Logo-Dreamgenics
Logo-Dreamgenics

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
Áreas clínicas
Trastornos del movimiento
Demencia
Enfermedades neuromusculares
Leucodistrofias
Paraparesia espástica
Epilepsia
Trastorno del espectro autista
Discapacidad intelectual
Ataxia
Estudios más amplios
DG Exome®
DG Clinical Exome®
Documentación
Hoja de solicitud
Muestras aceptadas
  • Sangre EDTA (1x 5 ml)
  • Saliva (kit específico Isohelix)
  • Exudado bucal (2x isopos estériles)
  • gDNA (>30 ng/μl en >100 μl buffer TE)

Recuerde etiquetar cada muestra con el nombre y apellidos del paciente o con el identificador utilizado en la hoja de petición.

Trastornos del movimiento

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.

Estudios incluidos
Enfermedad de Parkinson
ATP13A2, CHCHD2, DNAJC6, FBXO7, GBA1, LRRK2, MAPT, PARK7, PINK1, PLA2G6, PRKN, SNCA, SYNJ1, VPS13C, VPS35.
GBA1, LRRK2, MAPT, PRKN, SNCA, VPS35.
CHCHD2, DNAJC6, LRRK2, PARK7, PINK1, PRKN, SNCA, SYNJ1, VPS13C.
Trastornos parkinsonianos

ATP13A2, ATP6AP2, COQ2, DCTN1, FBXO7, GCH1, GRN, LRRK2, LYST, MAPT, OPA1, OPA3, PLA2G6, PTRHD1, RAB39B, SNCA, SPG11, SYNJ1, TWNK, UQCRC1, VPS13A, VPS13C, ZFYVE26.

Distonía
ACTB, ADAR, ADCY5, ANO3, APTX, ARSA, ATM, ATN1, ATP13A2, ATP1A3, ATP7B, BCAP31, BTD, C19ORF12, CACNA1A, CACNA1B, CBS, CIZ1, CLN3, CLN5, CLN6, CLN8, COASY, COL6A3, COX20, CP, CSTB, CTSD, CTSF, D2HGDH, DCAF17, DLAT, DNAJC12, DNAJC5, ECHS1, EIF2AK2, FA2H, FBXO7, FOXG1, FTL, FUCA1, GALC, GALT, GAMT, GATM, GCDH, GCH1, GLB1, GM2A, GNAL, GNAO1, GNB1, GRN, HPCA, HPRT1, HTRA2, KCNMA1, KCTD17, KCTD7, KMT2B, MCEE, MECP2, MECR, MFSD8, MMAA, MMAB, MMADHC, MMUT, NKX6-2, NPC1, NPC2, NUP54, PAH, PANK2, PDE10A, PDGFB, PDGFRB, PINK1, PLA2G6, PLP1, PNKD, POLG, PPT1, PRKN, PRKRA, PRRT2, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SERAC1, SGCE, SHQ1, SLC18A2, SLC19A3, SLC20A2, SLC2A1, SLC30A10, SLC39A14, SLC6A19, SLC6A3, SLC6A8, SPR, SUCLA2, SYNJ1, TAF1, TH, THAP1, TIMM8A, TMEM151A, TOR1A, TPP1, TREX1, TSPOAP1, TUBB4A, VPS13A, VPS16, WARS2, WDR45, WDR73, XK, XPR1, YY1.
ANO3, COL6A3, GNAL, HPCA, KMT2B, PDE10A, THAP1, TOR1A, TUBB4A.
ATP1A3, FBOX7, GCH1, PINK1, PRKRA, SLC18A2, SLC30A10, SLC6A3, SPR, SYNJ1, TAF1, TH, TUBB4A, WARS2.
KCTD17, SGCE.
ECHS1, KCNMA1, PNKD, PRRT2, SLC2A1.
ADAR, ARSA, ATN1, ATP13A2, ATP7B, BTD, C19ORF12, CBS, CLN3, CLN5, CLN6, CLN8, CP, CTSD, CTSF, D2HGDH, DCAF17, DNAJC5, FA2H, FOXG1, FTL, FUCA1, GALC, GALT, GAMT, GATM, GCDH, GLB1, GM2A, GNB1, GRN, HPRT1, KCTD7, MCEE, MECP2, MFSD8, MMAA, MMAB, MMADHC, MMUT, NPC1, NPC2, PAH, 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, WDR73, XK, XPR1, YY1.
Exoma dirigido
Información
  • Análisis: SNVs, Indels y CNVs
  • Cobertura media: >100X
  • Plazo de entrega: 30 días laborables

Demencia

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.

