras

AGTPBP1, ALS2, ANG, ANXA11, ATXN2, AR, ASAH1, ASCC1, ATP7A, BICD2, BSCL2, C9ORF72, CCNF,CFAP410, CHCHD10, CHMP2B, DAO, DCTN1, DES, DNAJB2, DYNC1H1, EPHA4, ERBB4, ERLIN2, EXOSC3, EXOSC8, EXOSC9, FBXO38, FIG4, FUS, GARS1, GLE1, GLT8D1, HNRNPA1, HSPB1, HSPB3, HSPB8, IGHMBP2, LAS1L, MATR3, MOBP, MYH14, NAIP, NEFH,NEK1, OPTN, PFN1, PLEKHG5, PON1, PON2, PON3, PPARGC1A, PRPH, REEP1, SCFD1, SEPSECS SETX, SIGMAR1, SLC12A6, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SMN1, SMN2, SOD1, SPG11, SPTLC1, SQSTM1, TAF15, TARDBP, TBCE, TBK1, TREM2, TRIP4, TRPV4, TSEN15, TSEN2, TSEN34, TSEN54, TUBA4A, UBA1, UBQLN2, UNC13A, VAPB, VCP, VRK1, VWA1.
ALS2, ANG, ANXA11, ATXN2, C9orf72, CCNF,CFAP410, CHCHD10, CHMP2B, DAO, DCTN1, EPHA4, ERBB4, FIG4, FUS, GLE1, GLT8D1, HNRNPA1, MATR3, MOBP, NEFH,NEK1, OPTN, PFN1, PON1, PON2, PON3, PPARGC1A, PRPH, SCFD1, SETX, SIGMAR1, SOD1, SPG11, SPTLC1, SQSTM1, TAF15, TARDBP, TBK1, TREM2, TUBA4A, UBQLN2, UNC13A, VAPB, VCP.
C9ORF72, CHCHD10, FUS, SQSTM1, TARDBP, TBK1, VCP.

Neuropatías

AARS1, ABCA1, ABCD1, ABHD12, AGTPBP1, AGXT, AIFM1, AP1S1, APOA1, APTX, AR, ARHGEF10, ARSA, ASAH1, ATL1, ATL3, ATM, ATP1A1, ATP7A, ATXN1, ATXN10, ATXN2, ATXN3, B4GALNT1, BAG3, BCKDHB, BICD2, BSCL2, CADM3, CD59, CHCHD10, CLCF1, CNTNAP1, COA7, COX10, COX6A1, CPOX, CRLF1, CTDP1, CYP27A1, DARS2, DCTN1, DCTN2, DCAF8, DGAT2, DEGS1, DHTKD1, DMXL2, DNAJB2, DNAJC3, DNM2, DNMT1, DRP2, DST, DYNC1H1, EGR2, ELP1, ERCC6, ERCC8, ETFDH, FAH, FAM126A, FBLN5, FBXO38, FGD4, FIG4, FLRT1, FLVCR1, FMR1, FXN, GALC, GAN, GARS1, GBA2, GDAP1, GJB1, GJB3, GJC2, GLA, GNB4, GSN, HADHA, HADHB, HARS1, HEXB, HINT1, HK1, HMBS, HOXD10, HSPB1, HSPB3, HSPB8, IARS2, IBA57, IGHMBP2, INF2, JPH1, KARS1, KCNA2, KIF1A, KIF1B, KIF5A, KLC2, KRT1, LITAF, LMNA, LRSAM1, LYST, MARS1, MCM3AP, MED25, MFN2, MMACHC, MME, MORC2, MPV17, MPZ, MTMR2, MTRFR, MTTP, MYH14, NAGA, NAGLU, NDRG1, NEFH, NEFL, NGF, NOD2, NTRK1, OPA1, OPA3, PDHA1, PDK3, PDYN, PEX10, PEX7, PHYH, PLEKHG5, PLP1, PMM2, PMP2, PMP22, PNKP, PNPLA6, POLG, POLR3A, PPOX, PRDM12, PRKCG, PRNP, PRPS1, PRX, PTRH2, RAB7A, RAI1, REEP1, RETREG1, SACS, SBF1, SBF2, SCARB2, SCN10A, SCN11A, SCN9A, SCO2, SCYL1, SEPTIN9, SETX, SGPL1, SH3TC2, SIGMAR1, SLC12A6, SLC25A19, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SORD, SOX5, SOX10, SPAST, SPTAN1, SPG11, SPG7, SPTLC1, SPTLC2, SUCLA2, SURF1, SYT2, TFG, TRIM2, TRIP4, TRPA1, TRPV4, TTPA, TTR, TUBB3, TYMP, UBA1, VAPB, VCP, VPS13A, VRK1, VWA1, WARS1, WNK1, XRCC1, YARS1, ZFYVE26.
AARS1, ABHD12, AIFM1, ARHGEF10, ATP1A1, ATP7A, BAG3, BICD2, BSCL2, CADM3, CNTNAP1, COA7, COX6A1, CTDP1, DCTN1, DCTN2, DCAF8, DGAT2, DHTKD1, DMXL2, DNAJB2, DNM2, DNMT1, DRP2, DYNC1H1, EGR2, FBLN5, FBXO38, FGD4, FIG4, FLRT1,FXN, GAN, GARS1, GDAP1, GJB1, GJB3, GNB4, HADHB, HARS1, HINT1, HK1, HSPB1, HSPB3, HSPB8, IBA57, IGHMBP2, INF2, KARS1, KIF1B, KIF5A, KLC2, KRT1, LITAF, LMNA, LRSAM1, MARS1, MCM3AP, MED25, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, MTRFR, NAGLU, NDRG1, NEFH, NEFL OPA1, PDK3, PLEKHG5, PMP2, PMP22, PNKP, PRPS1, PRX, PTRH2, RAB7A, RAI1, SBF1, SBF2, SCO2, SCYL1,SETX, SH3TC2, SIGMAR1, SGPL1, SLC12A6, , SLC25A46, SLC52A2, SLC52A3, , SORD, SOX5, SPG11, SPTLC1, SURF1, TFG, TRIM2, TRPV4, VCP, VRK1, VWA1, WARS1, YARS1
AARS, AGTPBP1, ASAH1, ATP7A, BICD2, BSCL2, CHCHD10, DCTN1, DNAJB2, DYNC1H1, FBXO38, GARS, GSN, HARS, HEXB, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, MFN2, MORC2, PLEKHG5, REEP1, SETX, SIGMAR1, SLC52A2, SLC52A3, SLC5A7, SPTAN1, SYT2, TFG, TRIP4, TRPV4, UBA1, VAPB, VRK1, WARS1.
ATL1, ATL3, DNMT1, DST, RETREG1, ELP1, KIF1A, NGF, NTRK1, PRDM12, SCN11A, SCN9A, SPTLC1, SPTLC2, WNK.

Miastenia Congénita

AGRN, AK9, ALG14, ALG2, CHAT, CHD8, CHRNA1, CHRNB1, CHRND, CHRNE, COL13A1, COLQ, DES, DOK7, DPAGT1, GFPT1, GMPPB, LAMA5, LAMB2, LRP4, MACF1, MUSK, MYO9A, PLEC, PREPL, RAPSN, RPH3A, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYT2, TOR1AIP1, UNC13A, VAMP1.

Miopatías

AARS2, ABHD5, ACAD9, ACADM, ACADS, ACADVL, ACTA1, AGK, AGL, AIFM1, ALDOA, AMPD1, AMPD3, ANO5, B3GALNT2, B4GAT1, BCS1L, BIN1, BVES, C1QBP, CACNA1S, CAPN3, CASQ1, CAVIN1, CCDC174, CCDC78, CFL2, CHCHD10, CHKB, CNBP, CNTN1, COL12A1, COL4A1, COL6A1, COL6A2, COL6A3, COQ2, COQ8A, COQ9, COX10, COX15, COX6A2, CPT2, CRPPA, CRYAB, DAG1, DES, DGUOK, DMD, DMPK, DNA2, DNAJB6, DNM2, DNMT3B, DPM2, DPM3, DUX4, DYSF, EARS2, ECHS1, EMD, ENO3, ETFA, ETFB, ETFDH, FARS2, FBXL4, FDX2, FHL1, FKRP, FKTN, FLAD1, FLNC, FOXRED1, FRG1, GAA, GBE1, GFER, GIPC1, GMPPB, GNE, GYG1, GYS1, HACD1, HADHA, HADHB, HNRNPDL, HSPG2, ISCU, ITGA7, KIF21A, KLHL40, KLHL41, LAMA2, LARGE1, LDB3, LDHA, LIG3, LIMS2, LMNA, LMOD3, LPIN1, LTBP4, MAMLD1, MAP3K20, MATR3, MGME1, MICU1, MSTO1, MTM1, MTMR14, MYF6, MYH7, MYL1, MYL2, MYO18B, MYOT, MYPN, NDUFA1, NDUFA11, NDUFA6, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF8, NDUFB10, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NUBPL, ORAI1, PABPN1, PFKM, PGAM2, PGK1, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PHOX2A, PLEC, PNPLA2, PNPLA8, POGLUT1, POLG, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PUS1, PYGM, RBCK1, RNASEH1, RRM2B, RXYLT1, RYR1, SDHA, SDHAF1, SDHB, SDHD, SELENON, SGCA, SGCB, SGCD, SGCG, SLC16A1, SLC22A5, SLC25A32, SMCHD1, SPEG, STAC3, STIM1, SYNE1, SYNE2, TAZ, TCAP, TIA1, TIMMDC1, TK2, TMEM126B, TMEM43, TNNT1, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIP4, TTN, TUBB2B, TUBB3, TWNK, TYMP, VMA21, YARS2
ACTA1, ANO5, B3GALNT2, B4GAT1, BVES, CAPN3, CHKB, CNBP, COL12A1, COL4A1, COL6A1, COL6A2, COL6A3, CRPPA, DAG1, DMD, DMPK, DNAJB6, DNMT3B, DPM2, DPM3, DUX4, DYSF, EMD, FHL1, FKRP, FKTN, FRG1, GIPC1, GMPPB, HNRNPDL, HSPG2, ITGA7, KIF21A, LAMA2, LARGE1, LIMS2, LMNA, LTBP4, MYH7, MYOT, NOTCH2NLC, PABPN1, PHOX2A, PLEC, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RXYLT1, SELENON, SGCA, SGCB, SGCD, SGCG, SMCHD1, SYNE1, SYNE2, TCAP, TMEM43, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TRIP4, TTN, TUBB2B, TUBB3, VMA21
DNMT3B, DUX4, FHL1, FRG1, MYH7, SMCHD1
ANO5, BVES, CAPN3, CRPPA, DAG1, DNAJB6, DYSF, FKRP, FKTN, GMPPB, HNRNPDL, LIMS2, MYOT, PLEC, POGLUT1, POMGNT1, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN.
EMD, FHL1, LMNA, SYNE1, SYNE2, TMEM43, TTN.
ANO5, CAV3, CRYAB, DES, DNAJB6, DYSF, FLNC, GNE, LDB3, MATR3, MYH7, MYOT, NEB, TIA1, TCAP, TTN.
ACTA1, BIN1, CASQ1, CCDC174, CCDC78, CFL2, CNTN1, DNM2, FHL1, HACD1, ITGA7, KLHL40, KLHL41, LMOD3, MAMLD1, MAP3K20, MEFF10, MTM1, MTMR14, MYF6, MYH7, MYL1, MYL2, MYO18B, MYPN, NEB, ORAI1, RYR1, SELENON, SPEG, STAC3, STIM1, TNNT1, TPM2, TPM3, TTN.
ACTA1, CFL2, KLHL40, KLHL41, LMOD3, NEB, TNNT1, TPM2, TPM3.
AARS2, ABHD5, ACAD9, ACADM, ACADS, ACADVL, AGK, AGL, AIFM1, ALDOA, AMPD1, AMPD3, BCS1L, C1QBP, CACNA1S, CASQ1, CAVIN1, CHCHD10, CHKB, COQ2, COQ8A, COQ9, COX10 COX15, COX6A2, CPT2, DGUOK, DNA2, EARS2, ECHS1, ENO3, ETFA, ETFB, ETFDH, FARS2, FBXL4, FDX2, FLAD1, FOXRED1, GAA, GBE1, GFER, GYG1, GYS1, HADHA, HADHB, ISCU, LAMP2, LDHA, LIG3, LPIN1, MGME1, MICU1, MSTO1, NDUFA1, NDUFA11, NDUFA6, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF8, NDUFB10, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL, PFKM, PGAM2, PGK1, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PNPLA2, PNPLA8, POLG, PUS1, PYGM, RBCK1, RNASEH1, RRM2B, SDHA, SDHAF1, SDHB, SDHD, SLC16A1, SLC22A5, SLC25A32, TAZ, TIMMDC1, TK2, TMEM126B, TWNK, TYMP, YARS2.

CARACTERÍSTICAS

Tiempo de respuesta: 30-35 días

DESCRIPCIÓN

Las leucodistrofias representan un grupo heterogéneo de enfermedades hereditarias degenerativas de la mielina cerebral que produce una amplia afectación de la sustancia blanca. Las manifestaciones clínicas son muy variadas, lo que dificulta su diagnóstico. Este estudio comprende el análisis de 72  genes relacionados con diferentes tipos de leucodistrofia.

AARS2, ABCD1, ACER3, ACOX1, ADAR, AIFM1, AIMP1, ALDH3A2, ARSA, ASPA, BCAP31, CLCN2, COA8, CSF1R, CYP27A1, DARS1, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FAM126A, FOLR1, FUCA1, GALC, GBE1, GFAP, GJA1, GJC2, HEPACAM, HIKESHI, HSD17B4, HSPD1, IFIH1, ISCA2, LMNB1, MLC1, MTHFS, NADK2, NDUFA2, NKX6-2, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PLP1, POLR1C, POLR3A, POLR3B, PSAP, RARS1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RPIA, SAMHD1, SCP2, SLC17A5, SOX10, SUMF1, TREM2, TREX1, TUBB4A, TYROBP, UFM1, VPS11

CARACTERÍSTICAS

DESCRIPCIÓN

La paraparesia espástica hereditaria (HSP) comprende un grupo genético y clínicamente heterogéneo de trastornos neurodegenerativos cuyos signos y síntomas predominantes son la debilidad y la espasticidad de las extremidades inferiores. Ofrecemos diferentes aproximaciones para el estudio de diversos tipos de paraparesia espástica así como un panel general que incluye 82 genes asociados a la patología.

ADAR, ALDH18A1, ALDH3A2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ARSI, ATAD3A, ATL1, ATP13A2, ATP2A4, B4GALNT1, BICD2, BSCL2, C19orf12, CAPN1, CCT5, CPT1C, CYP2U1, CYP7B1, DDHD1, DDHD2, DNM2, DSTYK, ENTPD1, ERLIN1, ERLIN2, FA2H, FAR1, FARS2, FLRT1, GAD1, GBA2, GJC2, GPT2, GRID2, HACE1, HSPD1, IBA57, KIDINS220, KIF1A, KIF1C, KIF5A, KLC2, KLC4, KY, L1CAM, MAG, MARS1, MTRFR, NIPA1, NT5C2, PGAP1, PLP1, PNPLA6, RAB3GAP2, REEP1, REEP2, RTN2, SELENOI, SLC16A2, SLC33A1, SPART, SPAST, SPG11, SPG21, SPG24, SPG7, TECPR2, TFG, TUBB4A, UBAP1, USP8, VCP, VPS37A, WASHC5, WDR48, ZFR, ZFYVE26, ZFYVE27
ALDH18A1,ATAD3A, BICD2, BSCL2, DNM2, FAR1,KIF5A, KIDINS220, SPG7, TUBB4A, VCP.
ATL1, ATP2B4, CPT1C, KIF1A, ERLIN2,HSPD1, NIPA1, REEP1, REEP2, RTN2, SLC33A1, SPAST, SPG7, UBAP1, WASHC5, ZFYVE27.
ALDH18A1, ALDH3A2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, ARL6IP1, ARSI, ATP13A2, B4GALNT1, C19orf12, CAPN1, CCT5, DDHD2, DSTYK, ENTPD1, ERLIN2, FA2H, FLRT1, GAD1, GBA2, GJC2, GPT2, GRID2, HACE1, IBA57, KIF1A, KIF1C, KLC2,KLC4, KY, MAG, MARS1, MTRFR, NT5C2, PGAP1, PNPLA6, RAB3GAP2, SELENOI, SPART, SPG21, TECPR2, TFG, USP8, VPS37A, WDR48, ZFYVE26.
CYP7B1, DDHD1, ERLIN1, REEP2, SPG7, SPG11, SPG24, ZFR.

CARACTERÍSTICAS

DESCRIPCIÓN

La epilepsia es un trastorno del sistema nervioso central en el que la actividad cerebral normal se altera, provocando convulsiones o períodos de comportamiento y sensaciones inusuales, y hasta pérdida de la consciencia. Las causas subyacentes son múltiples y heterogéneas. Mediante diferentes estudios analizamos diversos fenotipos de epilepsia. Incluimos también un panel específico para el estudio de síndromes epilépticos de aparición en edad neonatal e infantil, así como un panel general para los casos más complejos.

