Neurología
¿Qué son los paneles de genes?
Diagnóstico integral
Los paneles de genes son, hoy en día, una valiosa herramienta de diagnóstico porque analizan simultáneamente todos los genes identificados hasta el momento asociados a una enfermedad.
Diseño basado en evidencia
Nuestros paneles fueron diseñados en función de revisiones bibliográficas, bases de datos (HGMD y ClinVar), literatura actualizada y la demanda de los profesionales médicos.
Tecnología avanzada
Todos los paneles incluyen la secuenciación completa de los exones por NGS y están validados para detectar las CNV.
Análisis experto
Un equipo de especialistas en bioinformática, que contempla la historia clínica de cada paciente y sus antecedentes familiares, realiza la revisión de los datos.
Alta cobertura
Los genes difíciles de secuenciar están cubiertos con alta calidad, lo que permite un verdadero impacto diagnóstico en casos de pacientes difíciles.
Estándares internacionales
El análisis bioinformático y el reporte de variantes se realizan siguiendo recomendaciones internacionales (ACMG); esto asegura la validez clínica del informe.
Nuestros paneles de NEUROLOGÍA
Cómo trabajamos
Secuenciación completa de exones (NGS)
Análisis bioinformático personalizado
Revisión por especialistas según ACMG
Informe clínico validado
Un recurso esencial para el diagnóstico neurológico moderno
Las pruebas de paneles en el campo de la neurología son cada vez más beneficiosas y su uso se está incrementando en todo el mundo. Aumentan notablemente la tasa de éxito del diagnóstico en casos complejos y reducen considerablemente el tiempo que se demora en realizar un diagnóstico definitivo, lo que evita, muchas veces, la odisea diagnóstica. El diagnóstico temprano acelera la aplicación del tratamiento adecuado y mejora la calidad de vida de todos los pacientes, especialmente de los casos pediátricos difíciles. El diagnóstico genético del paciente permite, además, que el grupo familiar del paciente tenga rápidamente acceso al consejo genético correspondiente.
- Diagnóstico más rápido
- Mayor tasa de éxito
- Menos odisea diagnóstica
- Impacto directo en la calidad de vida
- Facilita el consejo genético
Diagnóstico temprano = mejor pronóstico
El diagnóstico temprano acelera la aplicación del tratamiento adecuado y mejora la calidad de vida de todos los pacientes, especialmente de los casos pediátricos difíciles.
¿Por qué se recomiendan los paneles en neurología?