Estudios incluidos
Exoma dirigido
APOE, APP, ARSA, CCNF, CSF1R, CHCHD10, CHMP2B, CTSF, CYLD, CYP27A1, DCTN1, DNAJC5, FUS, GRN, HNRNPA1, HNRNPA2B1, ITM2B, MAPT, PSEN1, PSEN2, SNCA, SNCB, SQSTM1, TARDBP, TBK1, TMEM106B, TREM2, TUBA4A, UBQLN2, VCP.
APP, APOE (alelo e4), C9orf72, GRN, MAPT, PSEN1, PSEN2, TREM2.
GRN, MAPT, PSEN1, PSEN2, TREM2.
CCNF, CHCHD10, CHMP2B, CYLD, DCTN1, FUS, GRN, HNRNPA1, HNRNPA2B1, MAPT, OPTN, PSEN1, PSEN2, SQSTM1, TARDBP, TBK1, TMEM106B, TREM2, TUBA4A, UBQLN2, VCP.
CCNF, CHCHD10, CHMP2B, CYLD, FUS, SQSTM1, TARDBP, TBK1, VCP.
C9orf72.
Información
  • Análisis: SNVs, Indels y CNVs
  • Cobertura media: >100X
  • Plazo de entrega: 30 días laborables

Enfermedades neuromusculares

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.