AARS1, ABAT, ACOX1, ACTL6B, ADAR, ADGRV1, ADRA2B, AFG3L2, AKT1, AKT3, ALDH7A1, ALG13, AMT, AP2M1, AP3B2, ARV1, ARFGEF2, ARHGEF9, ARX, ASAH1, ATP1A2, ATP1A3, ATP13A2, ATP6V1A, ATXN1, BRAT1, BRD7, BTD, C3ORF33, CACNA1A, CACNA1B, CACNA1H, CACNB4, CASK, CCM2, CDKL5, CDK19, CELF2, CERS1, CHD2, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6 , CLN8, CLCN2, CLTC, CNPY3, CNKSR2, CNTNAP2, COL4A1, COL4A2, CPA6, CPLX1, CSTB, CTNND2, CTSD, CYFIP2, DALRD3, DCX, DEPDC5, DHDDS, DMXL2, DNAJC5, DNM1, EFHC1, EEF1A2, EPM2A, FANCL, FGF12, FGF13, FKRP, FKTN, FLNA, FMR1, FOLR1, FOXG1, GABRA1, GABRA2, GABRA5, GABRB2, GABRB3, GABRD, GABRG2, GAL, GBA, GJA3, GLI3, GNAQ, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, GUF1, HCN1, ICK, HEATR3, IFIH1, IQSEC2, JRK, KCNA1, KCNB1, KCNC1, KCNN2, KCNQ2, KCNQ3, KCNT1, LARGE1, LGI1, LMNB2, MAPK10, MECP2, MFSD8, NECAP1, NUS1, NEUROD2, NHLRC1, NPRL2, NPRL3, NTRK2, PAFAH1B1, PARS2, PCDH19, PCDH7, PDCD10, PHACTR1, PIK3CA, PIK3R2, PIGA, PIGP, PIGQ , PLCB1, PNKP, PNPO, POMT1, POMT2, POLG, PPT1, PPP3CA, PRDM8, PRICKLE1, PRICKLE2, PRRT2, RELN, RNASEH2A, RNASEH2B, RNASEH2C,SAMD12, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SERPINI1, SIK1, STX1B, ST3GAL3,SLC1A2, SLC12A5, SLC13A5, SLC2A1, SLC25A22, SLC33A1, SLC6A1, SNX27, SPTAN1, STXBP1, SURF1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TCF4, TPK1, TPP1, TRAK1, TREX1, TRIM8, TSC1, TSC2, TUBA1A, WDR45,WDR62, UBA5, YEATS2, WWOX, YWHAG, ZEB2.
AARS1, ACTL6B, ADAR, ADGRV1, AP3B2, ARV1, ARX, ATP1A2, ATP1A3, ATP6V1A, BRAT1, CACNA1A, CACNA1B, CACNA1H, CACNB4, CASK, CDKL5, CDK19, CELF2, CHD2, CILK1, CLCN2, CLTC, CNPY3, CNKSR2, CPLX1, CYFIP2, DALRD3, DHDDS, DMXL2, DNM1, EFHC1, EEF1A2, FGF12, FGF13, GABRA1, GABRA2, GABRA5, GABRB2, GABRB3, GABRD, GABRG2, GLI3, GNAQ, GNAO1, GRIN2A, GRIN2B, GRIN2D, GUF1, HCN1, IFIH1, IQSEC2, JRK, KCNA1, KCNB1, KCNQ2, KCNQ3, KCNT1, MAPK10, NECAP1, NUS1, NEUROD2, NTRK2, PARS2, PCDH19, PHACTR1, PIGA, PIGP, PIGQ, PLCB1, PNKP, PNPO, PPP3CA, PRRT2, RNASEH2A, RNASEH2B, RNASEH2C, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SIK1, SPTAN1, ST3GAL3, STX1B, ST3GAL3,SLC1A2, SLC12A5, SLC13A5, SLC2A1, SLC25A22,SPTAN1, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TRAK1, TREX1, TRIM8, TSC1, TSC2, WDR45, UBA5, WWOX, YWHAG.
AARS1, ACTL6B, ADAR, ARV1, ARX, ATP1A2, ATP1A3, ATP6V1A, BRAT1, CACNA1A, CACNA1B, CASK, CDK19, CDKL5, CELF2, CHD2, CLTC, CNKSR2, CNPY3, CYFIP2, DALRD3, DHDDS, DMXL2, DNM1, EEF1A2, FGF12, FGF13, GABRA1, GABRG2, GABRA2, GABRA5, GABRB2, GNAO1, GRIN2A, GRIN2B, GRIN2D, GUF1, HCN1, IFIH1 , IQSEC2, KCNA1,KCNB1, KCNQ2, KCNT1, MAPK10, NECAP1, NEUROD2,NTRK2, NUS1, PARS2, PDCH19, PHACTR1, PIGA PIGP, PIGQ,PLCB1, PNKP, PPP3CA, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A,SCN9A, SIK1, SLC12A5, SLC13A5, SLC1A2, SLC25A22,SPATAN, ST3GAL3, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TRAK1, TREX1, TRIM8, TSC1, TSC2, UBA5, WWOX, WDR45.
ADGRV1, GABRD, GABRG2, HCN1, KCNMA1, SCN1A, SCN2A, SCN9A, SCN1B, STX1B.
ADGRV1, GABRD, GABRG2, HCN1, SCN1A, SCN1B, SCN2A, SCN9A, STX1B.
AKT3, CCM2, CHRNA2, CHRNA4, CHRNB2, CNTNAP2, COL4A1, COL4A2, CPA6, DEPC5, GAL, GNAQ, GRIN1, GRIN2A, GRIN2B, KCNT1, KCNQ2, NPRL2, NPRL3, PDCD10, PIK3CA, PIGA, PLCB1, RELN, SCN3A, SCN1A, SCN2A, SLC12A5, SLC25A22, TBC1D24.
ADRA2B, AFG3L2, AP2M1, ASAH1, ATP13A2, CACNB4, CERS1, CHD2, CILK1, CLCN2, CLN3, CLN5, CLN6 , CLN8,CNTN2, CTNND2, CPLX1, CSTB, CTSD, CTSF, DNAJC5, EFHC1, EPM2A, FOLR1, GABRA1, GABRD, GBA, GOSR2, GRN, ICK, JRK, KCNC1, KCTD7, KCNQ3, LMNB2, MFSD8, NHLRC1, PINI1, POLG, PPT1, PRDM8, PRICKLE1, PRICKLE2, SAMD12, SCARB2, SERPINI1, SLC2A1, SLC6A1, SNX27, SURF1, SYNGAP1, TBC1D24, TPK1, TPP1.
CPLX1, TBC1D24, CACNB4, CLCN2, CILK1, EFHC1, GABRA1, GABRD, JRK, KCNQ3.

CARACTERÍSTICAS

DESCRIPCIÓN

Los Trastornos del Espectro Autista (TEA), se definen como una disfunción neurológica crónica que pueden manifestarse mediante una serie de síntomas relacionados con la interacción social, la comunicación y la falta de flexibilidad en el razonamiento y comportamiento. La complejidad de las manifestaciones clínicas sugiere una etiología multicausal siendo las alteraciones genéticas la principal causa. Mediante un exoma dirigido analizamos más de 420 genes con una asociación contrastada con el TEA.

ADNP, ACHE, ACTB, ADA, ADCY3, ADSL, AFF2, AGAP2, AHDC1, AHNAK, AKAP9, ALDH5A1, AMPD1, AMT, ANK2, ANK3, ANKRD11, ANKRD17, ANXA1, AP2S1, APBB1, APH1A, ARHGEF9, ARID1B, ARX, ASAP2, ASH1L, ASPM, ASTN2, ASXL3, ATP10A, ATP2B2, ATRX, AUTS2, AVPR1A, BAZ2B, BCKDK, BCL11A, BICRA, BRAF, BRSK2, BTAF1, CACNA1A, CACNA1C, CACNA1D, CACNA1E, CACNA1H, CACNA2D3, CACNB2, CAPRIN1, CASK, CASZ1, CC2D1A, CCNG1, CCT4, CDC42BPB, CDH13, CDKL5, CELF4, CEP135, CEP41, CGNL1, CHAMP1, CHD2, CHD3, CHD7, CHD8, CHMP1A, CHRNA7, CIB2, CIC, CLASP1, CNKSR2, CNOT1, CNOT3, CNR1, CNTN4, CNTN5, CNTN6, CNTNAP2, CNTNAP3, CNTNAP4, CORO1A, CPEB4, CREBBP, CSDE1, CTCF, CTNNB1, CTNND2, CTTNBP2, CUL3, CUL7, CUX1, CYFIP1, DAPP1, DCC, DDHD2, DDX3X, DEAF1, DENR, DHCR7, DIP2A, DIP2C, DISC1, DLG2, DLG4, DLGAP1, DLX3, DMPK, DNMT3A, DOCK8, DPP10, DPYSL2, DSCAM, DYNC1H1, DYRK1A, EBF3, EFR3A, EHMT1, EIF3G, ELAVL3, ELP2, ELP4, EMSY, EP300, EP400, ERBIN, ETFB, FBN1, FGFR1, FMR1, FOXG1, FOXP1, FOXP2, FRG1, GABRB2, GABRB3, GABRG3, GALNT10, GALNT8, GFAP, GGNBP2, GIGYF1, GIGYF2, GNAI1, GPC4, GPHN, GRIA1, GRIA2, GRID1, GRIK2, GRIK5, GRIN1, GRIN2A, GRIN2B, GRIP1, HDLBP, HECTD4, HECW2, HIVEP2, HIVEP3, HMGN1, HNRNPD, HNRNPF, HNRNPH2, HNRNPK, HNRNPR, HNRNPU, HNRNPUL2, HRAS, ICA1, ILF2, INTS6, IQSEC2, IRF2BPL, ITGB3, JARID2, KANSL1, KAT2B, KAT6A, KATNAL2, KCNB1, KCNJ10, KCNQ2, KCNQ3, KCNS3, KDM3B, KDM4C, KDM5A, KDM5B, KDM5C, KDM6A, KDM6B, KIAA0232, KIAA1586, KIF14, KIF1A, KIRREL3, KMT2A, KMT2C, KMT2E, KMT5B, LAMB1, LDB1, LEO1, LMX1B, LRP1, LRRC4C, LZTR1, MACROD2, MAGEL2, MAP1A, MAPT-AS1, MBD5, MBOAT7, MECP2, MED13, MED13L, MEF2C, MEIS2, MET, MFRP, MIR137, MKX, MSL3, MSNP1, MTOR, MYH10, MYH9, MYO5A, MYO9B, MYT1L, NAA15, NACC1, NAV2, NBEA, NCKAP1, NCOA1, NCOR1, NEXMIF, NF1, NFE2L3, NINL, NIPBL, NLGN1, NLGN2, NLGN3, NLGN4X, NR3C2, NR4A2, NRXN1, NRXN2, NRXN3, NSD1, NSD2, NUAK1, NUDCD2, NUP155, OPHN1, OR52M1, OTUD7A, OXTR, P2RX5, P4HA2, PACS1, PAH, PAK2, PARD3B, PAX5, PCCB, PCDH19, PER2, PHB, PHF12, PHF2, PHF21A, PHF3, PHF7, PHIP, PHRF1, PLCB1, PLXNA4, PLXNB1, POGZ, POMGNT1, PON1, PPP1R9B, PPP2R5D, PPP5C, PREX1, PRICKLE1, PRICKLE2, PRKCB, PRKD2, PRKN, PRODH, PRR12, PSMD12, PTCHD1, PTCHD1-AS, PTEN, PTK7, PTPN11, PYHIN1, QRICH1, RAB2A, RAB43, RAI1, RALGAPB, RANBP17, RBFOX1, RBM27, RELN, RERE, RFX3, RIMS1, ROBO2, RORB, SAE1, SATB1, SBF1, SCAF4, SCN1A, SCN2A, SCN8A, SCN9A, SEMA5A, SET, SETBP1, SETD2, SETD5, SHANK1, SHANK2, SHANK3, SHOX, SIN3A, SIN3B, SKI, SLC12A5, SLC35B1, SLC38A10, SLC6A1, SLC6A3, SLC7A3, SLC7A5, SLC9A6, SLITRK5, SMAD4, SMARCA2, SMARCA4, SMARCC2, SNX5, SON, SORCS3, SOX5, SPARCL1, SPAST, SPEN, SPTBN1, SRCAP, SRPRA, SRSF11, ST8SIA2, STXBP1, STXBP5, SUPT16H, SYN1, SYNGAP1, TAF6, TANC2, TAOK1, TAOK2, TBC1D31, TBCK, TBL1XR1, TBR1, TCF20, TCF4, TCF7L2, TEK, TERF2, TET2, TLK2, TM9SF4, TMLHE, TNRC6B, TRAF7, TRAPPC9, TRIM23, TRIO, TRIP12, TRPC6, TRPM1, TSC1, TSC2, TSHZ3, UBE3A, UBE3C, UBN2, UBR1, UBR5, UNC79, UPF3B, USP15, USP45, USP7, USP9X, VEZF1, VIL1, VPS13B, WAC, WDFY3, WDFY4, WWOX, ZBTB20, ZC3H4, ZMIZ1, ZMYM2, ZMYND11, ZMYND8, ZNF292, ZNF462, ZNF804A.

CARACTERÍSTICAS

DESCRIPCIÓN

La discapacidad intelectual hace referencia a un grupo de trastornos cognitivos de causa heterogénea y compleja con un componente genético en la mayoría de los casos. Los avances en la genética han incrementado la tasa diagnóstica de los estudios actuales hasta en un 30-40% de los pacientes. Nuestro exoma dirigido analiza más de 580 genes asociados a discapacidad intelectual.

AAAS, AASS, ABAT, ABCB11, ABCD1, ABHD5, ACADS, ACSL4, ADAT3, ADGRG1, ADSL, AGA, AGTR2, AHI1, AIMP1, ALDH18A1, ALDH3A2, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALKBH8, AMT, AP1G1, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARL3, ARMC9, ARSA ARX, ASH1L, ASPA, ASPM, ASXL1, ASXL3, ATP6AP2, ATP7A, ATP8A2, ATRX, AUH, B3GALNT2, B3GLCT, B3GNT2, B4GALT1, B9D1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BRAF, BRCA2, BRIP1, BRSK2, BRWD3, BSCL2, BTD, C5ORF42, C12ORF4, CA2, CA8, CACNA1C, CACNG2, CAMK2A, CAMK2B, CANT1, CBS, CBY1, CC2D1A, CC2D2A, CCBE1, CD96, CDH15, CDK5RAP2, CDKL5, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP290, CEP41, CHD7, CHKB, CHMP1A, CIC, CLIC2, CLIP1, CLN3, CLCN4, CLN5, CLN6, CLN8, CLTC, CNKSR2, COG1, COG4, COG5, COG6, COG7, COG8, COL2A1, COL4A1, COMP, COQ2, COQ4, COQ6, COQ8A, COQ9, CPS1, CRADD, CRBN, CRPPA, CSNK2B, CSPP1, CTCF, CTNNB1, CTSA, CTSD, CUL4B, CUX1, CYB5R3, CYP27A1, DARS2, DCPS, DCX, DDC, DDOST, DDX59, DHCR7, DKC1, DLG3, DLL1, DNAJC19, DOCK8, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPF2, DPYD, DYM, DYNC1H1, DYRK1A, EBP, EDC3, EEF1A2, EIF2S3, EPB41L1, ERCC2, ERCC3, ERCC4, ERCC6, ERCC8, ERLIN2, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EZR, FAM126A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FBN1, FGD1, FGF14, FGFR1, FGFR2, FGFR3, FH, FKRP, FKTN, FLNA, FMN2, FOXG1, FOXL2, FRMPD4, FRRS1L, FTCD, FTSJ1, FUCA1, GABRG2, GALC, GALE, GALNS, GALT, GAMT, GAN, GATAD2B, GATM, GBA, GCDH, GCH1, GCSH, GDI1, GFAP, GJB1, GJB6, GJC2, GK, GLB1, GLDC, GLI3, GLYCTK, GM2A, GMPPB, GNAS, GNE, GNPTAB, GNPTG, GNS, GPC3, GPHN, GPI, GRIA3, GRIK2, GRIN1, GRIN2B, GRM7,GSS, GUSB, HCCS, HCFC1, HDAC8, HEXA, HEXB, HGSNAT, HIVEP2, HNMT, HPRT1, HRAS, HSD17B10, HSPD1, HSPG2, HUWE1, HYAL1, HYLS1, IDS, IDUA, IGBP1, IL1RAPL1, INPP5E, INSR, IQSEC2, ITPR1, JAG1, KATNIP, KCNC3, KCNJ10, KCNQ5, KDM5B, KDM5C, KDM6A, KIAA0586, KIF1A, KIF7, KIRREL3, KMT2D, KNL1, KRAS, L1CAM, L2HGDH, LAMA2, LAMP2, LARGE1, LINS1, LMAN2L, LRP5, MAN1B1, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, MASP1, MBD5, MBOAT7, MCOLN1, MCPH1, MECP2, MED12, MED23, MED25, METTL23, MFSD8, MGAT2, MID1, MID2, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MOCS1, MOCS2, MOGS, MPDU1, MPI, MTHFR, MTR, MVK, MYCN, MYO5A, MYT1L, NAA10, NAGLU, NBN, NBEA, NCDN, NDE1, NDP, NDST1, NECTIN1, NEMF, NEXHIF, NFIX, NGLY1, NHS, NIPBL, NLGN4X, NLRP3, NOTCH2, NOTCH3, NPC1, NPC2, NPHP1, NPHP3, NRAS, NSD1, NSDHL, NSUN2, NTRK1, OCRL, OFD1, OPA3, OPHN1, OTC, PACS1, PAFAH1B1, PAH, PAK3, PALB2, PAX3, PAX6, PCBD1, PCCA, PCDH19, PDHA1, PDSS1, PDSS2, PEPD, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGK1, PGM1, PHC1, PHF6, PHF8, PIBF1, PIGL, PLA2G6, PLP1, PMM2, PNKP, PNP, PNPO, POLR3A, POLR3B, POMGNT1, POMGNT2, POMT1, POMT2, PORCN, PPT1, PPP3CA, PQBP1, PRKAR1A, PRICKLE2, PRPS1, PRSS12, PSAP, PTCH1, PTCHD1, PTEN, PTPN11, PTS, QDPR, RAB11A, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAD21, RAD51C, RAF1, RARS2, RBM10, RECQL4, RELN, RFT1, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, RPGRIP1L, RPS6KA3, RSRC1, RXYLT1, SACS, SAMHD1, SAR1B, SARS1, SBDS, SC5D, SCN1A, SCN2A, SCN9A, SEMA3E, SEPSECS, SET, SETBP1, SETD1B, SGSH, SH3PXD2B, SHROOM4, SIL1, SLC12A2, SLC12A6, SLC16A2, SLC17A5, SLC1A3, SLC25A15, SLC25A22, SLC2A1, SLC45A1, SLC9A7, SLC35A1, SLC35A2, SLC35C1, SLC46A1, SLC6A19, SLC6A8, SLC7A7, SLC9A6, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SMC1A, SMC3, SMPD1, SMS, SOS1, SOX11, SOX3, SOX4, SPAST, SPG11, SPRED1, SPTAN1, SRD5A3, SRPX2, ST3GAL3, STEEP1, STIL, STXBP1, SUCLA2, SUCLG1, SUFU, SUMF1, SUOX, SYN1, SYNGAP1, SYP, TAT, TAOK1, TBCE, TCF4, TCIRG1, TCTN1, TCTN2, TCTN3, TECR, TGFBR1, TGFBR2, TIMM8A, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM67, TNIK, TPI1, TPP1, TRAPPC9, TREM2, TREX1, TRIM32, TRPM3, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSPAN7, TTC21B, TTC5, TTC8, TUBA1A, TUBB4A, TUSC3, TWIST1, TYROBP, UBE2A, UBE3A, UBE4A, UBR1, UFSP2, UMPS, UPF3B, UROC1, USP27X, USP9X, VLDLR, VPS13B, VRK1, WASHC4, WDPCP, WDR62, ZC3H14, ZDHHC15, ZDHHC9, ZEB2, ZFYVE26, ZMYND11, ZNF335, ZNF423, ZNF711, ZNF81.
ABCD1, ACSL4, AFF2, AGTR2, AMMECR1, AP1S2, AR, ALG13, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCAP31, BCOR, BEX4, BRWD3, CASK, CCDC22, CDK16, CDKL5, CLCN4, CLIC2, CNKSR2, CUL4B, DCX, DKC1, DLG3, DMD, FANCB, FGD1, FLNA, FMR1, FRMPD4, FTSJ1, G6PD, GABRE, GDI1, GK, GPC3, GPC4, GRIA3, HCCS, HCFC1, HDAC6, HDAC8, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IL1RAPL1, IQSEC2, KDM5C, KDM6A, KLF8, L1CAM, LAMP2, MAGT1, MAOA, MAOB, MBTPS2, MECP2, MED12, MID1, MTM1, NAA10, NDP, NDUFA1, NEXMIF, NHS, NLGN3, NLGN4X, NSDHL, NXF5, OCRL, OFD1, OPHN1, OTC, PAK3, PDHA1, PGK1, PHF6, PHF8, PLP1, PLXNA3, PLXNB3, PORCN, PQBP1, PRPS1, PTCHD1, RAB39B, RAB40AL, RBM10, RPS6KA3, RPS6KA6, SHROOM4, SLC16A2, SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SRPX2, STEEP1, SYN1, SYP, TIMM8A, TRPC5, TSPAN7, UBE2A, UPF3B, USP27X, USP9X, VCX3A, WDR45, ZC4H2, ZCCHC12, ZDHHC15, ZDHHC9, ZIC3, ZMYM3, ZNF41, ZNF630, ZNF711, ZNF81.