Porque aumentan la precisión diagnóstica en situaciones complejas.
¿Son útiles en pacientes pediátricos?
Especialmente: permiten detectar condiciones genéticas en etapas tempranas.
¿Qué beneficios tiene para la familia?
Acceso rápido al consejo genético y planificación médica futura.
Panel de Epilepsia – 468 genes
AARS, ABAT, ABCA2, ABCD1, ACTL6B, ACY1, ADAM22, ADAR, ADNP, ADPRHL2, ADSL, AFG3L2, AGA, AIFM1, AIMP1, ALDH3A2, ALDH5A1, ALDH7A1, ALG13, ALG6, ALKBH8, AMACR, AMT, ANKRD11, AP2M1, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, ARG1, ARHGEF9, ARID1B, ARSA, ARV1, ARX, ASAH1, ASNS, ASPA, ASXL3, ATAD1, ATP13A2, ATP1A1, ATP1A2, ATP1A3, ATP6V1A, ATRX, BCKDK, BRAT1, BTD, C12orf57, CACNA1A, CACNA1B, CACNA1D, CACNA1E, CACNA1G, CACNA1H, CACNA2D2, CACNB4, CAD, CAMK2B, CARS2, CASK, CASR, CC2D1A, CDK9, CDKL5, CERS1, CHD2, CHRNA2, CHRNA4, CHRNB2, CLCN2, CLCN4, CLN3, CLN5, CLN6, CLN8, CLTC, CNKSR2, CNPY3, CNTNAP2, COA7, COA8, COL4A1, COL4A2, COL4A3BP, COQ2, COQ4, COX15, COX6B1, CPLX1, CPT2, CSF1R, CSNK2B, CSTB, CTC1, CTSD, CTSF, CUL4B, CUX2, CYFIP2, CYP27A1, D2HGDH, DARS, DARS2, DCX, DDC, DDX3X, DEAF1, DEGS1, DENND5A, DEPDC5, DHDDS, DHFR, DHPS, DIAPH1, DMXL2, DNAJC5, DNM1, DNM1L, DOCK7, DOLK, DPAGT1, DPM1, DPM2, DPYD, DPYS, DYNC1H1, DYRK1A, EARS2, ECHS1, ECM1, EEF1A2, EFHC1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF3F, EML1, EPM2A, EPRS, ETFA, ETFB, ETFDH, ETHE1, FA2H, FAM126A, FAR1, FARS2, FDFT1, FDX2, FGF12, FH, FKTN, FLNA, FOLR1, FOXG1, FOXRED1, FRRS1L, FUT8, GABBR2, GABRA1, GABRB1, GABRB2, GABRB3, GABRG2, GALC, GAMT, GCDH, GCH1, GCSH, GFAP, GFM1, GFM2, GJC2, GLB1, GLDC, GLRB, GLS, GLUD1, GNAO1, GNB1, GNE, GOLGA2, GOSR2, GPAA1, GPHN, GRIA3, GRIA4, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, GTPBP3, GUF1, HACE1, HCN1, HCN2, HECW2, HEPACAM, HIBCH, HNRNPU, HSD17B10, HSPD1, HTRA1, HTT, IBA57, ICK, IER3IP1, IFIH1, IQSEC2, IRF2BPL, ITPA, KCNA1, KCNA2, KCNB1, KCNC1, KCNH1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD3, KCTD7, KDM5C, KIF1A, KIF5A, KIF5C, KMT2E, L2HGDH, LGI1, LIAS, LMNB1, LMNB2, LNPK, LRPPRC, LYRM7, MACF1, MAGI2, MARS2, MBD5, MBOAT7, MDH2, MECP2, MED12, MED17, MEF2C, MFSD8, MIPEP, MLC1, MOCS1, MOCS2, MRPL44, MTFMT, MTHFR, MTOR, NACC1, NBEA, NDST1, NDUFAF3, NDUFAF5, NDUFAF6, NDUFS2, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NECAP1, NEU1, NEUROD2, NEXMIF, NFU1, NHLRC1, NKX6-2, NOTCH3, NPRL2, NPRL3, NR2F1, NRXN1, NSDHL, NT5C2, NTRK2, NUBPL, NUS1, OFD1, OPHN1, P4HTM, PACS1, PACS2, PAFAH1B1, PARS2, PCDH19, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PGK1, PHACTR1, PHF6, PIGA, PIGB, PIGC, PIGG, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGV, PIGW, PITRM1, PLAA, PLCB1, PLP1, PLPBP, PNKP, PNPO, POLG, POLR3A, POLR3B, PPP2CA, PPP3CA, PPT1, PRICKLE1, PRICKLE2, PRIMA1, PRRT2, PRUNE1, PSAP, PSAT1, PTPN23, PTS, PUM1, PURA, PYCR2, QARS, QDPR, RAB11A, RAB11B, RAB39B, RALA, RARS, RELN, RHOBTB2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF13, RNF216, ROGDI, RORA, RORB, RUSC2, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SCO1, SDHAF1, SERAC1, SERPINI1, SETBP1, SETD1B, SGSH, SLC12A5, SLC13A5, SLC19A3, SLC1A2, SLC1A4, SLC25A1, SLC25A15, SLC25A22, SLC25A42, SLC2A1, SLC35A1, SLC35A2, SLC39A8, SLC46A1, SLC6A1, SLC6A5, SLC6A8, SLC9A6, SMARCA2, SMC1A, SMS, SNAP25, SOX10, SPATA5, SPTAN1, SPTBN4, SSR4, ST3GAL3, ST3GAL5, STRADA, STX1B, STXBP1, SUMF1, SUOX, SYN1, SYNGAP1, SYNJ1, SZT2, TAF1, TANGO2, TBC1D20, TBC1D24, TBCD, TBCE, TBCK, TBL1XR1, TCF4, TK2, TPK1, TPP1, TRAK1, TREX1, TRIM8, TRIT1, TSC1, TSC2, TSFM, TTC19, TUBA1A, TUBB4A, UBA5, UBE2A, UBE3A, UBTF, UNC80, VAMP2, VARS, VPS13A, WARS2, WASF1, WDR26, WDR45, WWOX, YWHAG, YY1, ZDHHC9, ZEB2, ZFYVE26, ZNHIT3, ZSWIM6
Cerrar Panel Alzheimer, ELA y Demencia – 42 genes
ALS2, ANG, ANXA11, APP, ATP13A2, CHCHD10, CHMP2B, DCTN1, DDHD1, ERBB4, ERLIN1, FIG4, FUS, GRN, HEXA, HNRNPA2B1, ITM2B, KIF5A, LRRK2, MAPT, MATR3, NEFH, OPTN, PFN1, PRNP, PSEN1, PSEN2, SETX, SIGMAR1, SNCA, SOD1, SORL1, SPG11, SQSTM1, TARDBP, TBK1, TFG, TIA1, TREM2, UBQLN2, VAPB, VCP
Cerrar Panel Rasopatias y Sme De Noonan – 39 genes
A2ML1, ACTB, ACTG1, BMP2, BRAF, CBL, CCNK, CDC42, EPHB4, FGD1, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, MAP3K8, MRAS, NF1, NF2, NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, RRAS2, SASH1, SHOC2, SMARCB1, SOS1, SOS2, SPRED1, STAMBP, SYNGAP1, YWHAZ
Cerrar Panel de Parkinson – 48 genes
ATP13A2, ATP1A3, ATP7B, C19ORF12, CHCHD10, CHCHD2, CP, CSF1R, DCTN1, DNAJC12, DNAJC5, DNAJC6, FBXO7, FTL, GBA, GCH1, GRN, LRRK2, MAPT, NUS1, PANK2, PARK7, PDE10A, PDE8B, PDGFB, PDGFRB, PINK1, PLA2G6, PODXL, POLG, PRKN, PRKRA, PSEN1, RAB39B, SLC20A2, SLC30A10, SLC39A14, SLC6A3, SNCA, SPR, SYNJ1, TH, TMEM230, UCHL1, VPS13A, VPS13C, VPS35, XPR1
Cerrar Panel de Distrofia Macular – 28 genes
ABCA4, BEST1, C1QTNF5, CDH3, CERKL, CNGB3, CRB1, CRX, CTNNA1, DRAM2, EFEMP1, ELOVL4, IMPG1, IMPG2, KCNV2, MFSD8, NMNAT1, PRDM13, PROM1, PRPH2, RAX2, RDH12, RDH5, RLBP1, RP1L1, RPGR, RS1, TIMP3