Estudios incluidos
Enfermedad de las neuronas motoras
AGTPBP1, ALS2, ANG, ANXA11, ATXN2, AR, ASAH1, ASCC1, ATP7A, BICD2, BSCL2, CCNF,CFAP410, CHCHD10, CHMP2B, DAO, DCTN1, DES, DNAJB2, DYNC1H1, EPHA4, ERBB4, ERLIN2, EXOSC3, EXOSC8, EXOSC9, FBXO38, FIG4, FUS, GARS1, GLE1, GLT8D1, GRN, HNRNPA1, HSPB1, HSPB3, HSPB8, IGHMBP2, LAS1L, LRP12, MATR3, MOBP, MYH14, NAIP, NEFH, NEK1, OPTN, PFN1, PLEKHG5, PON1, PON2, PON3, PPARGC1A, PRPH, REEP1, SCFD1, SETX, SIGMAR1, SLC12A6, SLC25A46, SLC52A1, SLC52A2, SLC52A3, SLC5A7, SMN1, SMN2, SOD1, SPG11, SPAST, SPTLC1, SQSTM1, TAF15, TARDBP, TBCE, TBK1, TIA1, TREM2, TRIP4, TRPV4, TSEN15, TSEN2, TSEN34, TSEN54, TUBA4A, UBA1, UBQLN2, UNC13A, VAPB, VCP, VRK1, VWA1.
ALS2, ANG, ANXA11, CCNF, CHCHD10, CHMP2B, DAO, DCTN1, ERBB4, FIG4, FUS, GLE1, GLT8D1, GRN, HNRNPA1, KIF5A, LRP12, MATR3, NEFH, NEK1, OPTN, PFN1, PRPH, SETX, SIGMAR1, SLC52A1, SLC52A2, SLC52A3, SOD1, SPG11, SPAST, SPTLC1, SQSTM1, TAF15, TARDBP, TBK1, TIA1, TUBA4A, UBQLN2, VAPB, VCP.
SMN1, SMN2.
CCNF, CHCHD10, CHMP2B, CYLD, FUS, SQSTM1, TARDBP, TBK1, VCP.
C9orf72.
Neuropatías
AARS1, ABCA1, ABCD1, ABHD12, AGTPBP1, AGXT, AIFM1, AP1S1, APOA1, APTX, AR, ARHGEF10, ARSA, ATL1, ATL3, ATM, ATP1A1, ATP7A, ATXN1, ATXN10, ATXN2, ATXN3, B4GALNT1, BAG3, BCKDHB, BICD2, BSCL2, CADM3, CCT5, CD59, CFAP276, CHCHD10, CLCF1, CNTNAP1, COA7, COQ7, COX10, COX6A1, CPOX, CRLF1, CTDP1, CYP27A1, DARS2, DCTN1, DCTN2, DCAF8, DEGS1, DHTKD1, DMXL2, DNAJB2, DNAJC3, DNM2, DNMT1, DRP2, DST, DYNC1H1, EGR2, ELP1, EMILIN1, ERCC6, ERCC8, ETFDH, FAH, FBLN5, FBXO38, FGD4, FIG4, FLVCR1, FMR1, FXN, GALC, GAN, GARS1, GBA2, GDAP1, GJB1, GJB3, GJC2, GLA, GNB4, HADHA, HADHB, HARS1, HINT1, HK1, HMBS, HOXD10, HSPB1, HSPB3, HSPB8, HYCC1, IARS2, IGHMBP2, INF2, ITPR3, JAG1, JPH1, KARS1, KCNA2, KIF1A, KIF1B, KIF5A, KLC2, LITAF, LMNA, LRP12, LRSAM1, LYST, MARS1, MCM3AP, MFN2, MMACHC, MME, MORC2, MPV17, MPZ, MTMR2, MTRFR, MTTP, MYH14, NAGA, NAGLU, NDC1, NDRG1, NEFH, NEFL, NGF, NOD2, NTRK1, OPA3, PDHA1, PDK3, PDYN, PEX10, PEX7, PHYH, PLEKHG5, PLP1, PMM2, PMP2, PMP22, PNKP, PNPLA6, POLG, POLR3A, PPOX, PRDM12, PRKCG, PRNP, PRPS1, PRX, PTEN, PTPN11, PTRH2, RAB7A, REEP1, RETREG1, RTN2, SACS, SARS1, SBF1, SBF2, SCARB2, SCN10A, SCN11A, SCN9A, SCO2, SCYL1, SEPTIN9, SETX, SH3TC2, SIGMAR1, SGPL1, SLC12A6, SLC25A19, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SORD, SOX10, SPART, SPAST, SPTAN1, SPG11, SPG7, SPTBN4, SPTLC1, SPTLC2, SUCLA2, SURF1, SYT2, TFG, TRIM2, TRPA1, TRPV4, TTPA, TTR, TUBB3, TYMP, TWNK, UBA1, VAPB, VCP, VPS13A, VRK1, VWA1, WARS1, WNK1, XK, XPA, 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, FXN, GAN, GARS1, GDAP1, GJB1, GJB3, GNB4, HADHB, HARS1, HINT1, HK1, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, ITPR3, JAG1, JPH1, KARS1, KIF1B, KIF5A, KLC2, LITAF, LMNA, LRSAM1, MARS1, MCM3AP, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, MTRFR, NAGLU, NDRG1, NEFH, NEFL, PDK3, PLEKHG5, PMP2, PMP22, PNKP, PRPS1, PRX, PTRH2, RAB7A, SARS1, SBF1, SBF2, SCO2, SCYL1, SETX, SGPL1, SH3TC2, SIGMAR1, SLC12A6, SLC25A46, SLC52A2, SLC52A3, SORD, SPG11, SPTLC1, SURF1, TFG, TRIM2, TRPV4, VCP, VRK1, VWA1, WARS1, YARS1.
AARS, AGTPBP1, ASAH1, ATP7A, BICD2, BSCL2, CHCHD10, COQ7, DCTN1, DNAJB2, DYNC1H1, EMILIN1, FBXO38, GARS, HARS, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, LRP12, MFN2, MORC2, PLEKHG5, REEP1, RTN2, SPTAN1, SETX, SIGMAR1, SLC52A2, SLC52A3, SLC5A7, SORD, SPTAN1, SYT2, TFG, TRIP4, TRPV4, UBA1, VAPB, VRK1, VWA1, WARS.
ATL1, ATL3, CCT5, DNMT1, DST, ELP1, HK1, KIF1A, NGF, NTRK1, PRDM12, RETREG1, SCN11A, SCN9A, SPTLC1, SPTLC2, WNK1.
Miastenia Congénita
AGRN, ALG14, ALG2, CACNA1A, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CIAO1, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LAMA5, LAMB2, LRP4, MUSK, MYO9A, PLEC, PREPL, RAPSN, RPH3A, RYR1, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYT15, SYT2, TOR1AIP1, UNC13A, VAMP1.
Miopatías
AARS2, ABHD5, ACAD9, ACADM, ACADS, ACADVL, ACTA1, ACTN2, ADSS1, AGK, AGL, AIFM1, ALDOA, AMPD1, AMPD3, ANO5, ASCC1, ASCC3, B3GALNT2, B4GAT1, BAG3, BCS1L, BET1, BIN1, BVES, C1QBP, CACNA1S, CAPN3, CASQ1, CAVIN1, CCDC174, CCDC78, CFL2, CHCHD10, CHKB, CIAO1, CNBP, CNTN1, COL12A1, COL13A1, COL25A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COQ2, COQ8A, COQ9, COX10, COX15, COX6A2, CPT2, CRPPA, CRYAB, DAG1, DES, DGUOK, DMD, DMPK, DNA2, DNAJB4, DNAJB6, DNM2, DNMT3B, DOK7, DOLK, DPM1, DPM2, DPM3, DTNA, DUX4, DYSF, EARS2, ECEL1, ECHS1, EMD, ENO3, EPG5, ETFA, ETFB, ETFDH, ETHE1, FARS2, FBXL4, FDX2, FHL1, FKRP, FKTN, FLAD1, FLNC, FOXRED1, FRG1, FXR1, GAA, GBE1, GFER, GGPS1, GIPC1, GMPPB, GNE, GOLGA2, GOSR2, GYG1, GYS1, HACD1, HADHA, HADHB, HMGCR, HNRNPA2B1, HNRNPDL, HSPB1, HSPB8, HSPG2, IARS2, INPP5K, ISCU, ITGA7, JAG2, KBTBD13, KIF21A, KLHL24, KLHL40, KLHL41, KLHL9, LAMA2, LARGE1, LDB3, LDHA, LETM1, LIG3, LIMS2, LMNA, LMOD3, LPIN1, LRIF1, LRPPRC, LTBP4, MAMLD1, MAP3K20, MATR3, MGME1, MICU1, MSTO1, MTM1, MTMR14, MYBPC1, MYF6, MYH2, MYH3, MYH7, MYL1, MYL2, MYMK, MYO18B, MYOD1, 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, NEFL, NOTCH2NLC, NUBPL, OPA1, ORAI1, PABPN1, PAX7, PDHA1, PDHB, PDHX, PFKM, PGAM2, PGK1, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PHOX2A, PIEZO2, PLEC, PNPLA2, PNPLA8, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POPDC3, PUS1, PYGM, PYROXD1, RBCK1, RNASEH1, RRM2B, RXYLT1, RYR1, RYR3, SDHA, SDHAF1, SDHB, SDHD, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SLC16A1, SLC19A3, SLC22A5,SLC25A20, SLC25A32, SLC25A4, SMCHD1, SMPX, SNUPN, SPEG, SQSTM1, STAC3, STIM1, SYNE1, SYNE2, TCAP, TIA1, TIMMDC1, TK2, TMEM126B, TMEM43, TMEM65,TNNC2, TNNI2, TNNT1, TNNT3, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIP4, TSFM, TTN, TUBB2B, TUBB3, TWNK, TYMP, UNC45B, VCP, VMA21, WWTR1, YARS2, ZC4H2.
Distrofias musculares
ACTA1, ANO5, B3GALNT2, B4GAT1, BET1 BVES, CAPN3, CAVIN1 CHKB, CIAO1, CNBP, COL12A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, CRPPA, DAG1, DMD, DNAJB6, DNMT3B, DOLK, DPM1, DPM2, DPM3, DTNA, DUX4, DYSF, EMD, FHL1, FKRP, FKTN, GGPS1, GMPPB, GOLGA2, GOSR2, HNRNPA2B1, HNRNPDL, INPP5K, ITGA7, JAG2, LAMA2, LARGE1, LIMS2, LMNA, MICU1, MSTO1, MYH7, MYMK, MYOT, NOTCH2NLC, PABPN1, PLEC, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PYROXD1, RXYLT1, RYR1, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SMCHD1, SYNE1, SYNE2, TCAP, TMEM5, TMEM43, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TRIP4, TTN, TUBB3, VMA21.
DNMT3B, DUX4, FHL1, FRG1, MYH7, SMCHD1.