CARACTERÍSTICAS

DESCRIPCIÓN

La ataxia es un trastorno motor caracterizado por la disminución de la capacidad de coordinar los movimientos, manifestándose como temblor de partes del cuerpo durante la realización de movimientos voluntarios, como dificultad para realizar movimientos precisos o como dificultad para mantener el equilibrio.

AAAS, ABCB7, ABHD12, ADCK3, ADGRG1, AFG3L2, AHI1, ALDH5A1,ANO10, APTX, ARL13B,ATCAY, ATM, ATN1, ATP1A3, ATP8A2, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8,BEAN1, CA8, CACNA1A, CACNB4, CAMTA1, CC2D2A, CCDC88C, CEP290, CHMP1A, CHP1, CLCN2, CLN5, COA7, COQ2, COQ5, COQ8A, COQ9, COX20, CP, CRPPA, CSTB,CWF19L1, CYP27A1, DARS2, DLAT, DNAJC19, DNMT1, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5,EXOSC3, FAT2, FGF14, FLVCR1, FMR1, FXN, GALC, GBA2, GPR56, GRID2, GRM1, GSS, TPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIAA0226, KIF1C, L2HGDH, LARGE1, KIF1C,, MARS2, MECP2, MRE11, MTPAP, MTTP, NEU1, NHLRC1, NKX6-2, NPC1, NPC2, NOP56, OPA1, OPA3, OPHN1, PAX6, PCNA, PDYN, PHYH, PIK3R5, PLA2G6, PLEKHG4, PNKP, PNPLA6, POLG, POLH, POMGNT2, PPP2R2B, PRICKLE1, PRKCG RARS2, RFC1, RNF170,RPGRIP1L, RUBCN, SACS, SAR1B, SEPSECS, SETX, SCN2A, SCN8A, SETX, SIL1, SLC17A5, SLC1A3, SLC2A1, SLC52A2, SLC9A6, SMPD1, SNX14, SPG7, SPTBN2, STUB1, SYNE1, SYT14, TBP, TDP1, TGM6, TMEM240, TMEM67, TSEN2, TSEN54, TTBK2, TTPA, TPP1, TTBK2, TTPA, TUBB4A, TWNK, VAMP1, VLDLR, VLDLR, VPS13A, VWA3B, WDR81, WFS1, WWOX, ZNF592
AFG3L2, ATN1, ATP1A3, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8, BEAN, C9orf72, CACNA1A, DNMT1, EEF2, FGF12, FGF14, GRID2, ITPR1, KCNC3, KCND3, NOP56, PDYN, PPP2R2B, PRKCG, SPTBN2, TBP, TGM6, TMEM240, TTBK2, TUBB4A
ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8, CACNA1A, PPP2R2B, TBP
AFG3L2, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8, BEAN, CACNA1A, EEF2, ELOVL5, FAT2, FGF14, ITPR1, KCNC3, KCND3, NOP56, PDYN, PPP2R2B, PRKCG, SPTBN2, STUB1, TBP, TGM6, TMEM240, TTBK2
ADCK3, COQ5, SMPD1, SYNE1, NPC1, NPC2
ATP1A3, CACNA1A, CACNB4, KCNA1, SCN2A, SLC1A3
AFG3L2, CHP1, KIF1C, MARS2*, MTPAP, NKX6-2, SACS, SPG7, VAMP1
ANO10, APTX, ATM, CYP27A1, CWF19L1, FXN*, GRM1, PEX7, PHYH, PNPLA6, RFC1, RUBCN, SACS, SETX, SIL1, SLC52A2, SNX14, STUB1, SYNE1, TPP1, TTPA, TWNK, VWA3B, WFS1
ATM, APTX, COA7, CYP27A1, SETX, PIK3R5, PNKP
ABCB7, CASK, FMR1*, OPHN1, SLC9A6

CARACTERÍSTICAS

Otros servicios

DESCRIPCIÓN

Ofrecemos diferentes posibilidades diagnósticas a partir de la secuenciación de exoma, entre ellas el estudio de Exoma Clínico y el Exoma Trío para casos familiares.

DESCRIPCIÓN

Realizamos estudios que implican el análisis de un único gen, tanto mediante secuenciación Sanger como por NGS.

DESCRIPCIÓN

Utilizamos la técnica MLPA (Multiplex Ligation-dependent Probe Amplification) para la identificación de deleciones/duplicaciones o alteraciones de metilación en un gen concreto o región específica.

Si no has encontrado el estudio que te interesa prueba con
nuestro buscador de estudios genéticos

Neurología

Ofrecemos diferentes aproximaciones diagnósticas especializadas en Neurología lo que permite optar de manera flexible por la opción más adecuada a cada paciente. 

Plazo de entrega: 30-35 días

DESCRIPCIÓN

El término «trastornos del movimiento» se refiere a un grupo de afecciones del sistema nervioso que provocan un aumento de movimientos anormales, que pueden ser voluntarios o involuntarios. Los trastornos del movimiento también pueden provocar movimientos lentos o reducidos. Ofrecemos el estudio de los principales trastornos del movimiento como son las distonías y la enfermedad de Parkinson.

Enfermedad de Parkinson

ATP13A2, COQ2, DNAJC6, FBXO7, GBA, LRRK2, MAPT, PARK7 (DJ1), PINK1, PRKN, PODXL, SLC6A3, SNCA, SYNJ1, VPS13C, VPS35
GBA, LRRK2, PARK7 (DJ1), PINK1, PRKN, SNCA, VPS13C, VPS35
ATP13A2,DJ1, DNAJC6, FBXO7, GBA, PINK1, PODXL, PRKN, SLC6A3, SYNJ1, VPS13C

Trastornos parkinsonianos

ATP6AP2, COQ2, DCTN1, GCH1, LRRK2, LYST, MAPT, NUS1, OPA1, PLA2G6, PTRHD1, RAB39B, SPG11, TWNK, ZFYVE26, SYNJ1, VPS13C

Distonía

ANO3, ADAR, ARSA, ATN1, ATP13A2, ATP1A3, ATP7B, BTD, C19orf12, CBS, CLN3, CLN5, CLN6, CLN8, CP, CTSD, CTSF, D2HGDH, DCAF17, DDO, DNAJC5, ECHS1, FA2H, FOXG1, FUCA1, GALC, GALT, GAMT, GATM, GCDH, GCH1, GLB1, GM2A, GNAL, GNB1, GRN, HPRT1, HTT, JPH3, KCTD7, KMT2B, MCEE, MECP2, MFSD8, MMAA, MMAB, MMADHC, MMUT, NPC1, NPC2, PAH, PANK2, PDGFB, PDGFRB, PLA2G6, PLP1, PNKD, POLG, PPT1, PRKN, PRRT2, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SERAC1, SGCE, SLC19A3, SLC20A2, SLC2A1, SLC30A10, SLC39A14, SLC6A19, SLC6A8, SPR, SUCLA2, TAF1, TH, THAP1, TIMM8A, TOR1A, TPP1, TREX1, TUBB4, VPS13A, WDR45, XK, XPR1
ANO3, GNAL, KMT2B, THAP1, TOR1A, TUBB4
ATP1A3, GCH1, SPR, TAF1, TH.
ADAR, ARSA, ATN1, ATP13A2, ATP7B, BTD, C19orf12, CBS, CLN3, CLN5, CLN6, CLN8, CP, CTSD, CTSF, D2HGDH, DCAF17, DDO, DNAJC5, FA2H, FOXG1, FUCA1, GALC, GALT, GAMT, GATM, GCDH, GLB1, GM2A, GNB1, GRN, HPRT1, HTT, JPH3, KCTD7, MCEE, MECP2, MFSD8, MMAA, MMAB, MMADHC, MMUT, NPC1, NPC2, PAH, PARK2, PANK2, PDGFB, PDGFRB, PLA2G6, PLP1 POLG, PPT1, PRKN, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SERAC1, SLC19A3, SLC20A2, SLC30A10, SLC39A14, SLC6A19, SLC6A8, SUCLA2, TIMM8A, TPP1, TREX1, VPS13A, WDR45, XK, XPR1.

CARACTERÍSTICAS

Tiempo de respuesta: 30-35 días

DESCRIPCIÓN

La demencia es un término general que describe una amplia gama de síntomas asociados con el deterioro de la memoria y otras habilidades del pensamiento, que llegan a reducir la capacidad de una persona de realizar sus actividades diarias. La enfermedad de Alzheimer es responsable de un 60-80% de los casos. Se incluye el estudio de los genes asociados a diferentes tipos de demencia.

APP, APOE (alelo e4), C9orf72, CHCHD10, CHMP2B, FUS, GRN, HNRNPA1, HNRNPA2B1, MAPT, PSEN1, PSEN2, SQSTM1, TARDBP, TBK1, TMEM106B, TREM2, VCP
APP, APOE (alelo e4), C9orf72, GRN, MAPT, PSEN1, PSEN2, TREM2
MAPT, PSEN1, PSEN2, TREM2
C9orf72, CHCHD10, CHMP2B, FUS, GRN, HNRNPA1, HNRNPA2B1, MAPT, PSEN1, SQSTM1, TARDBP, TBK1, TMEM106B, TREM2, VCP

CARACTERÍSTICAS

DESCRIPCIÓN

Las enfermedades neuromusculares son un conjunto de más de 150 afecciones neurológicas, progresivas y crónicas, en su mayoría de origen genético, que provocan la pérdida de fuerza muscular y la degeneración muscular y nerviosa asociada. Mediante los diferentes paneles abordamos el estudio de diversas enfermedades neuromusculares como las neuropatías, miopatías y distrofias musculares, enfermedades con afectación de la motoneurona y síndromes miasténicos así como otros síndromes que cursan con hipotonía, miotonía y/o debilidad.

Enfermedad de las neuronas motoras

AGTPBP1, ALS2, ANG, ANXA11, ATXN2, AR, ASAH1, ASCC1, ATP7A, BICD2, BSCL2, C9ORF72, CCNF,CFAP410, CHCHD10, CHMP2B, DAO, DCTN1, DES, DNAJB2, DYNC1H1, EPHA4, ERBB4, ERLIN2, EXOSC3, EXOSC8, EXOSC9, FBXO38, FIG4, FUS, GARS1, GLE1, GLT8D1, HNRNPA1, HSPB1, HSPB3, HSPB8, IGHMBP2, LAS1L, MATR3, MOBP, MYH14, NAIP, NEFH,NEK1, OPTN, PFN1, PLEKHG5, PON1, PON2, PON3, PPARGC1A, PRPH, REEP1, SCFD1, SEPSECS SETX, SIGMAR1, SLC12A6, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SMN1, SMN2, SOD1, SPG11, SPTLC1, SQSTM1, TAF15, TARDBP, TBCE, TBK1, TREM2, TRIP4, TRPV4, TSEN15, TSEN2, TSEN34, TSEN54, TUBA4A, UBA1, UBQLN2, UNC13A, VAPB, VCP, VRK1, VWA1.
ALS2, ANG, ANXA11, ATXN2, C9orf72, CCNF,CFAP410, CHCHD10, CHMP2B, DAO, DCTN1, EPHA4, ERBB4, FIG4, FUS, GLE1, GLT8D1, HNRNPA1, MATR3, MOBP, NEFH,NEK1, OPTN, PFN1, PON1, PON2, PON3, PPARGC1A, PRPH, SCFD1, SETX, SIGMAR1, SOD1, SPG11, SPTLC1, SQSTM1, TAF15, TARDBP, TBK1, TREM2, TUBA4A, UBQLN2, UNC13A, VAPB, VCP.
C9ORF72, CHCHD10, FUS, SQSTM1, TARDBP, TBK1, VCP.