Cerrar Panel Leucodistrofia y Leucoencefalopatia – 81 genes
ABCD1, ADAR, AIFM1, AIMP1, ALDH3A2, AP4B1, AP4E1, AP4M1, AP4S1, APOPT1, ARSA, ASPA, CLCN2, COA7, COL4A1, COX15, COX6B1, CSF1R, CTC1, CYP27A1, D2HGDH, DARS, DARS2, DEGS1, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EPRS, FA2H, FAM126A, FDX1L, FOLR1, FOXRED1, GALC, GFAP, GFM1, GJC2, HEPACAM, HIBCH, HSPD1, HTRA1, IBA57, L2HGDH, LMNB1, LYRM7, MARS2, MLC1, MRPL44, MTFMT, NDUFAF5, NFU1, NKX6-2, NOTCH3, NT5C2, NUBPL, PLP1, POLR3A, POLR3B, PSAP, PYCR2, RARS, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF216, SAMHD1, SCO1, SDHAF1, SERAC1, SLC1A4, SNORD118, SOX10, SUMF1, TREX1, TTC19, TUBB4A, ZFYVE26
Cerrar Panel de Epilepsia Metabólica – 47 genes
ABAT, ADSL, AGA, ALDH5A1, ALDH7A1, AMT, ARG1, BTD, D2HGDH, DHFR, DNM1L, DPYD, DPYS, ETFA, ETFB, ETFDH, ETHE1, FH, GAMT, GCDH, GCH1, GLDC, GNE, GPHN, HIBCH, L2HGDH, MIPEP, MOCS1, MTHFR, NDUFAF3, NDUFS6, PGK1, PNPO, POLG, PRODH, PTS, QDPR, SERAC1, SLC25A1, SLC25A15, SLC25A42, SLC2A1, SLC39A8, SLC46A1, SUOX, TPK1, WARS2
Cerrar Panel de Neuropatía de Charcot-Marie-Tooth – 116 genes
AARS, AGTPBP1, AIFM1, AMACR, ARHGEF10, ATAD3A, ATL1, ATL3, ATP1A1, ATP7A, BAG3, BICD2, BSCL2, C12ORF65, CCT5, CHCHD10, COA7, COX10, COX6A1, CTDP1, CYP27A1, DCAF8, DCTN1, DHTKD1, DNAJB2, DNM2, DNMT1, DST, DYNC1H1, EGR2, FAM134B, FBLN5, FBXO38, FGD4, FIG4, FXN, GAN, GARS, GDAP1, GJB1, GNB4, GNE, GSN, HADHB, HARS, HINT1, HK1, HSPB1, HSPB8, IGHMBP2, IKBKAP, INF2, KARS, KIF1A, KIF1B, KIF5A, LDB3, LITAF, LMNA, LRSAM1, MARS, MCM3AP, MED25, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, MYOT, NDRG1, NEFH, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP2, PMP22, PNKP, POLG, POLG2, PRDM12, PRPS1, PRX, RAB7A, REEP1, SACS, SBF1, SBF2, SCN11A, SCN9A, SCYL1, SEPT9, SETX, SH3TC2, SLC12A6, SLC25A46, SLC52A2, SLC52A3, SMAD3, SPG11, SPTBN4, SPTLC1, SPTLC2, SURF1, TFG, TRIM2, TRPV4, TTR, TYMP, UBA1, VCP, WNK1, YARS, ZFYVE26
Cerrar Panel de Miopatías Metabólicas y Rabdomiólisis – 90 genes
ACAD9, ACADL, ACADM, ACADVL, ADCK3, AGL, AHCY, ALDOA, AMPD1, ANO5, ATP2A1, B3GALNT2, B4GAT1, C10ORF2, CAPN3, CASQ1, CAV3, CHKB, COQ2, CPT2, CTDP1, DAG1, DGUOK, DMD, DNAJB6, DPM1, DPM2, DYSF, EMD, ENO3, ETFA, ETFB, ETFDH, FDX1L, FHL1, FKRP, FKTN, FLAD1, GAA, GBE1, GMPPB, GYG1, GYS1, HADHA, HADHB, ISCU, LAMA2, LAMP2, LARGE, LDHA, LPIN1, MT-ATP6, MYH3, OPA1, OPA3, PDSS2, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PNPLA2, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PYGM, RBCK1, RRM2B, RYR1, SCN4A, SGCA, SGCB, SGCD, SGCG, SIL1, SLC22A5, SLC25A20, STAC3, SUCLA2, SUCLG1, TANGO2, TCAP, TK2, TNPO3, TRIM32, TYMP