DMD.

DMD.

ANO5, BVES, CAPN3, CRPPA, DAG1, DES, DNAJB6, DPM3, DYSF, FKRP, FKTN, GMPPB, GNE, HMGCR, HNRNPDL, JAG2, LAMA2, PLEC, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POPDC3, SGCA, SGCB, SGCD, SGCG, SNUPN, TCAP, TNPO3, TRAPPC11, TRIM32, TTN.
PABPN1.
EMD, FHL1, LMNA, SYNE1, SYNE2, TMEM43, TTN.
CNBP, DMPK.
ACTA1, ADSS1, ANO5, BAG3, CAV3, CNBP, CRYAB, DES, DMD, DMPK, DNAJB6, DNM2, DUX4, DYSF, EMD, FHL1, FLNC, GIPC1, GNE, HSPB1, HSPB8, KLHL9, LDB3, LMNA, LRIF1, MATR3, MYH7, MYOT, NEB, SELENON, SMPX, SQSTM1, TCAP, TIA1, TRPV4, TTN, VCP.
Miopatías congénitas
ACTA1, ACTN2, ADSS1, ASCC1, ASCC3, BIN1, CACNA1S, CASQ1, CCDC174, CCDC78, CFL2, CNTN1, COL12A1, COL13A1, COL25A1, COL6A1, COL6A2, COL6A3, DNAJB4, DNM2,DOK7, ECEL1, EPG5, FHL1, HACD1, ITGA7, KLHL40, KLHL41, LETM1, LMNA LMOD3, MAMLD1, MAP3K20, MEGF10, MTM1, MTMR14, MYBPC1, MYF6, MYH2, MYH3, MYH7, MYL1, MYL2, MYO18B, MYPN, MYOD1, NEB, ORAI1, PAX7, PIEZO2, RYR1, RYR3, SELENON, SLC25A4, SPEG, STAC3, STIM1, TNNC2, TNNI2, TNNT1, TNNT3, TPM2, TPM3, TTN, UNC45B, VMA21, ZC4H2.
ACTA1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3, MYPN, NEB, NEFL, RYR3, TNNT1, TPM2, TPM3.
ACTA1, ACTN2, FXR1, RYR1.
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, ETHE1, FARS2, FBXL4, FDX2, FLAD1, FOXRED1, GAA, GBE1, GFER, GYG1, GYS1, HADHA, HADHB, IARS2, ISCU, KLHL24, LAMP2, LDHA, LIG3, LPIN1, LRPPRC, 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,OPA1, PDHA1, PDHB, PDHX, PFKM, PGAM2, PGK1, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PNPLA2, PNPLA8, POLG, POLG2, PUS1, PYGM, RBCK1, RNASEH1, RRM2B, RYR1, SDHA, SDHAF1, SDHB, SDHD, SLC16A1, SLC19A3, SLC22A5, SLC25A20, SLC25A32, TIMMDC1, TK2, TMEM126B, TMEM65, TSFM, TWNK, TYMP, WWTR1, YARS2.
Exoma dirigido
Información
  • Análisis: SNVs, Indels y CNVs
  • Cobertura media: >100X
  • Plazo de entrega: 30 días laborables

Leucodistrofias

Estudios incluidos

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.