Neuropatías

AARS1, ABCA1, ABCD1, ABHD12, AGTPBP1, AGXT, AIFM1, AP1S1, APOA1, APTX, AR, ARHGEF10, ARSA, ASAH1, ATL1, ATL3, ATM, ATP1A1, ATP7A, ATXN1, ATXN10, ATXN2, ATXN3, B4GALNT1, BAG3, BCKDHB, BICD2, BSCL2, CADM3, CD59, CHCHD10, CLCF1, CNTNAP1, COA7, COX10, COX6A1, CPOX, CRLF1, CTDP1, CYP27A1, DARS2, DCTN1, DCTN2, DCAF8, DGAT2, DEGS1, DHTKD1, DMXL2, DNAJB2, DNAJC3, DNM2, DNMT1, DRP2, DST, DYNC1H1, EGR2, ELP1, ERCC6, ERCC8, ETFDH, FAH, FAM126A, FBLN5, FBXO38, FGD4, FIG4, FLRT1, FLVCR1, FMR1, FXN, GALC, GAN, GARS1, GBA2, GDAP1, GJB1, GJB3, GJC2, GLA, GNB4, GSN, HADHA, HADHB, HARS1, HEXB, HINT1, HK1, HMBS, HOXD10, HSPB1, HSPB3, HSPB8, IARS2, IBA57, IGHMBP2, INF2, JPH1, KARS1, KCNA2, KIF1A, KIF1B, KIF5A, KLC2, KRT1, LITAF, LMNA, LRSAM1, LYST, MARS1, MCM3AP, MED25, MFN2, MMACHC, MME, MORC2, MPV17, MPZ, MTMR2, MTRFR, MTTP, MYH14, NAGA, NAGLU, NDRG1, NEFH, NEFL, NGF, NOD2, NTRK1, OPA1, OPA3, PDHA1, PDK3, PDYN, PEX10, PEX7, PHYH, PLEKHG5, PLP1, PMM2, PMP2, PMP22, PNKP, PNPLA6, POLG, POLR3A, PPOX, PRDM12, PRKCG, PRNP, PRPS1, PRX, PTRH2, RAB7A, RAI1, REEP1, RETREG1, SACS, SBF1, SBF2, SCARB2, SCN10A, SCN11A, SCN9A, SCO2, SCYL1, SEPTIN9, SETX, SGPL1, SH3TC2, SIGMAR1, SLC12A6, SLC25A19, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SORD, SOX5, SOX10, SPAST, SPTAN1, SPG11, SPG7, SPTLC1, SPTLC2, SUCLA2, SURF1, SYT2, TFG, TRIM2, TRIP4, TRPA1, TRPV4, TTPA, TTR, TUBB3, TYMP, UBA1, VAPB, VCP, VPS13A, VRK1, VWA1, WARS1, WNK1, XRCC1, YARS1, ZFYVE26.
AARS1, ABHD12, AIFM1, ARHGEF10, ATP1A1, ATP7A, BAG3, BICD2, BSCL2, CADM3, CNTNAP1, COA7, COX6A1, CTDP1, DCTN1, DCTN2, DCAF8, DGAT2, DHTKD1, DMXL2, DNAJB2, DNM2, DNMT1, DRP2, DYNC1H1, EGR2, FBLN5, FBXO38, FGD4, FIG4, FLRT1,FXN, GAN, GARS1, GDAP1, GJB1, GJB3, GNB4, HADHB, HARS1, HINT1, HK1, HSPB1, HSPB3, HSPB8, IBA57, IGHMBP2, INF2, KARS1, KIF1B, KIF5A, KLC2, KRT1, LITAF, LMNA, LRSAM1, MARS1, MCM3AP, MED25, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, MTRFR, NAGLU, NDRG1, NEFH, NEFL OPA1, PDK3, PLEKHG5, PMP2, PMP22, PNKP, PRPS1, PRX, PTRH2, RAB7A, RAI1, SBF1, SBF2, SCO2, SCYL1,SETX, SH3TC2, SIGMAR1, SGPL1, SLC12A6, , SLC25A46, SLC52A2, SLC52A3, , SORD, SOX5, SPG11, SPTLC1, SURF1, TFG, TRIM2, TRPV4, VCP, VRK1, VWA1, WARS1, YARS1
AARS, AGTPBP1, ASAH1, ATP7A, BICD2, BSCL2, CHCHD10, DCTN1, DNAJB2, DYNC1H1, FBXO38, GARS, GSN, HARS, HEXB, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, MFN2, MORC2, PLEKHG5, REEP1, SETX, SIGMAR1, SLC52A2, SLC52A3, SLC5A7, SPTAN1, SYT2, TFG, TRIP4, TRPV4, UBA1, VAPB, VRK1, WARS1.
ATL1, ATL3, DNMT1, DST, RETREG1, ELP1, KIF1A, NGF, NTRK1, PRDM12, SCN11A, SCN9A, SPTLC1, SPTLC2, WNK.

Miastenia Congénita

AGRN, AK9, ALG14, ALG2, CHAT, CHD8, CHRNA1, CHRNB1, CHRND, CHRNE, COL13A1, COLQ, DES, DOK7, DPAGT1, GFPT1, GMPPB, LAMA5, LAMB2, LRP4, MACF1, MUSK, MYO9A, PLEC, PREPL, RAPSN, RPH3A, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYT2, TOR1AIP1, UNC13A, VAMP1.

Miopatías

AARS2, ABHD5, ACAD9, ACADM, ACADS, ACADVL, ACTA1, AGK, AGL, AIFM1, ALDOA, AMPD1, AMPD3, ANO5, B3GALNT2, B4GAT1, BCS1L, BIN1, BVES, C1QBP, CACNA1S, CAPN3, CASQ1, CAVIN1, CCDC174, CCDC78, CFL2, CHCHD10, CHKB, CNBP, CNTN1, COL12A1, COL4A1, COL6A1, COL6A2, COL6A3, COQ2, COQ8A, COQ9, COX10, COX15, COX6A2, CPT2, CRPPA, CRYAB, DAG1, DES, DGUOK, DMD, DMPK, DNA2, DNAJB6, DNM2, DNMT3B, DPM2, DPM3, DUX4, DYSF, EARS2, ECHS1, EMD, ENO3, ETFA, ETFB, ETFDH, FARS2, FBXL4, FDX2, FHL1, FKRP, FKTN, FLAD1, FLNC, FOXRED1, FRG1, GAA, GBE1, GFER, GIPC1, GMPPB, GNE, GYG1, GYS1, HACD1, HADHA, HADHB, HNRNPDL, HSPG2, ISCU, ITGA7, KIF21A, KLHL40, KLHL41, LAMA2, LARGE1, LDB3, LDHA, LIG3, LIMS2, LMNA, LMOD3, LPIN1, LTBP4, MAMLD1, MAP3K20, MATR3, MGME1, MICU1, MSTO1, MTM1, MTMR14, MYF6, MYH7, MYL1, MYL2, MYO18B, MYOT, MYPN, NDUFA1, NDUFA11, NDUFA6, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF8, NDUFB10, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NUBPL, ORAI1, PABPN1, PFKM, PGAM2, PGK1, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PHOX2A, PLEC, PNPLA2, PNPLA8, POGLUT1, POLG, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PUS1, PYGM, RBCK1, RNASEH1, RRM2B, RXYLT1, RYR1, SDHA, SDHAF1, SDHB, SDHD, SELENON, SGCA, SGCB, SGCD, SGCG, SLC16A1, SLC22A5, SLC25A32, SMCHD1, SPEG, STAC3, STIM1, SYNE1, SYNE2, TAZ, TCAP, TIA1, TIMMDC1, TK2, TMEM126B, TMEM43, TNNT1, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIP4, TTN, TUBB2B, TUBB3, TWNK, TYMP, VMA21, YARS2
ACTA1, ANO5, B3GALNT2, B4GAT1, BVES, CAPN3, CHKB, CNBP, COL12A1, COL4A1, COL6A1, COL6A2, COL6A3, CRPPA, DAG1, DMD, DMPK, DNAJB6, DNMT3B, DPM2, DPM3, DUX4, DYSF, EMD, FHL1, FKRP, FKTN, FRG1, GIPC1, GMPPB, HNRNPDL, HSPG2, ITGA7, KIF21A, LAMA2, LARGE1, LIMS2, LMNA, LTBP4, MYH7, MYOT, NOTCH2NLC, PABPN1, PHOX2A, PLEC, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RXYLT1, SELENON, SGCA, SGCB, SGCD, SGCG, SMCHD1, SYNE1, SYNE2, TCAP, TMEM43, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TRIP4, TTN, TUBB2B, TUBB3, VMA21
DNMT3B, DUX4, FHL1, FRG1, MYH7, SMCHD1
ANO5, BVES, CAPN3, CRPPA, DAG1, DNAJB6, DYSF, FKRP, FKTN, GMPPB, HNRNPDL, LIMS2, MYOT, PLEC, POGLUT1, POMGNT1, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN.
EMD, FHL1, LMNA, SYNE1, SYNE2, TMEM43, TTN.
ANO5, CAV3, CRYAB, DES, DNAJB6, DYSF, FLNC, GNE, LDB3, MATR3, MYH7, MYOT, NEB, TIA1, TCAP, TTN.
ACTA1, BIN1, CASQ1, CCDC174, CCDC78, CFL2, CNTN1, DNM2, FHL1, HACD1, ITGA7, KLHL40, KLHL41, LMOD3, MAMLD1, MAP3K20, MEFF10, MTM1, MTMR14, MYF6, MYH7, MYL1, MYL2, MYO18B, MYPN, NEB, ORAI1, RYR1, SELENON, SPEG, STAC3, STIM1, TNNT1, TPM2, TPM3, TTN.
ACTA1, CFL2, KLHL40, KLHL41, LMOD3, NEB, TNNT1, TPM2, TPM3.
AARS2, ABHD5, ACAD9, ACADM, ACADS, ACADVL, AGK, AGL, AIFM1, ALDOA, AMPD1, AMPD3, BCS1L, C1QBP, CACNA1S, CASQ1, CAVIN1, CHCHD10, CHKB, COQ2, COQ8A, COQ9, COX10 COX15, COX6A2, CPT2, DGUOK, DNA2, EARS2, ECHS1, ENO3, ETFA, ETFB, ETFDH, FARS2, FBXL4, FDX2, FLAD1, FOXRED1, GAA, GBE1, GFER, GYG1, GYS1, HADHA, HADHB, ISCU, LAMP2, LDHA, LIG3, LPIN1, MGME1, MICU1, MSTO1, NDUFA1, NDUFA11, NDUFA6, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF8, NDUFB10, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL, PFKM, PGAM2, PGK1, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PNPLA2, PNPLA8, POLG, PUS1, PYGM, RBCK1, RNASEH1, RRM2B, SDHA, SDHAF1, SDHB, SDHD, SLC16A1, SLC22A5, SLC25A32, TAZ, TIMMDC1, TK2, TMEM126B, TWNK, TYMP, YARS2.

CARACTERÍSTICAS

Tiempo de respuesta: 30-35 días

DESCRIPCIÓN

Las leucodistrofias representan un grupo heterogéneo de enfermedades hereditarias degenerativas de la mielina cerebral que produce una amplia afectación de la sustancia blanca. Las manifestaciones clínicas son muy variadas, lo que dificulta su diagnóstico. Este estudio comprende el análisis de 72  genes relacionados con diferentes tipos de leucodistrofia.

AARS2, ABCD1, ACER3, ACOX1, ADAR, AIFM1, AIMP1, ALDH3A2, ARSA, ASPA, BCAP31, CLCN2, COA8, CSF1R, CYP27A1, DARS1, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FAM126A, FOLR1, FUCA1, GALC, GBE1, GFAP, GJA1, GJC2, HEPACAM, HIKESHI, HSD17B4, HSPD1, IFIH1, ISCA2, LMNB1, MLC1, MTHFS, NADK2, NDUFA2, NKX6-2, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PLP1, POLR1C, POLR3A, POLR3B, PSAP, RARS1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RPIA, SAMHD1, SCP2, SLC17A5, SOX10, SUMF1, TREM2, TREX1, TUBB4A, TYROBP, UFM1, VPS11

CARACTERÍSTICAS

DESCRIPCIÓN

La paraparesia espástica hereditaria (HSP) comprende un grupo genético y clínicamente heterogéneo de trastornos neurodegenerativos cuyos signos y síntomas predominantes son la debilidad y la espasticidad de las extremidades inferiores. Ofrecemos diferentes aproximaciones para el estudio de diversos tipos de paraparesia espástica así como un panel general que incluye 82 genes asociados a la patología.

ADAR, ALDH18A1, ALDH3A2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ARSI, ATAD3A, ATL1, ATP13A2, ATP2A4, B4GALNT1, BICD2, BSCL2, C19orf12, CAPN1, CCT5, CPT1C, CYP2U1, CYP7B1, DDHD1, DDHD2, DNM2, DSTYK, ENTPD1, ERLIN1, ERLIN2, FA2H, FAR1, FARS2, FLRT1, GAD1, GBA2, GJC2, GPT2, GRID2, HACE1, HSPD1, IBA57, KIDINS220, KIF1A, KIF1C, KIF5A, KLC2, KLC4, KY, L1CAM, MAG, MARS1, MTRFR, NIPA1, NT5C2, PGAP1, PLP1, PNPLA6, RAB3GAP2, REEP1, REEP2, RTN2, SELENOI, SLC16A2, SLC33A1, SPART, SPAST, SPG11, SPG21, SPG24, SPG7, TECPR2, TFG, TUBB4A, UBAP1, USP8, VCP, VPS37A, WASHC5, WDR48, ZFR, ZFYVE26, ZFYVE27
ALDH18A1,ATAD3A, BICD2, BSCL2, DNM2, FAR1,KIF5A, KIDINS220, SPG7, TUBB4A, VCP.
ATL1, ATP2B4, CPT1C, KIF1A, ERLIN2,HSPD1, NIPA1, REEP1, REEP2, RTN2, SLC33A1, SPAST, SPG7, UBAP1, WASHC5, ZFYVE27.
ALDH18A1, ALDH3A2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, ARL6IP1, ARSI, ATP13A2, B4GALNT1, C19orf12, CAPN1, CCT5, DDHD2, DSTYK, ENTPD1, ERLIN2, FA2H, FLRT1, GAD1, GBA2, GJC2, GPT2, GRID2, HACE1, IBA57, KIF1A, KIF1C, KLC2,KLC4, KY, MAG, MARS1, MTRFR, NT5C2, PGAP1, PNPLA6, RAB3GAP2, SELENOI, SPART, SPG21, TECPR2, TFG, USP8, VPS37A, WDR48, ZFYVE26.
CYP7B1, DDHD1, ERLIN1, REEP2, SPG7, SPG11, SPG24, ZFR.

CARACTERÍSTICAS

DESCRIPCIÓN

La epilepsia es un trastorno del sistema nervioso central en el que la actividad cerebral normal se altera, provocando convulsiones o períodos de comportamiento y sensaciones inusuales, y hasta pérdida de la consciencia. Las causas subyacentes son múltiples y heterogéneas. Mediante diferentes estudios analizamos diversos fenotipos de epilepsia. Incluimos también un panel específico para el estudio de síndromes epilépticos de aparición en edad neonatal e infantil, así como un panel general para los casos más complejos.

AARS1, ABAT, ACOX1, ACTL6B, ADAR, ADGRV1, ADRA2B, AFG3L2, AKT1, AKT3, ALDH7A1, ALG13, AMT, AP2M1, AP3B2, ARV1, ARFGEF2, ARHGEF9, ARX, ASAH1, ATP1A2, ATP1A3, ATP13A2, ATP6V1A, ATXN1, BRAT1, BRD7, BTD, C3ORF33, CACNA1A, CACNA1B, CACNA1H, CACNB4, CASK, CCM2, CDKL5, CDK19, CELF2, CERS1, CHD2, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6 , CLN8, CLCN2, CLTC, CNPY3, CNKSR2, CNTNAP2, COL4A1, COL4A2, CPA6, CPLX1, CSTB, CTNND2, CTSD, CYFIP2, DALRD3, DCX, DEPDC5, DHDDS, DMXL2, DNAJC5, DNM1, EFHC1, EEF1A2, EPM2A, FANCL, FGF12, FGF13, FKRP, FKTN, FLNA, FMR1, FOLR1, FOXG1, GABRA1, GABRA2, GABRA5, GABRB2, GABRB3, GABRD, GABRG2, GAL, GBA, GJA3, GLI3, GNAQ, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, GUF1, HCN1, ICK, HEATR3, IFIH1, IQSEC2, JRK, KCNA1, KCNB1, KCNC1, KCNN2, KCNQ2, KCNQ3, KCNT1, LARGE1, LGI1, LMNB2, MAPK10, MECP2, MFSD8, NECAP1, NUS1, NEUROD2, NHLRC1, NPRL2, NPRL3, NTRK2, PAFAH1B1, PARS2, PCDH19, PCDH7, PDCD10, PHACTR1, PIK3CA, PIK3R2, PIGA, PIGP, PIGQ , PLCB1, PNKP, PNPO, POMT1, POMT2, POLG, PPT1, PPP3CA, PRDM8, PRICKLE1, PRICKLE2, PRRT2, RELN, RNASEH2A, RNASEH2B, RNASEH2C,SAMD12, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SERPINI1, SIK1, STX1B, ST3GAL3,SLC1A2, SLC12A5, SLC13A5, SLC2A1, SLC25A22, SLC33A1, SLC6A1, SNX27, SPTAN1, STXBP1, SURF1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TCF4, TPK1, TPP1, TRAK1, TREX1, TRIM8, TSC1, TSC2, TUBA1A, WDR45,WDR62, UBA5, YEATS2, WWOX, YWHAG, ZEB2.
AARS1, ACTL6B, ADAR, ADGRV1, AP3B2, ARV1, ARX, ATP1A2, ATP1A3, ATP6V1A, BRAT1, CACNA1A, CACNA1B, CACNA1H, CACNB4, CASK, CDKL5, CDK19, CELF2, CHD2, CILK1, CLCN2, CLTC, CNPY3, CNKSR2, CPLX1, CYFIP2, DALRD3, DHDDS, DMXL2, DNM1, EFHC1, EEF1A2, FGF12, FGF13, GABRA1, GABRA2, GABRA5, GABRB2, GABRB3, GABRD, GABRG2, GLI3, GNAQ, GNAO1, GRIN2A, GRIN2B, GRIN2D, GUF1, HCN1, IFIH1, IQSEC2, JRK, KCNA1, KCNB1, KCNQ2, KCNQ3, KCNT1, MAPK10, NECAP1, NUS1, NEUROD2, NTRK2, PARS2, PCDH19, PHACTR1, PIGA, PIGP, PIGQ, PLCB1, PNKP, PNPO, PPP3CA, PRRT2, RNASEH2A, RNASEH2B, RNASEH2C, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SIK1, SPTAN1, ST3GAL3, STX1B, ST3GAL3,SLC1A2, SLC12A5, SLC13A5, SLC2A1, SLC25A22,SPTAN1, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TRAK1, TREX1, TRIM8, TSC1, TSC2, WDR45, UBA5, WWOX, YWHAG.
AARS1, ACTL6B, ADAR, ARV1, ARX, ATP1A2, ATP1A3, ATP6V1A, BRAT1, CACNA1A, CACNA1B, CASK, CDK19, CDKL5, CELF2, CHD2, CLTC, CNKSR2, CNPY3, CYFIP2, DALRD3, DHDDS, DMXL2, DNM1, EEF1A2, FGF12, FGF13, GABRA1, GABRG2, GABRA2, GABRA5, GABRB2, GNAO1, GRIN2A, GRIN2B, GRIN2D, GUF1, HCN1, IFIH1 , IQSEC2, KCNA1,KCNB1, KCNQ2, KCNT1, MAPK10, NECAP1, NEUROD2,NTRK2, NUS1, PARS2, PDCH19, PHACTR1, PIGA PIGP, PIGQ,PLCB1, PNKP, PPP3CA, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A,SCN9A, SIK1, SLC12A5, SLC13A5, SLC1A2, SLC25A22,SPATAN, ST3GAL3, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TRAK1, TREX1, TRIM8, TSC1, TSC2, UBA5, WWOX, WDR45.
ADGRV1, GABRD, GABRG2, HCN1, KCNMA1, SCN1A, SCN2A, SCN9A, SCN1B, STX1B.
ADGRV1, GABRD, GABRG2, HCN1, SCN1A, SCN1B, SCN2A, SCN9A, STX1B.
AKT3, CCM2, CHRNA2, CHRNA4, CHRNB2, CNTNAP2, COL4A1, COL4A2, CPA6, DEPC5, GAL, GNAQ, GRIN1, GRIN2A, GRIN2B, KCNT1, KCNQ2, NPRL2, NPRL3, PDCD10, PIK3CA, PIGA, PLCB1, RELN, SCN3A, SCN1A, SCN2A, SLC12A5, SLC25A22, TBC1D24.
ADRA2B, AFG3L2, AP2M1, ASAH1, ATP13A2, CACNB4, CERS1, CHD2, CILK1, CLCN2, CLN3, CLN5, CLN6 , CLN8,CNTN2, CTNND2, CPLX1, CSTB, CTSD, CTSF, DNAJC5, EFHC1, EPM2A, FOLR1, GABRA1, GABRD, GBA, GOSR2, GRN, ICK, JRK, KCNC1, KCTD7, KCNQ3, LMNB2, MFSD8, NHLRC1, PINI1, POLG, PPT1, PRDM8, PRICKLE1, PRICKLE2, SAMD12, SCARB2, SERPINI1, SLC2A1, SLC6A1, SNX27, SURF1, SYNGAP1, TBC1D24, TPK1, TPP1.
CPLX1, TBC1D24, CACNB4, CLCN2, CILK1, EFHC1, GABRA1, GABRD, JRK, KCNQ3.

