- Neurología
Los estudios genéticos pueden ayudar a diagnosticar correctamente a los pacientes afectos de enfermedades neurológicas hereditarias como trastornos del movimiento, alteraciones neuromusculares, discapacidad intelectual o epilepsia, entre otras, y permiten iniciar el tratamiento de una manera temprana modificando el curso de la enfermedad.
Todos los genes incluidos en cada uno de nuestros exomas dirigidos son clínicamente muy relevantes y han sido seleccionados a partir de la información contenida en bases de datos de referencia como OMIM, HGMD, ClinVar y HPO, y en la bibliografía científica más reciente.
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.
ECHS1, PNKD, PRRT2, SLC2A1.
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: 35-45 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
- Tiempo de respuesta: 35-45 días
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.
SMN1, SMN2.
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
DMD, LTBP4.
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.
CNBP, DMPK.
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: 35-45 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
- Tiempo de respuesta: 35-45 días
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.
L1CAM, PLP1, SLC16A2.
CARACTERÍSTICAS
- Tiempo de respuesta: 35-45 días
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
- Tiempo de respuesta: 35-45 días
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
- Tiempo de respuesta: 35-45 días
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.
15q11
15q11
CARACTERÍSTICAS
- Tiempo de respuesta: 35-45 días
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
ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7
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
FXN*, POLG, TTPA
ATM, APTX, COA7, CYP27A1, SETX, PIK3R5, PNKP
ABCB7, CASK, FMR1*, OPHN1, SLC9A6
CARACTERÍSTICAS
- Tiempo de respuesta: 35-45 días
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.
Muestras aceptadas
- Sangre EDTA (1x 5 ml)
- Saliva (kit específico Isohelix)
- Exudado bucal (2x isopos estériles)
- ADN aislado (>1 μg en >20 μl buffer TE)
Recuerde etiquetar cada muestra con el nombre y apellidos del paciente o con el identificador utilizado en la hoja de petición.
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.
ECHS1, PNKD, PRRT2, SLC2A1.
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: 35-45 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
- Tiempo de respuesta: 35-45 días
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.
SMN1, SMN2.
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
DMD, LTBP4.
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.
CNBP, DMPK.
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: 35-45 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
- Tiempo de respuesta: 35-45 días
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.
L1CAM, PLP1, SLC16A2.
CARACTERÍSTICAS
- Tiempo de respuesta: 35-45 días
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
- Tiempo de respuesta: 35-45 días
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
- Tiempo de respuesta: 35-45 días
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.
15q11
15q11
CARACTERÍSTICAS
- Tiempo de respuesta: 35-45 días
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
ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7
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
FXN*, POLG, TTPA
ATM, APTX, COA7, CYP27A1, SETX, PIK3R5, PNKP
ABCB7, CASK, FMR1*, OPHN1, SLC9A6
CARACTERÍSTICAS
- Tiempo de respuesta: 35-45 días
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.
- Neurología
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.
ECHS1, PNKD, PRRT2, SLC2A1.
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: 35-45 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
- Tiempo de respuesta: 35-45 días
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.
SMN1, SMN2.
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
DMD, LTBP4.
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.
CNBP, DMPK.
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: 35-45 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
- Tiempo de respuesta: 35-45 días
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.
L1CAM, PLP1, SLC16A2.
CARACTERÍSTICAS
- Tiempo de respuesta: 35-45 días
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
- Tiempo de respuesta: 35-45 días
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
- Tiempo de respuesta: 35-45 días
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.
15q11
15q11
CARACTERÍSTICAS
- Tiempo de respuesta: 35-45 días
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
ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7
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
FXN*, POLG, TTPA
ATM, APTX, COA7, CYP27A1, SETX, PIK3R5, PNKP
ABCB7, CASK, FMR1*, OPHN1, SLC9A6
CARACTERÍSTICAS
- Tiempo de respuesta: 35-45 días
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.