AARS1, AARS2, ABCD1, ACBD5, ACER3, ADAR, ACOX1, AIFM1, AIMP1, ALDH3A2, APP, ARSA, ASPA, ATPAF2, AUH, BCAP31, CLCN2, CLDN11, COA8, COQ2, COQ8A, COL4A1, COL4A2, COX10, CSF1R, CST3, CTC1, CTSA, CYP27A1, DARS1, DARS2, DEGS1, DGUOK, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EPRS1, ERCC2, ERCC3, ERCC6, ERCC8, FA2H, FOLR1, FUCA1, GALT, GALC, GBE1, GCDH, GFAP, GFM1, GJA1, GJB1, GJC2, HEPACAM, HEXA, HIKESHI, HMGCL, HSD17B4, HSPD1, HTRA1, HYCC1, ISCA2, ITM2B, KIF5A, L2HGDH, LAMB1, LARS2, LIG3, LMNB1, MAL, MARS1, MCOLN1, MLC1, MRPS16, MTHFR, NADK2, NDUFA2, NDUFS7, NDUFV1, NKX6-2, NOTCH3, NPC1, PAH, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PLEKHG2, PLP1, POLR1A, POLR1C, POLR3A, POLR3B, POLR3K, PRNP, PSAP, PSEN1, PYCR2, RARS1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF216, RNF220, RPIA, SAMHD1, SLC16A2, SLC35B2, SNORD118, SPG11, SPG21, SCP2, SLC7A2, SOX10, SUMF1, TMEM163, TMEM106B, TMEM63A, TPP2, TREM2, TREX1, TTR, TUBB4A, TWNK, TYMP, TYROBP, UFM1, VPS11, ZFYVE26.
AARS2, ABCD1, ACBD5, ACER3, ADAR, ACOX1, AIFM1, AIMP1, AIMP2, ALDH3A2, ARSA, ASPA, ATPAF2, BCAP31, CLDN11, CNP, COA8, COQ2, COQ9, COX10, CYP27A1, DARS1, DEGS1, DGUOK, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EPRS1, ERCC2, ERCC3, ERCC6, ERCC8, FOLR1, FUCA1, GALT, GBE1, GFAP, GFM1, GJA1, GJC2, HIKESHI, HSD17B4, HSPD1, HYCC1, ISCA2, LARS2, LMNB1, MLC1, MPLKIP, MRPS16, NADK2, NDUFS7, NKX6-2, PEX1, PEX10, PEX12, PEX13, PEX5, PLEKHG2, PLP1, POLR1A, POLR1C, POLR3A, POLR3B, POLR3K, PSAP, PYCR2, RARS1, RNASEH2A, RNASEH2C, RNF113A, RNF220, SAMHD1, SLC16A2, SLC35B2, SOX10, SUMF1, TMEM163, TMEM106B, TMEM63A, TREX1, TUBB4A, TWNK, UFM1, VPS11.
Exoma dirigido
Información
  • Análisis: SNVs, Indels y CNVs
  • Cobertura media: >100X
  • Plazo de entrega: 30 días laborables

Paraparesia espástica

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 100 genes asociados a la patología.