CARACTERÍSTICAS

DESCRIPCIÓN

Los Trastornos del Espectro Autista (TEA), se definen como una disfunción neurológica crónica que pueden manifestarse mediante una serie de síntomas relacionados con la interacción social, la comunicación y la falta de flexibilidad en el razonamiento y comportamiento. La complejidad de las manifestaciones clínicas sugiere una etiología multicausal siendo las alteraciones genéticas la principal causa. Mediante un exoma dirigido analizamos más de 420 genes con una asociación contrastada con el TEA.

ADNP, ACHE, ACTB, ADA, ADCY3, ADSL, AFF2, AGAP2, AHDC1, AHNAK, AKAP9, ALDH5A1, AMPD1, AMT, ANK2, ANK3, ANKRD11, ANKRD17, ANXA1, AP2S1, APBB1, APH1A, ARHGEF9, ARID1B, ARX, ASAP2, ASH1L, ASPM, ASTN2, ASXL3, ATP10A, ATP2B2, ATRX, AUTS2, AVPR1A, BAZ2B, BCKDK, BCL11A, BICRA, BRAF, BRSK2, BTAF1, CACNA1A, CACNA1C, CACNA1D, CACNA1E, CACNA1H, CACNA2D3, CACNB2, CAPRIN1, CASK, CASZ1, CC2D1A, CCNG1, CCT4, CDC42BPB, CDH13, CDKL5, CELF4, CEP135, CEP41, CGNL1, CHAMP1, CHD2, CHD3, CHD7, CHD8, CHMP1A, CHRNA7, CIB2, CIC, CLASP1, CNKSR2, CNOT1, CNOT3, CNR1, CNTN4, CNTN5, CNTN6, CNTNAP2, CNTNAP3, CNTNAP4, CORO1A, CPEB4, CREBBP, CSDE1, CTCF, CTNNB1, CTNND2, CTTNBP2, CUL3, CUL7, CUX1, CYFIP1, DAPP1, DCC, DDHD2, DDX3X, DEAF1, DENR, DHCR7, DIP2A, DIP2C, DISC1, DLG2, DLG4, DLGAP1, DLX3, DMPK, DNMT3A, DOCK8, DPP10, DPYSL2, DSCAM, DYNC1H1, DYRK1A, EBF3, EFR3A, EHMT1, EIF3G, ELAVL3, ELP2, ELP4, EMSY, EP300, EP400, ERBIN, ETFB, FBN1, FGFR1, FMR1, FOXG1, FOXP1, FOXP2, FRG1, GABRB2, GABRB3, GABRG3, GALNT10, GALNT8, GFAP, GGNBP2, GIGYF1, GIGYF2, GNAI1, GPC4, GPHN, GRIA1, GRIA2, GRID1, GRIK2, GRIK5, GRIN1, GRIN2A, GRIN2B, GRIP1, HDLBP, HECTD4, HECW2, HIVEP2, HIVEP3, HMGN1, HNRNPD, HNRNPF, HNRNPH2, HNRNPK, HNRNPR, HNRNPU, HNRNPUL2, HRAS, ICA1, ILF2, INTS6, IQSEC2, IRF2BPL, ITGB3, JARID2, KANSL1, KAT2B, KAT6A, KATNAL2, KCNB1, KCNJ10, KCNQ2, KCNQ3, KCNS3, KDM3B, KDM4C, KDM5A, KDM5B, KDM5C, KDM6A, KDM6B, KIAA0232, KIAA1586, KIF14, KIF1A, KIRREL3, KMT2A, KMT2C, KMT2E, KMT5B, LAMB1, LDB1, LEO1, LMX1B, LRP1, LRRC4C, LZTR1, MACROD2, MAGEL2, MAP1A, MAPT-AS1, MBD5, MBOAT7, MECP2, MED13, MED13L, MEF2C, MEIS2, MET, MFRP, MIR137, MKX, MSL3, MSNP1, MTOR, MYH10, MYH9, MYO5A, MYO9B, MYT1L, NAA15, NACC1, NAV2, NBEA, NCKAP1, NCOA1, NCOR1, NEXMIF, NF1, NFE2L3, NINL, NIPBL, NLGN1, NLGN2, NLGN3, NLGN4X, NR3C2, NR4A2, NRXN1, NRXN2, NRXN3, NSD1, NSD2, NUAK1, NUDCD2, NUP155, OPHN1, OR52M1, OTUD7A, OXTR, P2RX5, P4HA2, PACS1, PAH, PAK2, PARD3B, PAX5, PCCB, PCDH19, PER2, PHB, PHF12, PHF2, PHF21A, PHF3, PHF7, PHIP, PHRF1, PLCB1, PLXNA4, PLXNB1, POGZ, POMGNT1, PON1, PPP1R9B, PPP2R5D, PPP5C, PREX1, PRICKLE1, PRICKLE2, PRKCB, PRKD2, PRKN, PRODH, PRR12, PSMD12, PTCHD1, PTCHD1-AS, PTEN, PTK7, PTPN11, PYHIN1, QRICH1, RAB2A, RAB43, RAI1, RALGAPB, RANBP17, RBFOX1, RBM27, RELN, RERE, RFX3, RIMS1, ROBO2, RORB, SAE1, SATB1, SBF1, SCAF4, SCN1A, SCN2A, SCN8A, SCN9A, SEMA5A, SET, SETBP1, SETD2, SETD5, SHANK1, SHANK2, SHANK3, SHOX, SIN3A, SIN3B, SKI, SLC12A5, SLC35B1, SLC38A10, SLC6A1, SLC6A3, SLC7A3, SLC7A5, SLC9A6, SLITRK5, SMAD4, SMARCA2, SMARCA4, SMARCC2, SNX5, SON, SORCS3, SOX5, SPARCL1, SPAST, SPEN, SPTBN1, SRCAP, SRPRA, SRSF11, ST8SIA2, STXBP1, STXBP5, SUPT16H, SYN1, SYNGAP1, TAF6, TANC2, TAOK1, TAOK2, TBC1D31, TBCK, TBL1XR1, TBR1, TCF20, TCF4, TCF7L2, TEK, TERF2, TET2, TLK2, TM9SF4, TMLHE, TNRC6B, TRAF7, TRAPPC9, TRIM23, TRIO, TRIP12, TRPC6, TRPM1, TSC1, TSC2, TSHZ3, UBE3A, UBE3C, UBN2, UBR1, UBR5, UNC79, UPF3B, USP15, USP45, USP7, USP9X, VEZF1, VIL1, VPS13B, WAC, WDFY3, WDFY4, WWOX, ZBTB20, ZC3H4, ZMIZ1, ZMYM2, ZMYND11, ZMYND8, ZNF292, ZNF462, ZNF804A.

CARACTERÍSTICAS

DESCRIPCIÓN

La discapacidad intelectual hace referencia a un grupo de trastornos cognitivos de causa heterogénea y compleja con un componente genético en la mayoría de los casos. Los avances en la genética han incrementado la tasa diagnóstica de los estudios actuales hasta en un 30-40% de los pacientes. Nuestro exoma dirigido analiza más de 580 genes asociados a discapacidad intelectual.

AAAS, AASS, ABAT, ABCB11, ABCD1, ABHD5, ACADS, ACSL4, ADAT3, ADGRG1, ADSL, AGA, AGTR2, AHI1, AIMP1, ALDH18A1, ALDH3A2, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALKBH8, AMT, AP1G1, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARL3, ARMC9, ARSA ARX, ASH1L, ASPA, ASPM, ASXL1, ASXL3, ATP6AP2, ATP7A, ATP8A2, ATRX, AUH, B3GALNT2, B3GLCT, B3GNT2, B4GALT1, B9D1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BRAF, BRCA2, BRIP1, BRSK2, BRWD3, BSCL2, BTD, C5ORF42, C12ORF4, CA2, CA8, CACNA1C, CACNG2, CAMK2A, CAMK2B, CANT1, CBS, CBY1, CC2D1A, CC2D2A, CCBE1, CD96, CDH15, CDK5RAP2, CDKL5, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP290, CEP41, CHD7, CHKB, CHMP1A, CIC, CLIC2, CLIP1, CLN3, CLCN4, CLN5, CLN6, CLN8, CLTC, CNKSR2, COG1, COG4, COG5, COG6, COG7, COG8, COL2A1, COL4A1, COMP, COQ2, COQ4, COQ6, COQ8A, COQ9, CPS1, CRADD, CRBN, CRPPA, CSNK2B, CSPP1, CTCF, CTNNB1, CTSA, CTSD, CUL4B, CUX1, CYB5R3, CYP27A1, DARS2, DCPS, DCX, DDC, DDOST, DDX59, DHCR7, DKC1, DLG3, DLL1, DNAJC19, DOCK8, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPF2, DPYD, DYM, DYNC1H1, DYRK1A, EBP, EDC3, EEF1A2, EIF2S3, EPB41L1, ERCC2, ERCC3, ERCC4, ERCC6, ERCC8, ERLIN2, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EZR, FAM126A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FBN1, FGD1, FGF14, FGFR1, FGFR2, FGFR3, FH, FKRP, FKTN, FLNA, FMN2, FOXG1, FOXL2, FRMPD4, FRRS1L, FTCD, FTSJ1, FUCA1, GABRG2, GALC, GALE, GALNS, GALT, GAMT, GAN, GATAD2B, GATM, GBA, GCDH, GCH1, GCSH, GDI1, GFAP, GJB1, GJB6, GJC2, GK, GLB1, GLDC, GLI3, GLYCTK, GM2A, GMPPB, GNAS, GNE, GNPTAB, GNPTG, GNS, GPC3, GPHN, GPI, GRIA3, GRIK2, GRIN1, GRIN2B, GRM7,GSS, GUSB, HCCS, HCFC1, HDAC8, HEXA, HEXB, HGSNAT, HIVEP2, HNMT, HPRT1, HRAS, HSD17B10, HSPD1, HSPG2, HUWE1, HYAL1, HYLS1, IDS, IDUA, IGBP1, IL1RAPL1, INPP5E, INSR, IQSEC2, ITPR1, JAG1, KATNIP, KCNC3, KCNJ10, KCNQ5, KDM5B, KDM5C, KDM6A, KIAA0586, KIF1A, KIF7, KIRREL3, KMT2D, KNL1, KRAS, L1CAM, L2HGDH, LAMA2, LAMP2, LARGE1, LINS1, LMAN2L, LRP5, MAN1B1, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, MASP1, MBD5, MBOAT7, MCOLN1, MCPH1, MECP2, MED12, MED23, MED25, METTL23, MFSD8, MGAT2, MID1, MID2, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MOCS1, MOCS2, MOGS, MPDU1, MPI, MTHFR, MTR, MVK, MYCN, MYO5A, MYT1L, NAA10, NAGLU, NBN, NBEA, NCDN, NDE1, NDP, NDST1, NECTIN1, NEMF, NEXHIF, NFIX, NGLY1, NHS, NIPBL, NLGN4X, NLRP3, NOTCH2, NOTCH3, NPC1, NPC2, NPHP1, NPHP3, NRAS, NSD1, NSDHL, NSUN2, NTRK1, OCRL, OFD1, OPA3, OPHN1, OTC, PACS1, PAFAH1B1, PAH, PAK3, PALB2, PAX3, PAX6, PCBD1, PCCA, PCDH19, PDHA1, PDSS1, PDSS2, PEPD, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGK1, PGM1, PHC1, PHF6, PHF8, PIBF1, PIGL, PLA2G6, PLP1, PMM2, PNKP, PNP, PNPO, POLR3A, POLR3B, POMGNT1, POMGNT2, POMT1, POMT2, PORCN, PPT1, PPP3CA, PQBP1, PRKAR1A, PRICKLE2, PRPS1, PRSS12, PSAP, PTCH1, PTCHD1, PTEN, PTPN11, PTS, QDPR, RAB11A, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAD21, RAD51C, RAF1, RARS2, RBM10, RECQL4, RELN, RFT1, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, RPGRIP1L, RPS6KA3, RSRC1, RXYLT1, SACS, SAMHD1, SAR1B, SARS1, SBDS, SC5D, SCN1A, SCN2A, SCN9A, SEMA3E, SEPSECS, SET, SETBP1, SETD1B, SGSH, SH3PXD2B, SHROOM4, SIL1, SLC12A2, SLC12A6, SLC16A2, SLC17A5, SLC1A3, SLC25A15, SLC25A22, SLC2A1, SLC45A1, SLC9A7, SLC35A1, SLC35A2, SLC35C1, SLC46A1, SLC6A19, SLC6A8, SLC7A7, SLC9A6, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SMC1A, SMC3, SMPD1, SMS, SOS1, SOX11, SOX3, SOX4, SPAST, SPG11, SPRED1, SPTAN1, SRD5A3, SRPX2, ST3GAL3, STEEP1, STIL, STXBP1, SUCLA2, SUCLG1, SUFU, SUMF1, SUOX, SYN1, SYNGAP1, SYP, TAT, TAOK1, TBCE, TCF4, TCIRG1, TCTN1, TCTN2, TCTN3, TECR, TGFBR1, TGFBR2, TIMM8A, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM67, TNIK, TPI1, TPP1, TRAPPC9, TREM2, TREX1, TRIM32, TRPM3, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSPAN7, TTC21B, TTC5, TTC8, TUBA1A, TUBB4A, TUSC3, TWIST1, TYROBP, UBE2A, UBE3A, UBE4A, UBR1, UFSP2, UMPS, UPF3B, UROC1, USP27X, USP9X, VLDLR, VPS13B, VRK1, WASHC4, WDPCP, WDR62, ZC3H14, ZDHHC15, ZDHHC9, ZEB2, ZFYVE26, ZMYND11, ZNF335, ZNF423, ZNF711, ZNF81.
ABCD1, ACSL4, AFF2, AGTR2, AMMECR1, AP1S2, AR, ALG13, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCAP31, BCOR, BEX4, BRWD3, CASK, CCDC22, CDK16, CDKL5, CLCN4, CLIC2, CNKSR2, CUL4B, DCX, DKC1, DLG3, DMD, FANCB, FGD1, FLNA, FMR1, FRMPD4, FTSJ1, G6PD, GABRE, GDI1, GK, GPC3, GPC4, GRIA3, HCCS, HCFC1, HDAC6, HDAC8, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IL1RAPL1, IQSEC2, KDM5C, KDM6A, KLF8, L1CAM, LAMP2, MAGT1, MAOA, MAOB, MBTPS2, MECP2, MED12, MID1, MTM1, NAA10, NDP, NDUFA1, NEXMIF, NHS, NLGN3, NLGN4X, NSDHL, NXF5, OCRL, OFD1, OPHN1, OTC, PAK3, PDHA1, PGK1, PHF6, PHF8, PLP1, PLXNA3, PLXNB3, PORCN, PQBP1, PRPS1, PTCHD1, RAB39B, RAB40AL, RBM10, RPS6KA3, RPS6KA6, SHROOM4, SLC16A2, SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SRPX2, STEEP1, SYN1, SYP, TIMM8A, TRPC5, TSPAN7, UBE2A, UPF3B, USP27X, USP9X, VCX3A, WDR45, ZC4H2, ZCCHC12, ZDHHC15, ZDHHC9, ZIC3, ZMYM3, ZNF41, ZNF630, ZNF711, ZNF81.