Cerrar Panel Trastornos Migración Neuronal – 59 genes
ACTB, ACTG1, ADGRG1, AKT3, ARFGEF2, ARX, ATP6V0A2, B3GALNT2, COL4A1, COL4A2, DCX, DYNC1H1, EMX2, FAT4, FH, FKTN, FLNA, FLVCR2, GMPPB, GPSM2, ISPD, KATNB1, KIF1BP, KIF7, L1CAM, LAMA2, LAMB1, LAMC3, LARGE, MACF1, MED12, MEF2C, MPDZ, NDE1, NSDHL, OCLN, PAFAH1B1, PHGDH, PIK3CA, PIK3R2, POMGNT2, POMT1, RAB18, RAB3GAP1, RAB3GAP2, RELN, RTTN, SEPSECS, SRPX2, TMEM5, TUBA1A, TUBA8, TUBB2A, TUBB2B, TUBB3, TUBG1, VLDLR, WDR62, YWHAE
Cerrar Panel de Esclerosis Lateral Amiotrófica – 44 genes
ALS2, ANG, ATL1, BSCL2, CHCHD10, CHMP2B, DCTN1, FIG4, FUS, GBE1, GRN, HEXA, HNRNPA1, HSPD1, KIAA0196, KIF5A, MATR3, OPTN, PFN1, PRF1, REEP1, SETX, SLC52A2, SLC52A3, SOD1, SPAST, SPG11, SPG20, SQSTM1, TARDBP, TIA1, TUBA4A, UBQLN2, VAPB, VCP, ANXA11, ATP13A2, DDHD1, ERBB4, ERLIN1, NEFH, SIGMAR1, TBK1, TFG
Cerrar Panel Neuropatía Sensorial y Autonómica Hereditaria – 16 genes
ATL1, ATL3, CCT5, DNMT1, DST, ELP1, KIF1A, NGF, NTRK1, PRDM12, RETREG1, SCN11A, SCN9A, SPTLC1, SPTLC2, WNK1
Cerrar Panel Trastornos del Espectro Autista con ADN mitocondrial -74 genes
ADNP, BCL11A, C12ORF4, CACNA1C, CC2D1A, CNOT3, CNTN6, COL4A3BP, CSNK2A1, CTNND2, DHCR7, EHMT1, EN2, FBXO11, FOXP1, GAMT, KMT2E, KMT5B, MBOAT7, MECP2, NBEA, NFIB, NLGN3, NLGN4X, NSD1, POGZ, PTCHD1, PTEN, RPL10, TBR1, TCF20, TRIP12, TSC1, TSC2, VAMP2, WASF1, ZSWIM6, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY
Cerrar Panel Paraparesia Espástica – 101 genes
ABCD1, ADGRB2, AFG3L2, ALDH18A1, ALS2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARG1, ARL6IP1, ARSI, ATAD3A, ATL1, ATP13A2, ATP2B4, B4GALNT1, BSCL2, BTD, C12orf65, C19orf12, CACNA1G, CAPN1, CCT5, COASY, CPT1C, CTNNB1, CYP27A1, CYP2U1, CYP7B1, DARS, DDHD1, DDHD2, DSTYK, ENTPD1, ERLIN1, ERLIN2, EXOSC3, FA2H, FARS2, FXN, GALC, GBA2, GBE1, GCH1, GJC2, GPT2, HACE1, HEXA, HSPD1, IBA57, IRF2BPL, KCNA2, KDM5C, KIDINS220, KIF1A, KIF1C, KIF5A, KLC2, L1CAM, L2HGDH, MAG, MARS2, NIPA1, NKX6-2, NT5C2, PAH, PGAP1, PLP1, PNPLA6, RAB3GAP2, RARS, REEP1, REEP2, RTN2, SACS, SETX, SLC1A4, SLC16A2, SLC25A15, SLC33A1, SPART, SPAST, SPR, SPG11, SPG21, SPG7, TECPR2, TFG, TH, UBAP1, UCHL1, USP8, VAMP1, VPS37A, WASHC5, ZFR, ZFYVE26, ZFYVE27
Cerrar Panel Distonía – 52 genes