Estudios incluidos
ABCD1, ABHD16A, ADAR, AFG3L2, AIMP1, ALDH18A1, ALDH3A2, ALS2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ARG1, ARSI, ATAD3A, ATL1, ATP13A2, ATP2B4, B4GALNT1, BICD2, BSCL2, C19orf12, CAPN1, CCT5, CPT1C, CYP27A1, CYP2U1, CYP7B1, DARS2, DDHD1, DDHD2, DNM2, DSTYK, ENTPD1, ERLIN1, ERLIN2, FA2H, FARS2, FLRT1, GAD1, GBA2, GJC2, GLRX5, GPT2, GRID2, HACE1, HSPD1, IBA57, KDM5C, KIDINS220, KIF1A, KIF1C, KIF5A, KLC2, KLC4, KY, L1CAM, MAG, MARS1, MARS2, NIPA1, NKX6-2, NT5C2, OPA3, PCYT2, PGAP1, PLP1, PNPLA6, RAB3GAP2, REEP1, REEP2, RNASEH2B, RTN2, SACS, SERAC1, SELENOI, SLC16A2, SLC1A4, SLC25A46, SLC2A1, SLC33A1, SPART, SPAST, SPG11, SPG21, SPG7, TECPR2, TFG, TUBB4A, UBAP1, USP8, VPS37A, WASHC5, WDR48, ZFR, ZFYVE26, ZFYVE27.
ALDH18A1, ATAD3A, BICD2, BSCL2, DNM2, FAR1, KIF5A, KIDINS220, SPG7, TUBB4A.
ADAR, ATL1, CPT1C, KIF1A, ERLIN2,HSPD1, NIPA1, PMCA4, REEP1, REEP2, RTN2, SLC33A1, SPAST, SPG7, UBAP1, WASHC5, ZFYVE27.
ABHD16A, AFG3L2, ALDH18A1, ALDH3A2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, ARL6IP1, ATP13A2, B4GALNT1, BICD2, C19orf12, CAPN1, CCT5, CYP2U1, CYP27A1, CYP7B1, DARS2, DDHD2, DSTYK, ENTPD1, ERLIN1, ERLIN2, FA2H, FLRT1, GAD1, GBA2, GJC2, GPT2, GRID2, HACE1, IBA57, KIF1A, KIF1C, KLC2,KLC4, KY, MAG, MARS1, MTRFR, OPA3, NT5C2, PCYT2, PGAP1, PNPLA6, RAB3GAP2, SELENOI, SPART, SPG7, SPG11, SPG21, TECPR2, TFG, VPS37A, WDR48, ZFYVE26.
ALS2, ATL1, AP5Z1, CYP7B1, DDHD1, ERLIN2, REEP2, SPG7, SPG11, SPG24, USP8, ZFR.
L1CAM, PLP1, SLC16A2.
Exoma dirigido
Información
  • Análisis: SNVs, Indels y CNVs
  • Cobertura media: >100X
  • Plazo de entrega: 30 días laborables

Epilepsia

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.