CARACTERÍSTICAS

DESCRIPCIÓN

La ataxia es un trastorno motor caracterizado por la disminución de la capacidad de coordinar los movimientos, manifestándose como temblor de partes del cuerpo durante la realización de movimientos voluntarios, como dificultad para realizar movimientos precisos o como dificultad para mantener el equilibrio.

AAAS, ABCB7, ABHD12, ADCK3, ADGRG1, AFG3L2, AHI1, ALDH5A1,ANO10, APTX, ARL13B,ATCAY, ATM, ATN1, ATP1A3, ATP8A2, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8,BEAN1, CA8, CACNA1A, CACNB4, CAMTA1, CC2D2A, CCDC88C, CEP290, CHMP1A, CHP1, CLCN2, CLN5, COA7, COQ2, COQ5, COQ8A, COQ9, COX20, CP, CRPPA, CSTB,CWF19L1, CYP27A1, DARS2, DLAT, DNAJC19, DNMT1, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5,EXOSC3, FAT2, FGF14, FLVCR1, FMR1, FXN, GALC, GBA2, GPR56, GRID2, GRM1, GSS, TPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIAA0226, KIF1C, L2HGDH, LARGE1, KIF1C,, MARS2, MECP2, MRE11, MTPAP, MTTP, NEU1, NHLRC1, NKX6-2, NPC1, NPC2, NOP56, OPA1, OPA3, OPHN1, PAX6, PCNA, PDYN, PHYH, PIK3R5, PLA2G6, PLEKHG4, PNKP, PNPLA6, POLG, POLH, POMGNT2, PPP2R2B, PRICKLE1, PRKCG RARS2, RFC1, RNF170,RPGRIP1L, RUBCN, SACS, SAR1B, SEPSECS, SETX, SCN2A, SCN8A, SETX, SIL1, SLC17A5, SLC1A3, SLC2A1, SLC52A2, SLC9A6, SMPD1, SNX14, SPG7, SPTBN2, STUB1, SYNE1, SYT14, TBP, TDP1, TGM6, TMEM240, TMEM67, TSEN2, TSEN54, TTBK2, TTPA, TPP1, TTBK2, TTPA, TUBB4A, TWNK, VAMP1, VLDLR, VLDLR, VPS13A, VWA3B, WDR81, WFS1, WWOX, ZNF592
AFG3L2, ATN1, ATP1A3, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8, BEAN, C9orf72, CACNA1A, DNMT1, EEF2, FGF12, FGF14, GRID2, ITPR1, KCNC3, KCND3, NOP56, PDYN, PPP2R2B, PRKCG, SPTBN2, TBP, TGM6, TMEM240, TTBK2, TUBB4A
ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8, CACNA1A, PPP2R2B, TBP
AFG3L2, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8, BEAN, CACNA1A, EEF2, ELOVL5, FAT2, FGF14, ITPR1, KCNC3, KCND3, NOP56, PDYN, PPP2R2B, PRKCG, SPTBN2, STUB1, TBP, TGM6, TMEM240, TTBK2
ADCK3, COQ5, SMPD1, SYNE1, NPC1, NPC2
ATP1A3, CACNA1A, CACNB4, KCNA1, SCN2A, SLC1A3
AFG3L2, CHP1, KIF1C, MARS2*, MTPAP, NKX6-2, SACS, SPG7, VAMP1
ANO10, APTX, ATM, CYP27A1, CWF19L1, FXN*, GRM1, PEX7, PHYH, PNPLA6, RFC1, RUBCN, SACS, SETX, SIL1, SLC52A2, SNX14, STUB1, SYNE1, TPP1, TTPA, TWNK, VWA3B, WFS1
ATM, APTX, COA7, CYP27A1, SETX, PIK3R5, PNKP
ABCB7, CASK, FMR1*, OPHN1, SLC9A6

CARACTERÍSTICAS

Otros servicios

DESCRIPCIÓN

Ofrecemos diferentes posibilidades diagnósticas a partir de la secuenciación de exoma, entre ellas el estudio de Exoma Clínico y el Exoma Trío para casos familiares.

DESCRIPCIÓN

Realizamos estudios que implican el análisis de un único gen, tanto mediante secuenciación Sanger como por NGS.

DESCRIPCIÓN

Utilizamos la técnica MLPA (Multiplex Ligation-dependent Probe Amplification) para la identificación de deleciones/duplicaciones o alteraciones de metilación en un gen concreto o región específica.

Si no has encontrado el estudio que te interesa prueba con nuestro buscador de estudios genéticos

Neurología

Plazo de entrega: 30-35 días

DESCRIPCIÓN

El término «trastornos del movimiento» se refiere a un grupo de afecciones del sistema nervioso que provocan un aumento de movimientos anormales, que pueden ser voluntarios o involuntarios. Los trastornos del movimiento también pueden provocar movimientos lentos o reducidos. Ofrecemos el estudio de los principales trastornos del movimiento como son las distonías y la enfermedad de Parkinson.

Enfermedad de Parkinson

ATP13A2, COQ2, DNAJC6, FBXO7, GBA, LRRK2, MAPT, PARK7 (DJ1), PINK1, PRKN, PODXL, SLC6A3, SNCA, SYNJ1, VPS13C, VPS35
GBA, LRRK2, PARK7 (DJ1), PINK1, PRKN, SNCA, VPS13C, VPS35
ATP13A2,DJ1, DNAJC6, FBXO7, GBA, PINK1, PODXL, PRKN, SLC6A3, SYNJ1, VPS13C

Trastornos parkinsonianos

ATP6AP2, COQ2, DCTN1, GCH1, LRRK2, LYST, MAPT, NUS1, OPA1, PLA2G6, PTRHD1, RAB39B, SPG11, TWNK, ZFYVE26, SYNJ1, VPS13C

Distonía

ANO3, ADAR, ARSA, ATN1, ATP13A2, ATP1A3, ATP7B, BTD, C19orf12, CBS, CLN3, CLN5, CLN6, CLN8, CP, CTSD, CTSF, D2HGDH, DCAF17, DDO, DNAJC5, ECHS1, FA2H, FOXG1, FUCA1, GALC, GALT, GAMT, GATM, GCDH, GCH1, GLB1, GM2A, GNAL, GNB1, GRN, HPRT1, HTT, JPH3, KCTD7, KMT2B, MCEE, MECP2, MFSD8, MMAA, MMAB, MMADHC, MMUT, NPC1, NPC2, PAH, PANK2, PDGFB, PDGFRB, PLA2G6, PLP1, PNKD, POLG, PPT1, PRKN, PRRT2, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SERAC1, SGCE, SLC19A3, SLC20A2, SLC2A1, SLC30A10, SLC39A14, SLC6A19, SLC6A8, SPR, SUCLA2, TAF1, TH, THAP1, TIMM8A, TOR1A, TPP1, TREX1, TUBB4, VPS13A, WDR45, XK, XPR1
ANO3, GNAL, KMT2B, THAP1, TOR1A, TUBB4
ATP1A3, GCH1, SPR, TAF1, TH.
ADAR, ARSA, ATN1, ATP13A2, ATP7B, BTD, C19orf12, CBS, CLN3, CLN5, CLN6, CLN8, CP, CTSD, CTSF, D2HGDH, DCAF17, DDO, DNAJC5, FA2H, FOXG1, FUCA1, GALC, GALT, GAMT, GATM, GCDH, GLB1, GM2A, GNB1, GRN, HPRT1, HTT, JPH3, KCTD7, MCEE, MECP2, MFSD8, MMAA, MMAB, MMADHC, MMUT, NPC1, NPC2, PAH, PARK2, PANK2, PDGFB, PDGFRB, PLA2G6, PLP1 POLG, PPT1, PRKN, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SERAC1, SLC19A3, SLC20A2, SLC30A10, SLC39A14, SLC6A19, SLC6A8, SUCLA2, TIMM8A, TPP1, TREX1, VPS13A, WDR45, XK, XPR1.

CARACTERÍSTICAS

Tiempo de respuesta: 30-35 días

DESCRIPCIÓN

La demencia es un término general que describe una amplia gama de síntomas asociados con el deterioro de la memoria y otras habilidades del pensamiento, que llegan a reducir la capacidad de una persona de realizar sus actividades diarias. La enfermedad de Alzheimer es responsable de un 60-80% de los casos. Se incluye el estudio de los genes asociados a diferentes tipos de demencia.

APP, APOE (alelo e4), C9orf72, CHCHD10, CHMP2B, FUS, GRN, HNRNPA1, HNRNPA2B1, MAPT, PSEN1, PSEN2, SQSTM1, TARDBP, TBK1, TMEM106B, TREM2, VCP
APP, APOE (alelo e4), C9orf72, GRN, MAPT, PSEN1, PSEN2, TREM2
MAPT, PSEN1, PSEN2, TREM2
C9orf72, CHCHD10, CHMP2B, FUS, GRN, HNRNPA1, HNRNPA2B1, MAPT, PSEN1, SQSTM1, TARDBP, TBK1, TMEM106B, TREM2, VCP

CARACTERÍSTICAS

DESCRIPCIÓN

Las enfermedades neuromusculares son un conjunto de más de 150 afecciones neurológicas, progresivas y crónicas, en su mayoría de origen genético, que provocan la pérdida de fuerza muscular y la degeneración muscular y nerviosa asociada. Mediante los diferentes paneles abordamos el estudio de diversas enfermedades neuromusculares como las neuropatías, miopatías y distrofias musculares, enfermedades con afectación de la motoneurona y síndromes miasténicos así como otros síndromes que cursan con hipotonía, miotonía y/o debilidad.

Enfermedad de las neuronas motoras

AGTPBP1, ALS2, ANG, ANXA11, ATXN2, AR, ASAH1, ASCC1, ATP7A, BICD2, BSCL2, C9ORF72, CCNF,CFAP410, CHCHD10, CHMP2B, DAO, DCTN1, DES, DNAJB2, DYNC1H1, EPHA4, ERBB4, ERLIN2, EXOSC3, EXOSC8, EXOSC9, FBXO38, FIG4, FUS, GARS1, GLE1, GLT8D1, HNRNPA1, HSPB1, HSPB3, HSPB8, IGHMBP2, LAS1L, MATR3, MOBP, MYH14, NAIP, NEFH,NEK1, OPTN, PFN1, PLEKHG5, PON1, PON2, PON3, PPARGC1A, PRPH, REEP1, SCFD1, SEPSECS SETX, SIGMAR1, SLC12A6, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SMN1, SMN2, SOD1, SPG11, SPTLC1, SQSTM1, TAF15, TARDBP, TBCE, TBK1, TREM2, TRIP4, TRPV4, TSEN15, TSEN2, TSEN34, TSEN54, TUBA4A, UBA1, UBQLN2, UNC13A, VAPB, VCP, VRK1, VWA1.
ALS2, ANG, ANXA11, ATXN2, C9orf72, CCNF,CFAP410, CHCHD10, CHMP2B, DAO, DCTN1, EPHA4, ERBB4, FIG4, FUS, GLE1, GLT8D1, HNRNPA1, MATR3, MOBP, NEFH,NEK1, OPTN, PFN1, PON1, PON2, PON3, PPARGC1A, PRPH, SCFD1, SETX, SIGMAR1, SOD1, SPG11, SPTLC1, SQSTM1, TAF15, TARDBP, TBK1, TREM2, TUBA4A, UBQLN2, UNC13A, VAPB, VCP.
C9ORF72, CHCHD10, FUS, SQSTM1, TARDBP, TBK1, VCP.

Neuropatías

AARS1, ABCA1, ABCD1, ABHD12, AGTPBP1, AGXT, AIFM1, AP1S1, APOA1, APTX, AR, ARHGEF10, ARSA, ASAH1, ATL1, ATL3, ATM, ATP1A1, ATP7A, ATXN1, ATXN10, ATXN2, ATXN3, B4GALNT1, BAG3, BCKDHB, BICD2, BSCL2, CADM3, CD59, CHCHD10, CLCF1, CNTNAP1, COA7, COX10, COX6A1, CPOX, CRLF1, CTDP1, CYP27A1, DARS2, DCTN1, DCTN2, DCAF8, DGAT2, DEGS1, DHTKD1, DMXL2, DNAJB2, DNAJC3, DNM2, DNMT1, DRP2, DST, DYNC1H1, EGR2, ELP1, ERCC6, ERCC8, ETFDH, FAH, FAM126A, FBLN5, FBXO38, FGD4, FIG4, FLRT1, FLVCR1, FMR1, FXN, GALC, GAN, GARS1, GBA2, GDAP1, GJB1, GJB3, GJC2, GLA, GNB4, GSN, HADHA, HADHB, HARS1, HEXB, HINT1, HK1, HMBS, HOXD10, HSPB1, HSPB3, HSPB8, IARS2, IBA57, IGHMBP2, INF2, JPH1, KARS1, KCNA2, KIF1A, KIF1B, KIF5A, KLC2, KRT1, LITAF, LMNA, LRSAM1, LYST, MARS1, MCM3AP, MED25, MFN2, MMACHC, MME, MORC2, MPV17, MPZ, MTMR2, MTRFR, MTTP, MYH14, NAGA, NAGLU, NDRG1, NEFH, NEFL, NGF, NOD2, NTRK1, OPA1, OPA3, PDHA1, PDK3, PDYN, PEX10, PEX7, PHYH, PLEKHG5, PLP1, PMM2, PMP2, PMP22, PNKP, PNPLA6, POLG, POLR3A, PPOX, PRDM12, PRKCG, PRNP, PRPS1, PRX, PTRH2, RAB7A, RAI1, REEP1, RETREG1, SACS, SBF1, SBF2, SCARB2, SCN10A, SCN11A, SCN9A, SCO2, SCYL1, SEPTIN9, SETX, SGPL1, SH3TC2, SIGMAR1, SLC12A6, SLC25A19, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SORD, SOX5, SOX10, SPAST, SPTAN1, SPG11, SPG7, SPTLC1, SPTLC2, SUCLA2, SURF1, SYT2, TFG, TRIM2, TRIP4, TRPA1, TRPV4, TTPA, TTR, TUBB3, TYMP, UBA1, VAPB, VCP, VPS13A, VRK1, VWA1, WARS1, WNK1, XRCC1, YARS1, ZFYVE26.
AARS1, ABHD12, AIFM1, ARHGEF10, ATP1A1, ATP7A, BAG3, BICD2, BSCL2, CADM3, CNTNAP1, COA7, COX6A1, CTDP1, DCTN1, DCTN2, DCAF8, DGAT2, DHTKD1, DMXL2, DNAJB2, DNM2, DNMT1, DRP2, DYNC1H1, EGR2, FBLN5, FBXO38, FGD4, FIG4, FLRT1,FXN, GAN, GARS1, GDAP1, GJB1, GJB3, GNB4, HADHB, HARS1, HINT1, HK1, HSPB1, HSPB3, HSPB8, IBA57, IGHMBP2, INF2, KARS1, KIF1B, KIF5A, KLC2, KRT1, LITAF, LMNA, LRSAM1, MARS1, MCM3AP, MED25, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, MTRFR, NAGLU, NDRG1, NEFH, NEFL OPA1, PDK3, PLEKHG5, PMP2, PMP22, PNKP, PRPS1, PRX, PTRH2, RAB7A, RAI1, SBF1, SBF2, SCO2, SCYL1,SETX, SH3TC2, SIGMAR1, SGPL1, SLC12A6, , SLC25A46, SLC52A2, SLC52A3, , SORD, SOX5, SPG11, SPTLC1, SURF1, TFG, TRIM2, TRPV4, VCP, VRK1, VWA1, WARS1, YARS1
AARS, AGTPBP1, ASAH1, ATP7A, BICD2, BSCL2, CHCHD10, DCTN1, DNAJB2, DYNC1H1, FBXO38, GARS, GSN, HARS, HEXB, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, MFN2, MORC2, PLEKHG5, REEP1, SETX, SIGMAR1, SLC52A2, SLC52A3, SLC5A7, SPTAN1, SYT2, TFG, TRIP4, TRPV4, UBA1, VAPB, VRK1, WARS1.
ATL1, ATL3, DNMT1, DST, RETREG1, ELP1, KIF1A, NGF, NTRK1, PRDM12, SCN11A, SCN9A, SPTLC1, SPTLC2, WNK.

Miastenia Congénita

AGRN, AK9, ALG14, ALG2, CHAT, CHD8, CHRNA1, CHRNB1, CHRND, CHRNE, COL13A1, COLQ, DES, DOK7, DPAGT1, GFPT1, GMPPB, LAMA5, LAMB2, LRP4, MACF1, MUSK, MYO9A, PLEC, PREPL, RAPSN, RPH3A, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYT2, TOR1AIP1, UNC13A, VAMP1.