Estudios incluidos
AARS1, ABAT, ACOX1, ACTL6B, ADAR, ADAM22, ADGRG1, ADGRV1, ADRA2B, AFG3L2, AKT1, AKT3, ALDH7A1, ALG13, AMT, AP2M1, AP3B2, ARFGEF2, ARHGEF9, ARV1, ARX, ASAH1, ATP1A2, ATP1A3, ATP13A2, ATP6V0A1, ATP6V1A, BCL11A, BRAT1, BRD7, BTD, C3ORF33, CACNA1A, CACNA1B, CACNA1H, CACNB4, CACNA1E, CACNA2D1, CAD, CASK, CASR, CCM2, CDKL5, CDK19, CELF2, CERS1, CHD2, CHRNA2, CHRNA4, CHRNB2, CILK1, CLCN2, CLN3, CLN5, CLN6, CLN8, CLTC, CNPY3, CNKSR2, CNTNAP2, COL4A1, COL4A2, CPA6, CPLX1, CSTB, CTNND2, CTSD, CYFIP2, DALRD3, DCX, DENND5A, DEPDC5, DHDDS, DMXL2, DNAJC5, DNM1, DOCK7, DYNC1H1, EFHC1, EEF1A2, EPM2A, FANCL, FBXO28, FGF12, FGF13, FKRP, FKTN, FLNA, FOLR1, FOXG1, FRRS1L, FZR1, GABBR2, GABRA1, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAD1, GAL, GBA, GCSH, GLI3, GLS, GNAQ, GNAO1, GOSR2, GOT2, GPHN, GRIK1, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, GUF1, HCN1, HCN4, HEATR3, HID1, HNRNPU, IFIH1, IQSEC2, ITPA, JRK, KCNA1, KCNA2, KCNAB1, KCNB1, KCNC1, KCNH5, KCNMA1, KCNN2, KCNQ2, KCNQ3, KCNT1, KCNT2, KCTD3, LARGE1, LGI1, LMNB2, MAPK10, MAST3, MECP2, MDH1, MDH2, MFSD8, MLC1, MTOR, NAPB, NECAP1, NUS1, NEUROD2, NEXMIF, NHLRC1, NPRL2, NPRL3, NSF, NTRK2, PAFAH1B1, PACS2, PARS2, PCDH19, PCDH7, PDCD10, PHACTR1, PIK3CA, PIK3R2, PIGA, PIGP, PIGQ, PLCB1, PNKP, PNPO, POMT1, POMT2, POLG, PPT1, PPP3CA, PRDM8, PRICKLE1, PRICKLE2, PRRT2, RAPGEF2, RELN, RHOBTB2, RNASEH2A, RNASEH2B, RNASEH2C, RNF13, RORB, SAMD12, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SEMA6B, SERPINI1, SIK1, STX1B, SLC1A2, SLC12A5, SLC13A5, SLC2A1, SLC25A12, SLC25A22, SLC33A1, SLC6A1, SLC7A6OS, SNX27, SPTAN1, STARD7, STAT4, ST3GAL3, STXBP1, SURF1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TCF4, TNRC6A, TPK1, TPP1, TRAK1, TREX1, TRIM8, TSC1, TSC2, TTC21B, TUBA1A, WDR45, WDR62, UBA5, WWOX, YEATS2, YWHAG, ZEB2.
AARS1, ACTL6B, ADAM22, ADAR, ADGRV1, ALG13, AMT, AP2M1, AP3B2, ARHGEF19, ARV1, ARX, ATP1A2, ATP1A3, ATP6V0A1, ATP6V1A, BRAT1, CACNA1A, CACNA1B, CACNA1H, CACNA1E, CACNA2D1, CACNB4, CASK, CAD, CDKL5, CDK19, CELF2, CHD2, CILK1, CLCN2, CLTC, CLPX1, CNPY3, CNKSR2, CPLX1, CUX2, CYFIP2, DALRD3, DENND5A, DEPDC5, DHDDS, DMXL2, DNM1, DOCK7, EFHC1, EEF1A2, FBXO28, FGF12, FGF13,FOXG1, FRRS1L, FZR1, GABBR2, GABRA1, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAD1, GCSH, GLDC, GLI3, GLS, GLUL, GNAQ, GNAO1, GOT2, GPHN, GRIN2A, GRIN2B, GRIN2D, GUF1, HCN1, HID1, HNRNPU, IFIH1, IQSEC2, ITPA, JRK, KCNA1, KCNA2, KCNB1, KCNH5, KCNQ2, KCNQ3, KCNT1, KCNT2, KCTD3, MAPK10, MAST3, MDH1, MDH2, MECP2, NAPB, NECAP1, NUS1, NEUROD2, NEXMIF, NSF, NTRK2, PACS2, PARS2, PCDH19, PHACTR1, PIGA, PIGP, PIGQ, PLCB1, PNKP, PNPO, PPP3CA, PRRT2, RHOBTB2, RNF13, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SIK1, SLC1A2, SLC12A5, SLC13A5, SLC2A1, SLC25A12, SLC25A22, SLC32A1, SLC35A2, SLC6A1, SPTAN1, ST3GAL3, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TRAK1, TREX1, TRIM8, TSC1, TSC2, WDR45, UBA5, WWOX, YWHAG.
AARS1, ACTL6B, ADAM22, ALG13, AP3B2, ARHGEF9, ARV1, ARX, ATP1A2, ATP1A3, ATP6V0A1, ATP6V1A, BRAT1, CACNA1A, CACNA1B, CACNA1E, CACNA1I, CACNA2D1, CAD, CASK, CDK19, CDKL5, CELF2, CHD2, CLTC, CNKSR2, CNPY3, CPLX1, CUX2, CYFIP2, DALRD3, DENND5A, DEPDC5, DHDDS, DMXL2, DNM1, DOCK7, EEF1A2, FBXO28, FGF12, FGF13, FRRS1L, FZR1, GABBR2, GABRA1, GABRG2, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GAD1, GLUL, GLS, GNAO1, GOT2, GPHN, GRIN1, GRIN2A, GRIN2B, GRIN2D, GUF1, HCN1, HID1, HNRNPU, IFIH1, IQSEC2, ITPA, KCNA1, KCNA2, KCNB1, KCNC2, KCNH5, KCNQ2, KCNT1, KCNT2, KCTD3, MAPK10, MAST3, MDH1, MDH2, NAPB, NECAP1, NEUROD2, NSF, NTRK2, NUS1, PACS2, PARS2, PDCH19, PHACTR1, PIGA, PIGB, PIGP, PIGQ, PIGS, PLAA, PLCB1, PLK1, PLXNA1, PNKP, PPP3CA, PTPN23, RHOBTB2, RNF13, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SIK1, SLC12A5, SLC13A5, SLC1A2, SLC25A12, SLC25A22, SLC32A1, SLC35A2, SLC38A3, SMC1A, SNF8, SPATAN1, ST3GAL3, STXBP1, SV2A, SYNGAP1, SYNJ1, SZT2, TBC1D24, TIMM50, TRAK1, TREX1, TRIM8, TSC1, TSC2, UBA5, UFSP2, UGDH, UGP2, WWOX, WDR45, YWHAG.
ADGRV1, CACNA1H, CASR, CACNB4, CLCN2, GABRA1, GABRD, GABRG2, HCN2, HCN4, KCNMA1, RORB, SCN1A, SCN2A, SCN9A, SCN1B, SLC12A5, SLC2A1, STX1B.
ADGRV1, FGF13, GABRD, GABRG2, HCN1, HCN2, SCN1A, SCN1B, SCN2A, SCN9A, SLC32A1, STX1B.
AKT3, BRAT1, CCM2, CHRNA2, CHRNA4, CHRNB2, CNTNAP2, COL4A1, COL4A2, CPA6, DEPDC5, DNM1L, DYNC1H1, GAL, GNAQ, GRIN1, GRIN2A, GRIN2B, KCNT1, KCNQ2, NPRL2, MLC1, MTOR, 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, MARCHF6, MFSD8, NHLRC1, POLG, PPT1, PRDM8, PRICKLE1, PRICKLE2, RAPGEF2, SAMD12, SCARB2, SEMA6B, SERPINI1, SLC2A1, SLC6A1, SLC7A6OS, SNX27, STARD7, SURF1, SYNGAP1, TBC1D24, TNRC6A, TPK1, TPP1, YEATS2.
CACNB4, CILK1, CLCN2, CPLX1, EFHC1, GABRA1, GABRD, JRK, KCNQ3, TBC1D24.
Exoma dirigido
Información
  • Análisis: SNVs, Indels y CNVs
  • Cobertura media: >100X
  • Plazo de entrega: 30 días laborables

Trastorno del espectro autista

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 423 genes con una asociación contrastada con el TEA.

Estudios incluidos
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.
Exoma dirigido
Información
  • Análisis: SNVs, Indels y CNVs
  • Cobertura media: >100X
  • Plazo de entrega: 30 días laborables

Discapacidad intelectual

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 588 genes asociados a discapacidad intelectual.

Estudios incluidos
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, 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, CPLANE1, 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, NEXMIF, 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,ELK1 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, RPL10, 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, ZNF674, ZNF711, ZNF81.
FMR1.
15q11.
15q11.
Exoma dirigido
Información
  • Análisis: SNVs, Indels y CNVs
  • Cobertura media: >100X
  • Plazo de entrega: 30 días laborables

Ataxia

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.

Estudios incluidos
AAAS, ABCB7, ABHD12, ADGRG1, AFG3L2, AHI1, ALDH5A1, AMPD2, ANGPTL3, ANO10, AP1S2, APOB, APTX, ARL13B, ARSA, ATCAY, ATM, ATP1A3, ATP8A2, CA8, CACNA1A, CACNA1G, CACNA2D2, CACNB4, CAMTA1, CASK, CC2D2A, CCDC88C, CEP290, CHMP1A, CHP1, CLCN2, CLN5, CLN6, CLP1, COA7, COG5, COQ2, COQ4, COQ5, COQ8A, COQ9, COX20, CP, CRPPA, CSTB, CWF19L1, CYP27A1, CYP2U1, DAGLA, DARS2, DDHD2, DLAT, DNAJC19, DNAJC5, DNMT1, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, EPM2A, EXOSC3, FAT2, FGF12, FGF14, FLVCR1, FOLR1, GALC, GBA2, GFAP, GJC2, GPAA1, GRID2, GRM1, GSS, HEXA, HEXB, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIF1C, L2HGDH, LARGE1, MARS2, MMACHC, MECP2, MRE11, MTPAP, MTTP, MVK, NEU1, NFASC, NHLRC1, NKX6-2, NPC1, NPC2, NOP56, OPA1, OPA3, OPHN1, PAX6, PCNA, PDYN, PEX16, PHYH, PIK3R5, PLA2G6, PLEKHG4, PNKP, PNPLA6, POLG, POLH, POLR3A, POLR3K, POMGNT2, PPP2R2B, PRICKLE1, PRKCG, PRNP, PRRT2, RARS2, RFC1, RNF170, RNF216, RPGRIP1L, RUBCN, SACS, SAR1B, SEPSECS, SETX, SCN2A, SCN8A, SIL1, SLC17A5, SLC1A3, SLC2A1, SLC52A2, SLC9A6, SMPD1, SNX14, SPG7, SPTBN2, SRD5A3, STUB1, SYNE1, SYT14, TBP, TDP1, TGM6, TMEM240, TMEM67, TPP1, TSEN2, TSEN54, TTBK2, TTPA, TUBB4A, TWNK, UCHL1, VAMP1, VLDLR, VPS13A, VPS13D, VRK1, VWA3B, WDR81, WFS1, WWOX, XRCC1, ZNF592.
ATP1A3, CACNA1A, CACNB4, KCNA1, PRRT2, SCN2A, SLC1A3, SLC2A1.
AFG3L2, ANO10, ATP2B3, CACNA1G, COA7, COQ8A, CWF19L1, EEF2, ELOVL4, ELOVL5, FAT2, FGF14, GDAP2, GRID2, GRM1, ITPR1, KCNC3, KCND3, PDYN, PMPCA, PNPLA6, PRDX3, PRKCG, PUM1, SCYL1, SETX, SNX14, SPTBN2, STUB1, SYNE1, TDP1, TGM6, TMEM240, TPP1, TTBK2, TWNK, UBA5, VPS13D, WWOX, XRCC12.
ADCK3, COQ5, SMPD1, SYNE1, NPC1, NPC2.
ATM, APTX, COA7, CYP27A1, SETX, PIK3R5, PNKP.
ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7.

FXN.

ATM.

FMR1.

Exoma dirigido
Información
  • Análisis: SNVs, Indels y CNVs
  • Cobertura media: >100X
  • Plazo de entrega: 30 días laborables