Miopatías

AARS2, ABHD5, ACAD9, ACADM, ACADS, ACADVL, ACTA1, AGK, AGL, AIFM1, ALDOA, AMPD1, AMPD3, ANO5, B3GALNT2, B4GAT1, BCS1L, BIN1, BVES, C1QBP, CACNA1S, CAPN3, CASQ1, CAVIN1, CCDC174, CCDC78, CFL2, CHCHD10, CHKB, CNBP, CNTN1, COL12A1, COL4A1, COL6A1, COL6A2, COL6A3, COQ2, COQ8A, COQ9, COX10, COX15, COX6A2, CPT2, CRPPA, CRYAB, DAG1, DES, DGUOK, DMD, DMPK, DNA2, DNAJB6, DNM2, DNMT3B, DPM2, DPM3, DUX4, DYSF, EARS2, ECHS1, EMD, ENO3, ETFA, ETFB, ETFDH, FARS2, FBXL4, FDX2, FHL1, FKRP, FKTN, FLAD1, FLNC, FOXRED1, FRG1, GAA, GBE1, GFER, GIPC1, GMPPB, GNE, GYG1, GYS1, HACD1, HADHA, HADHB, HNRNPDL, HSPG2, ISCU, ITGA7, KIF21A, KLHL40, KLHL41, LAMA2, LARGE1, LDB3, LDHA, LIG3, LIMS2, LMNA, LMOD3, LPIN1, LTBP4, MAMLD1, MAP3K20, MATR3, MGME1, MICU1, MSTO1, MTM1, MTMR14, MYF6, MYH7, MYL1, MYL2, MYO18B, MYOT, MYPN, NDUFA1, NDUFA11, NDUFA6, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF8, NDUFB10, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NUBPL, ORAI1, PABPN1, PFKM, PGAM2, PGK1, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PHOX2A, PLEC, PNPLA2, PNPLA8, POGLUT1, POLG, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PUS1, PYGM, RBCK1, RNASEH1, RRM2B, RXYLT1, RYR1, SDHA, SDHAF1, SDHB, SDHD, SELENON, SGCA, SGCB, SGCD, SGCG, SLC16A1, SLC22A5, SLC25A32, SMCHD1, SPEG, STAC3, STIM1, SYNE1, SYNE2, TAZ, TCAP, TIA1, TIMMDC1, TK2, TMEM126B, TMEM43, TNNT1, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIP4, TTN, TUBB2B, TUBB3, TWNK, TYMP, VMA21, YARS2
ACTA1, ANO5, B3GALNT2, B4GAT1, BVES, CAPN3, CHKB, CNBP, COL12A1, COL4A1, COL6A1, COL6A2, COL6A3, CRPPA, DAG1, DMD, DMPK, DNAJB6, DNMT3B, DPM2, DPM3, DUX4, DYSF, EMD, FHL1, FKRP, FKTN, FRG1, GIPC1, GMPPB, HNRNPDL, HSPG2, ITGA7, KIF21A, LAMA2, LARGE1, LIMS2, LMNA, LTBP4, MYH7, MYOT, NOTCH2NLC, PABPN1, PHOX2A, PLEC, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RXYLT1, SELENON, SGCA, SGCB, SGCD, SGCG, SMCHD1, SYNE1, SYNE2, TCAP, TMEM43, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TRIP4, TTN, TUBB2B, TUBB3, VMA21
DNMT3B, DUX4, FHL1, FRG1, MYH7, SMCHD1
ANO5, BVES, CAPN3, CRPPA, DAG1, DNAJB6, DYSF, FKRP, FKTN, GMPPB, HNRNPDL, LIMS2, MYOT, PLEC, POGLUT1, POMGNT1, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN.
EMD, FHL1, LMNA, SYNE1, SYNE2, TMEM43, TTN.
ANO5, CAV3, CRYAB, DES, DNAJB6, DYSF, FLNC, GNE, LDB3, MATR3, MYH7, MYOT, NEB, TIA1, TCAP, TTN.
ACTA1, BIN1, CASQ1, CCDC174, CCDC78, CFL2, CNTN1, DNM2, FHL1, HACD1, ITGA7, KLHL40, KLHL41, LMOD3, MAMLD1, MAP3K20, MEFF10, MTM1, MTMR14, MYF6, MYH7, MYL1, MYL2, MYO18B, MYPN, NEB, ORAI1, RYR1, SELENON, SPEG, STAC3, STIM1, TNNT1, TPM2, TPM3, TTN.
ACTA1, CFL2, KLHL40, KLHL41, LMOD3, NEB, TNNT1, TPM2, TPM3.
AARS2, ABHD5, ACAD9, ACADM, ACADS, ACADVL, AGK, AGL, AIFM1, ALDOA, AMPD1, AMPD3, BCS1L, C1QBP, CACNA1S, CASQ1, CAVIN1, CHCHD10, CHKB, COQ2, COQ8A, COQ9, COX10 COX15, COX6A2, CPT2, DGUOK, DNA2, EARS2, ECHS1, ENO3, ETFA, ETFB, ETFDH, FARS2, FBXL4, FDX2, FLAD1, FOXRED1, GAA, GBE1, GFER, GYG1, GYS1, HADHA, HADHB, ISCU, LAMP2, LDHA, LIG3, LPIN1, MGME1, MICU1, MSTO1, NDUFA1, NDUFA11, NDUFA6, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF8, NDUFB10, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL, PFKM, PGAM2, PGK1, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PNPLA2, PNPLA8, POLG, PUS1, PYGM, RBCK1, RNASEH1, RRM2B, SDHA, SDHAF1, SDHB, SDHD, SLC16A1, SLC22A5, SLC25A32, TAZ, TIMMDC1, TK2, TMEM126B, TWNK, TYMP, YARS2.

CARACTERÍSTICAS

Tiempo de respuesta: 30-35 días

DESCRIPCIÓN

Las leucodistrofias representan un grupo heterogéneo de enfermedades hereditarias degenerativas de la mielina cerebral que produce una amplia afectación de la sustancia blanca. Las manifestaciones clínicas son muy variadas, lo que dificulta su diagnóstico. Este estudio comprende el análisis de 72  genes relacionados con diferentes tipos de leucodistrofia.

AARS2, ABCD1, ACER3, ACOX1, ADAR, AIFM1, AIMP1, ALDH3A2, ARSA, ASPA, BCAP31, CLCN2, COA8, CSF1R, CYP27A1, DARS1, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FAM126A, FOLR1, FUCA1, GALC, GBE1, GFAP, GJA1, GJC2, HEPACAM, HIKESHI, HSD17B4, HSPD1, IFIH1, ISCA2, LMNB1, MLC1, MTHFS, NADK2, NDUFA2, NKX6-2, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PLP1, POLR1C, POLR3A, POLR3B, PSAP, RARS1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RPIA, SAMHD1, SCP2, SLC17A5, SOX10, SUMF1, TREM2, TREX1, TUBB4A, TYROBP, UFM1, VPS11

CARACTERÍSTICAS

DESCRIPCIÓN

La paraparesia espástica hereditaria (HSP) comprende un grupo genético y clínicamente heterogéneo de trastornos neurodegenerativos cuyos signos y síntomas predominantes son la debilidad y la espasticidad de las extremidades inferiores. Ofrecemos diferentes aproximaciones para el estudio de diversos tipos de paraparesia espástica así como un panel general que incluye 82 genes asociados a la patología.

ADAR, ALDH18A1, ALDH3A2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ARSI, ATAD3A, ATL1, ATP13A2, ATP2A4, B4GALNT1, BICD2, BSCL2, C19orf12, CAPN1, CCT5, CPT1C, CYP2U1, CYP7B1, DDHD1, DDHD2, DNM2, DSTYK, ENTPD1, ERLIN1, ERLIN2, FA2H, FAR1, FARS2, FLRT1, GAD1, GBA2, GJC2, GPT2, GRID2, HACE1, HSPD1, IBA57, KIDINS220, KIF1A, KIF1C, KIF5A, KLC2, KLC4, KY, L1CAM, MAG, MARS1, MTRFR, NIPA1, NT5C2, PGAP1, PLP1, PNPLA6, RAB3GAP2, REEP1, REEP2, RTN2, SELENOI, SLC16A2, SLC33A1, SPART, SPAST, SPG11, SPG21, SPG24, SPG7, TECPR2, TFG, TUBB4A, UBAP1, USP8, VCP, VPS37A, WASHC5, WDR48, ZFR, ZFYVE26, ZFYVE27
ALDH18A1,ATAD3A, BICD2, BSCL2, DNM2, FAR1,KIF5A, KIDINS220, SPG7, TUBB4A, VCP.
ATL1, ATP2B4, CPT1C, KIF1A, ERLIN2,HSPD1, NIPA1, REEP1, REEP2, RTN2, SLC33A1, SPAST, SPG7, UBAP1, WASHC5, ZFYVE27.
ALDH18A1, ALDH3A2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, ARL6IP1, ARSI, ATP13A2, B4GALNT1, C19orf12, CAPN1, CCT5, DDHD2, DSTYK, ENTPD1, ERLIN2, FA2H, FLRT1, GAD1, GBA2, GJC2, GPT2, GRID2, HACE1, IBA57, KIF1A, KIF1C, KLC2,KLC4, KY, MAG, MARS1, MTRFR, NT5C2, PGAP1, PNPLA6, RAB3GAP2, SELENOI, SPART, SPG21, TECPR2, TFG, USP8, VPS37A, WDR48, ZFYVE26.
CYP7B1, DDHD1, ERLIN1, REEP2, SPG7, SPG11, SPG24, ZFR.

CARACTERÍSTICAS

DESCRIPCIÓN

La epilepsia es un trastorno del sistema nervioso central en el que la actividad cerebral normal se altera, provocando convulsiones o períodos de comportamiento y sensaciones inusuales, y hasta pérdida de la consciencia. Las causas subyacentes son múltiples y heterogéneas. Mediante diferentes estudios analizamos diversos fenotipos de epilepsia. Incluimos también un panel específico para el estudio de síndromes epilépticos de aparición en edad neonatal e infantil, así como un panel general para los casos más complejos.

AARS1, ABAT, ACOX1, ACTL6B, ADAR, ADGRV1, ADRA2B, AFG3L2, AKT1, AKT3, ALDH7A1, ALG13, AMT, AP2M1, AP3B2, ARV1, ARFGEF2, ARHGEF9, ARX, ASAH1, ATP1A2, ATP1A3, ATP13A2, ATP6V1A, ATXN1, BRAT1, BRD7, BTD, C3ORF33, CACNA1A, CACNA1B, CACNA1H, CACNB4, CASK, CCM2, CDKL5, CDK19, CELF2, CERS1, CHD2, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6 , CLN8, CLCN2, CLTC, CNPY3, CNKSR2, CNTNAP2, COL4A1, COL4A2, CPA6, CPLX1, CSTB, CTNND2, CTSD, CYFIP2, DALRD3, DCX, DEPDC5, DHDDS, DMXL2, DNAJC5, DNM1, EFHC1, EEF1A2, EPM2A, FANCL, FGF12, FGF13, FKRP, FKTN, FLNA, FMR1, FOLR1, FOXG1, GABRA1, GABRA2, GABRA5, GABRB2, GABRB3, GABRD, GABRG2, GAL, GBA, GJA3, GLI3, GNAQ, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, GUF1, HCN1, ICK, HEATR3, IFIH1, IQSEC2, JRK, KCNA1, KCNB1, KCNC1, KCNN2, KCNQ2, KCNQ3, KCNT1, LARGE1, LGI1, LMNB2, MAPK10, MECP2, MFSD8, NECAP1, NUS1, NEUROD2, NHLRC1, NPRL2, NPRL3, NTRK2, PAFAH1B1, PARS2, PCDH19, PCDH7, PDCD10, PHACTR1, PIK3CA, PIK3R2, PIGA, PIGP, PIGQ , PLCB1, PNKP, PNPO, POMT1, POMT2, POLG, PPT1, PPP3CA, PRDM8, PRICKLE1, PRICKLE2, PRRT2, RELN, RNASEH2A, RNASEH2B, RNASEH2C,SAMD12, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SERPINI1, SIK1, STX1B, ST3GAL3,SLC1A2, SLC12A5, SLC13A5, SLC2A1, SLC25A22, SLC33A1, SLC6A1, SNX27, SPTAN1, STXBP1, SURF1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TCF4, TPK1, TPP1, TRAK1, TREX1, TRIM8, TSC1, TSC2, TUBA1A, WDR45,WDR62, UBA5, YEATS2, WWOX, YWHAG, ZEB2.
AARS1, ACTL6B, ADAR, ADGRV1, AP3B2, ARV1, ARX, ATP1A2, ATP1A3, ATP6V1A, BRAT1, CACNA1A, CACNA1B, CACNA1H, CACNB4, CASK, CDKL5, CDK19, CELF2, CHD2, CILK1, CLCN2, CLTC, CNPY3, CNKSR2, CPLX1, CYFIP2, DALRD3, DHDDS, DMXL2, DNM1, EFHC1, EEF1A2, FGF12, FGF13, GABRA1, GABRA2, GABRA5, GABRB2, GABRB3, GABRD, GABRG2, GLI3, GNAQ, GNAO1, GRIN2A, GRIN2B, GRIN2D, GUF1, HCN1, IFIH1, IQSEC2, JRK, KCNA1, KCNB1, KCNQ2, KCNQ3, KCNT1, MAPK10, NECAP1, NUS1, NEUROD2, NTRK2, PARS2, PCDH19, PHACTR1, PIGA, PIGP, PIGQ, PLCB1, PNKP, PNPO, PPP3CA, PRRT2, RNASEH2A, RNASEH2B, RNASEH2C, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SIK1, SPTAN1, ST3GAL3, STX1B, ST3GAL3,SLC1A2, SLC12A5, SLC13A5, SLC2A1, SLC25A22,SPTAN1, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TRAK1, TREX1, TRIM8, TSC1, TSC2, WDR45, UBA5, WWOX, YWHAG.
AARS1, ACTL6B, ADAR, ARV1, ARX, ATP1A2, ATP1A3, ATP6V1A, BRAT1, CACNA1A, CACNA1B, CASK, CDK19, CDKL5, CELF2, CHD2, CLTC, CNKSR2, CNPY3, CYFIP2, DALRD3, DHDDS, DMXL2, DNM1, EEF1A2, FGF12, FGF13, GABRA1, GABRG2, GABRA2, GABRA5, GABRB2, GNAO1, GRIN2A, GRIN2B, GRIN2D, GUF1, HCN1, IFIH1 , IQSEC2, KCNA1,KCNB1, KCNQ2, KCNT1, MAPK10, NECAP1, NEUROD2,NTRK2, NUS1, PARS2, PDCH19, PHACTR1, PIGA PIGP, PIGQ,PLCB1, PNKP, PPP3CA, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A,SCN9A, SIK1, SLC12A5, SLC13A5, SLC1A2, SLC25A22,SPATAN, ST3GAL3, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TRAK1, TREX1, TRIM8, TSC1, TSC2, UBA5, WWOX, WDR45.
ADGRV1, GABRD, GABRG2, HCN1, KCNMA1, SCN1A, SCN2A, SCN9A, SCN1B, STX1B.
ADGRV1, GABRD, GABRG2, HCN1, SCN1A, SCN1B, SCN2A, SCN9A, STX1B.
AKT3, CCM2, CHRNA2, CHRNA4, CHRNB2, CNTNAP2, COL4A1, COL4A2, CPA6, DEPC5, GAL, GNAQ, GRIN1, GRIN2A, GRIN2B, KCNT1, KCNQ2, NPRL2, NPRL3, PDCD10, PIK3CA, PIGA, PLCB1, RELN, SCN3A, SCN1A, SCN2A, SLC12A5, SLC25A22, TBC1D24.
ADRA2B, AFG3L2, AP2M1, ASAH1, ATP13A2, CACNB4, CERS1, CHD2, CILK1, CLCN2, CLN3, CLN5, CLN6 , CLN8,CNTN2, CTNND2, CPLX1, CSTB, CTSD, CTSF, DNAJC5, EFHC1, EPM2A, FOLR1, GABRA1, GABRD, GBA, GOSR2, GRN, ICK, JRK, KCNC1, KCTD7, KCNQ3, LMNB2, MFSD8, NHLRC1, PINI1, POLG, PPT1, PRDM8, PRICKLE1, PRICKLE2, SAMD12, SCARB2, SERPINI1, SLC2A1, SLC6A1, SNX27, SURF1, SYNGAP1, TBC1D24, TPK1, TPP1.
CPLX1, TBC1D24, CACNB4, CLCN2, CILK1, EFHC1, GABRA1, GABRD, JRK, KCNQ3.

CARACTERÍSTICAS

DESCRIPCIÓN

Los Trastornos del Espectro Autista (TEA), se definen como una disfunción neurológica crónica que pueden manifestarse mediante una serie de síntomas relacionados con la interacción social, la comunicación y la falta de flexibilidad en el razonamiento y comportamiento. La complejidad de las manifestaciones clínicas sugiere una etiología multicausal siendo las alteraciones genéticas la principal causa. Mediante un exoma dirigido analizamos más de 420 genes con una asociación contrastada con el TEA.

ADNP, ACHE, ACTB, ADA, ADCY3, ADSL, AFF2, AGAP2, AHDC1, AHNAK, AKAP9, ALDH5A1, AMPD1, AMT, ANK2, ANK3, ANKRD11, ANKRD17, ANXA1, AP2S1, APBB1, APH1A, ARHGEF9, ARID1B, ARX, ASAP2, ASH1L, ASPM, ASTN2, ASXL3, ATP10A, ATP2B2, ATRX, AUTS2, AVPR1A, BAZ2B, BCKDK, BCL11A, BICRA, BRAF, BRSK2, BTAF1, CACNA1A, CACNA1C, CACNA1D, CACNA1E, CACNA1H, CACNA2D3, CACNB2, CAPRIN1, CASK, CASZ1, CC2D1A, CCNG1, CCT4, CDC42BPB, CDH13, CDKL5, CELF4, CEP135, CEP41, CGNL1, CHAMP1, CHD2, CHD3, CHD7, CHD8, CHMP1A, CHRNA7, CIB2, CIC, CLASP1, CNKSR2, CNOT1, CNOT3, CNR1, CNTN4, CNTN5, CNTN6, CNTNAP2, CNTNAP3, CNTNAP4, CORO1A, CPEB4, CREBBP, CSDE1, CTCF, CTNNB1, CTNND2, CTTNBP2, CUL3, CUL7, CUX1, CYFIP1, DAPP1, DCC, DDHD2, DDX3X, DEAF1, DENR, DHCR7, DIP2A, DIP2C, DISC1, DLG2, DLG4, DLGAP1, DLX3, DMPK, DNMT3A, DOCK8, DPP10, DPYSL2, DSCAM, DYNC1H1, DYRK1A, EBF3, EFR3A, EHMT1, EIF3G, ELAVL3, ELP2, ELP4, EMSY, EP300, EP400, ERBIN, ETFB, FBN1, FGFR1, FMR1, FOXG1, FOXP1, FOXP2, FRG1, GABRB2, GABRB3, GABRG3, GALNT10, GALNT8, GFAP, GGNBP2, GIGYF1, GIGYF2, GNAI1, GPC4, GPHN, GRIA1, GRIA2, GRID1, GRIK2, GRIK5, GRIN1, GRIN2A, GRIN2B, GRIP1, HDLBP, HECTD4, HECW2, HIVEP2, HIVEP3, HMGN1, HNRNPD, HNRNPF, HNRNPH2, HNRNPK, HNRNPR, HNRNPU, HNRNPUL2, HRAS, ICA1, ILF2, INTS6, IQSEC2, IRF2BPL, ITGB3, JARID2, KANSL1, KAT2B, KAT6A, KATNAL2, KCNB1, KCNJ10, KCNQ2, KCNQ3, KCNS3, KDM3B, KDM4C, KDM5A, KDM5B, KDM5C, KDM6A, KDM6B, KIAA0232, KIAA1586, KIF14, KIF1A, KIRREL3, KMT2A, KMT2C, KMT2E, KMT5B, LAMB1, LDB1, LEO1, LMX1B, LRP1, LRRC4C, LZTR1, MACROD2, MAGEL2, MAP1A, MAPT-AS1, MBD5, MBOAT7, MECP2, MED13, MED13L, MEF2C, MEIS2, MET, MFRP, MIR137, MKX, MSL3, MSNP1, MTOR, MYH10, MYH9, MYO5A, MYO9B, MYT1L, NAA15, NACC1, NAV2, NBEA, NCKAP1, NCOA1, NCOR1, NEXMIF, NF1, NFE2L3, NINL, NIPBL, NLGN1, NLGN2, NLGN3, NLGN4X, NR3C2, NR4A2, NRXN1, NRXN2, NRXN3, NSD1, NSD2, NUAK1, NUDCD2, NUP155, OPHN1, OR52M1, OTUD7A, OXTR, P2RX5, P4HA2, PACS1, PAH, PAK2, PARD3B, PAX5, PCCB, PCDH19, PER2, PHB, PHF12, PHF2, PHF21A, PHF3, PHF7, PHIP, PHRF1, PLCB1, PLXNA4, PLXNB1, POGZ, POMGNT1, PON1, PPP1R9B, PPP2R5D, PPP5C, PREX1, PRICKLE1, PRICKLE2, PRKCB, PRKD2, PRKN, PRODH, PRR12, PSMD12, PTCHD1, PTCHD1-AS, PTEN, PTK7, PTPN11, PYHIN1, QRICH1, RAB2A, RAB43, RAI1, RALGAPB, RANBP17, RBFOX1, RBM27, RELN, RERE, RFX3, RIMS1, ROBO2, RORB, SAE1, SATB1, SBF1, SCAF4, SCN1A, SCN2A, SCN8A, SCN9A, SEMA5A, SET, SETBP1, SETD2, SETD5, SHANK1, SHANK2, SHANK3, SHOX, SIN3A, SIN3B, SKI, SLC12A5, SLC35B1, SLC38A10, SLC6A1, SLC6A3, SLC7A3, SLC7A5, SLC9A6, SLITRK5, SMAD4, SMARCA2, SMARCA4, SMARCC2, SNX5, SON, SORCS3, SOX5, SPARCL1, SPAST, SPEN, SPTBN1, SRCAP, SRPRA, SRSF11, ST8SIA2, STXBP1, STXBP5, SUPT16H, SYN1, SYNGAP1, TAF6, TANC2, TAOK1, TAOK2, TBC1D31, TBCK, TBL1XR1, TBR1, TCF20, TCF4, TCF7L2, TEK, TERF2, TET2, TLK2, TM9SF4, TMLHE, TNRC6B, TRAF7, TRAPPC9, TRIM23, TRIO, TRIP12, TRPC6, TRPM1, TSC1, TSC2, TSHZ3, UBE3A, UBE3C, UBN2, UBR1, UBR5, UNC79, UPF3B, USP15, USP45, USP7, USP9X, VEZF1, VIL1, VPS13B, WAC, WDFY3, WDFY4, WWOX, ZBTB20, ZC3H4, ZMIZ1, ZMYM2, ZMYND11, ZMYND8, ZNF292, ZNF462, ZNF804A.

CARACTERÍSTICAS

DESCRIPCIÓN

La discapacidad intelectual hace referencia a un grupo de trastornos cognitivos de causa heterogénea y compleja con un componente genético en la mayoría de los casos. Los avances en la genética han incrementado la tasa diagnóstica de los estudios actuales hasta en un 30-40% de los pacientes. Nuestro exoma dirigido analiza más de 580 genes asociados a discapacidad intelectual.

AAAS, AASS, ABAT, ABCB11, ABCD1, ABHD5, ACADS, ACSL4, ADAT3, ADGRG1, ADSL, AGA, AGTR2, AHI1, AIMP1, ALDH18A1, ALDH3A2, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALKBH8, AMT, AP1G1, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARL3, ARMC9, ARSA ARX, ASH1L, ASPA, ASPM, ASXL1, ASXL3, ATP6AP2, ATP7A, ATP8A2, ATRX, AUH, B3GALNT2, B3GLCT, B3GNT2, B4GALT1, B9D1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BRAF, BRCA2, BRIP1, BRSK2, BRWD3, BSCL2, BTD, C5ORF42, C12ORF4, CA2, CA8, CACNA1C, CACNG2, CAMK2A, CAMK2B, CANT1, CBS, CBY1, CC2D1A, CC2D2A, CCBE1, CD96, CDH15, CDK5RAP2, CDKL5, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP290, CEP41, CHD7, CHKB, CHMP1A, CIC, CLIC2, CLIP1, CLN3, CLCN4, CLN5, CLN6, CLN8, CLTC, CNKSR2, COG1, COG4, COG5, COG6, COG7, COG8, COL2A1, COL4A1, COMP, COQ2, COQ4, COQ6, COQ8A, COQ9, CPS1, CRADD, CRBN, CRPPA, CSNK2B, CSPP1, CTCF, CTNNB1, CTSA, CTSD, CUL4B, CUX1, CYB5R3, CYP27A1, DARS2, DCPS, DCX, DDC, DDOST, DDX59, DHCR7, DKC1, DLG3, DLL1, DNAJC19, DOCK8, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPF2, DPYD, DYM, DYNC1H1, DYRK1A, EBP, EDC3, EEF1A2, EIF2S3, EPB41L1, ERCC2, ERCC3, ERCC4, ERCC6, ERCC8, ERLIN2, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EZR, FAM126A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FBN1, FGD1, FGF14, FGFR1, FGFR2, FGFR3, FH, FKRP, FKTN, FLNA, FMN2, FOXG1, FOXL2, FRMPD4, FRRS1L, FTCD, FTSJ1, FUCA1, GABRG2, GALC, GALE, GALNS, GALT, GAMT, GAN, GATAD2B, GATM, GBA, GCDH, GCH1, GCSH, GDI1, GFAP, GJB1, GJB6, GJC2, GK, GLB1, GLDC, GLI3, GLYCTK, GM2A, GMPPB, GNAS, GNE, GNPTAB, GNPTG, GNS, GPC3, GPHN, GPI, GRIA3, GRIK2, GRIN1, GRIN2B, GRM7,GSS, GUSB, HCCS, HCFC1, HDAC8, HEXA, HEXB, HGSNAT, HIVEP2, HNMT, HPRT1, HRAS, HSD17B10, HSPD1, HSPG2, HUWE1, HYAL1, HYLS1, IDS, IDUA, IGBP1, IL1RAPL1, INPP5E, INSR, IQSEC2, ITPR1, JAG1, KATNIP, KCNC3, KCNJ10, KCNQ5, KDM5B, KDM5C, KDM6A, KIAA0586, KIF1A, KIF7, KIRREL3, KMT2D, KNL1, KRAS, L1CAM, L2HGDH, LAMA2, LAMP2, LARGE1, LINS1, LMAN2L, LRP5, MAN1B1, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, MASP1, MBD5, MBOAT7, MCOLN1, MCPH1, MECP2, MED12, MED23, MED25, METTL23, MFSD8, MGAT2, MID1, MID2, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MOCS1, MOCS2, MOGS, MPDU1, MPI, MTHFR, MTR, MVK, MYCN, MYO5A, MYT1L, NAA10, NAGLU, NBN, NBEA, NCDN, NDE1, NDP, NDST1, NECTIN1, NEMF, NEXHIF, NFIX, NGLY1, NHS, NIPBL, NLGN4X, NLRP3, NOTCH2, NOTCH3, NPC1, NPC2, NPHP1, NPHP3, NRAS, NSD1, NSDHL, NSUN2, NTRK1, OCRL, OFD1, OPA3, OPHN1, OTC, PACS1, PAFAH1B1, PAH, PAK3, PALB2, PAX3, PAX6, PCBD1, PCCA, PCDH19, PDHA1, PDSS1, PDSS2, PEPD, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGK1, PGM1, PHC1, PHF6, PHF8, PIBF1, PIGL, PLA2G6, PLP1, PMM2, PNKP, PNP, PNPO, POLR3A, POLR3B, POMGNT1, POMGNT2, POMT1, POMT2, PORCN, PPT1, PPP3CA, PQBP1, PRKAR1A, PRICKLE2, PRPS1, PRSS12, PSAP, PTCH1, PTCHD1, PTEN, PTPN11, PTS, QDPR, RAB11A, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAD21, RAD51C, RAF1, RARS2, RBM10, RECQL4, RELN, RFT1, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, RPGRIP1L, RPS6KA3, RSRC1, RXYLT1, SACS, SAMHD1, SAR1B, SARS1, SBDS, SC5D, SCN1A, SCN2A, SCN9A, SEMA3E, SEPSECS, SET, SETBP1, SETD1B, SGSH, SH3PXD2B, SHROOM4, SIL1, SLC12A2, SLC12A6, SLC16A2, SLC17A5, SLC1A3, SLC25A15, SLC25A22, SLC2A1, SLC45A1, SLC9A7, SLC35A1, SLC35A2, SLC35C1, SLC46A1, SLC6A19, SLC6A8, SLC7A7, SLC9A6, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE1, SMC1A, SMC3, SMPD1, SMS, SOS1, SOX11, SOX3, SOX4, SPAST, SPG11, SPRED1, SPTAN1, SRD5A3, SRPX2, ST3GAL3, STEEP1, STIL, STXBP1, SUCLA2, SUCLG1, SUFU, SUMF1, SUOX, SYN1, SYNGAP1, SYP, TAT, TAOK1, TBCE, TCF4, TCIRG1, TCTN1, TCTN2, TCTN3, TECR, TGFBR1, TGFBR2, TIMM8A, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM67, TNIK, TPI1, TPP1, TRAPPC9, TREM2, TREX1, TRIM32, TRPM3, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSPAN7, TTC21B, TTC5, TTC8, TUBA1A, TUBB4A, TUSC3, TWIST1, TYROBP, UBE2A, UBE3A, UBE4A, UBR1, UFSP2, UMPS, UPF3B, UROC1, USP27X, USP9X, VLDLR, VPS13B, VRK1, WASHC4, WDPCP, WDR62, ZC3H14, ZDHHC15, ZDHHC9, ZEB2, ZFYVE26, ZMYND11, ZNF335, ZNF423, ZNF711, ZNF81.
ABCD1, ACSL4, AFF2, AGTR2, AMMECR1, AP1S2, AR, ALG13, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCAP31, BCOR, BEX4, BRWD3, CASK, CCDC22, CDK16, CDKL5, CLCN4, CLIC2, CNKSR2, CUL4B, DCX, DKC1, DLG3, DMD, FANCB, FGD1, FLNA, FMR1, FRMPD4, FTSJ1, G6PD, GABRE, GDI1, GK, GPC3, GPC4, GRIA3, HCCS, HCFC1, HDAC6, HDAC8, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IL1RAPL1, IQSEC2, KDM5C, KDM6A, KLF8, L1CAM, LAMP2, MAGT1, MAOA, MAOB, MBTPS2, MECP2, MED12, MID1, MTM1, NAA10, NDP, NDUFA1, NEXMIF, NHS, NLGN3, NLGN4X, NSDHL, NXF5, OCRL, OFD1, OPHN1, OTC, PAK3, PDHA1, PGK1, PHF6, PHF8, PLP1, PLXNA3, PLXNB3, PORCN, PQBP1, PRPS1, PTCHD1, RAB39B, RAB40AL, RBM10, RPS6KA3, RPS6KA6, SHROOM4, SLC16A2, SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SRPX2, STEEP1, SYN1, SYP, TIMM8A, TRPC5, TSPAN7, UBE2A, UPF3B, USP27X, USP9X, VCX3A, WDR45, ZC4H2, ZCCHC12, ZDHHC15, ZDHHC9, ZIC3, ZMYM3, ZNF41, ZNF630, ZNF711, ZNF81.

CARACTERÍSTICAS

DESCRIPCIÓN

La ataxia es un trastorno motor caracterizado por la disminución de la capacidad de coordinar los movimientos, manifestándose como temblor de partes del cuerpo durante la realización de movimientos voluntarios, como dificultad para realizar movimientos precisos o como dificultad para mantener el equilibrio.

AAAS, ABCB7, ABHD12, ADCK3, ADGRG1, AFG3L2, AHI1, ALDH5A1,ANO10, APTX, ARL13B,ATCAY, ATM, ATN1, ATP1A3, ATP8A2, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8,BEAN1, CA8, CACNA1A, CACNB4, CAMTA1, CC2D2A, CCDC88C, CEP290, CHMP1A, CHP1, CLCN2, CLN5, COA7, COQ2, COQ5, COQ8A, COQ9, COX20, CP, CRPPA, CSTB,CWF19L1, CYP27A1, DARS2, DLAT, DNAJC19, DNMT1, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5,EXOSC3, FAT2, FGF14, FLVCR1, FMR1, FXN, GALC, GBA2, GPR56, GRID2, GRM1, GSS, TPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIAA0226, KIF1C, L2HGDH, LARGE1, KIF1C,, MARS2, MECP2, MRE11, MTPAP, MTTP, NEU1, NHLRC1, NKX6-2, NPC1, NPC2, NOP56, OPA1, OPA3, OPHN1, PAX6, PCNA, PDYN, PHYH, PIK3R5, PLA2G6, PLEKHG4, PNKP, PNPLA6, POLG, POLH, POMGNT2, PPP2R2B, PRICKLE1, PRKCG RARS2, RFC1, RNF170,RPGRIP1L, RUBCN, SACS, SAR1B, SEPSECS, SETX, SCN2A, SCN8A, SETX, SIL1, SLC17A5, SLC1A3, SLC2A1, SLC52A2, SLC9A6, SMPD1, SNX14, SPG7, SPTBN2, STUB1, SYNE1, SYT14, TBP, TDP1, TGM6, TMEM240, TMEM67, TSEN2, TSEN54, TTBK2, TTPA, TPP1, TTBK2, TTPA, TUBB4A, TWNK, VAMP1, VLDLR, VLDLR, VPS13A, VWA3B, WDR81, WFS1, WWOX, ZNF592
AFG3L2, ATN1, ATP1A3, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8, BEAN, C9orf72, CACNA1A, DNMT1, EEF2, FGF12, FGF14, GRID2, ITPR1, KCNC3, KCND3, NOP56, PDYN, PPP2R2B, PRKCG, SPTBN2, TBP, TGM6, TMEM240, TTBK2, TUBB4A
ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8, CACNA1A, PPP2R2B, TBP
AFG3L2, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8, BEAN, CACNA1A, EEF2, ELOVL5, FAT2, FGF14, ITPR1, KCNC3, KCND3, NOP56, PDYN, PPP2R2B, PRKCG, SPTBN2, STUB1, TBP, TGM6, TMEM240, TTBK2
ADCK3, COQ5, SMPD1, SYNE1, NPC1, NPC2
ATP1A3, CACNA1A, CACNB4, KCNA1, SCN2A, SLC1A3
AFG3L2, CHP1, KIF1C, MARS2*, MTPAP, NKX6-2, SACS, SPG7, VAMP1
ANO10, APTX, ATM, CYP27A1, CWF19L1, FXN*, GRM1, PEX7, PHYH, PNPLA6, RFC1, RUBCN, SACS, SETX, SIL1, SLC52A2, SNX14, STUB1, SYNE1, TPP1, TTPA, TWNK, VWA3B, WFS1
ATM, APTX, COA7, CYP27A1, SETX, PIK3R5, PNKP
ABCB7, CASK, FMR1*, OPHN1, SLC9A6

CARACTERÍSTICAS

Otros servicios

DESCRIPCIÓN

Ofrecemos diferentes posibilidades diagnósticas a partir de la secuenciación de exoma, entre ellas el estudio de Exoma Clínico y el Exoma Trío para casos familiares.

DESCRIPCIÓN

Realizamos estudios que implican el análisis de un único gen, tanto mediante secuenciación Sanger como por NGS.

DESCRIPCIÓN

Utilizamos la técnica MLPA (Multiplex Ligation-dependent Probe Amplification) para la identificación de deleciones/duplicaciones o alteraciones de metilación en un gen concreto o región específica.

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