ACTB, ADCY5, ANO3, ATP1A3, ATP7B, BCAP31, CACNA1B, CACNA1G, CIZ1, COL6A3, CYP27A1, DCAF17, DNAJC12, DRD2, FA2H, FITM2, GCH1, GNAL, GNAO1, HEXA, HPCA, KCNMA1, KCTD17, KMT2B, MECR, MED20, MIPEP, PANK2, PDE10A, PDGFB, PDGFRB, PLA2G6, PNKD, PRKN, PRKRA, PRRT2, SGCE, SLC2A1, SLC30A10, SLC39A14, SLC6A3, SPR, TH, THAP1, TOR1A, TOR1AIP1, TUBB4A, UBTF, VAC14, VPS13A, VPS13D, XPR1
Cerrar Panel Distrofia Muscular de Emery-Dreifuss – 6 genes
DMD, EMD, FHL1, LMNA, TMEM43, TTN
Cerrar Panel de Neuropatías -109 genes
AARS, AIFM1, APOA1, ARHGEF10, ASAH1, ATL1, ATL3, ATP1A1, ATP7A, BAG3, BICD2, BSCL2, CCT5, CHCHD10, COX6A1, CYP27A1, CYP7B1, DCTN1, DHTKD1, DNAJB2, DNM2, DNMT1, DRP2, DST, DYNC1H1, EGR2, ELP1, EXOSC9, FBLN5, FBXO38, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GLA, GNB4, GSN, HARS, HEXA, HINT1, HMBS, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, KIF1A, KIF5A, LAS1L, LITAF, LMNA, LRSAM1, MARS, MCM3AP, MED25, MFN2, MICAL1, MME, MORC2, MPZ, MTMR2, NDRG1, NEFH, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP2, PMP22, POLG, POLG2, PRDM12, PRPS1, PRX, RAB7A, REEP1, RETREG1, SBF1, SBF2, SCN10A, SCN11A, SCN9A, SEPT9, SGPL1, SH3TC2, SIGMAR1, SLC12A6, SLC25A21, SLC25A46, SLC52A1, SLC52A2, SLC52A3, SLC5A7, SPG11, SPTLC1, SPTLC2, SURF1, TFG, TRIM2, TRPV4, TTR, UBA1, VAPB, VRK1, WNK1, YARS
Cerrar Panel Distrofia Muscular / Miopatías – 129 genes
ACAD9, ACADVL, ACTA1, ANO5, ATP2A1, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, CAPN3, CASQ1, CAV3, CFL2, CHKB, CNTN1, COL12A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COQ2, COQ8A, CRPPA, CRYAB, DAG1, DES, DGUOK, DMD, DNAJB6, DPM1, DPM2, DPM3, DYSF, EMD, FDX2, FHL1, FKRP, FKTN, FLAD1, FLNC, GAA, GBE1, GMPPB, GOLGA2, GOSR2, GYG1, HNRNPDL, INPP5K, ISCU, ITGA7, KBTBD13, KLHL40, KLHL41, LAMA2, LAMP2, LARGE1, LDB3, LIMS2, LMNA, LMOD3, MAP3K20, MEGF10, MICU1, MME, MSTN, MTM1, MYH7, MYO18B, MYOT, NEB, PABPN1, PGK1, PHKA1, PHKB, PLEC, PNPLA2, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PYGM, PYROXD1, RBCK1, RRM2B, RXYLT1, RYR1, SCN4A, SELENON, SEPTIN9, SGCA, SGCB, SGCD, SGCG, SIL1, SLC22A5, SLC25A20, SMCHD1, SPEG, SPTBN4, STAC3, SUCLA2, SUCLG1, SUN1, SUN2, SYNE1, SYNE2, TANGO2, TCAP, TIA1, TK2, TMEM126B, TMEM43, TNNT1, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TSFM, TTN, TYMP, VMA21, VPS13A
Cerrar Panel Síndrome Miastenico Congénito – 25 genes
AGRN, ALG14, ALG2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LAMB2, LRP4, MUSK, PREPL, RAPSN, SCN4A, SLC18A3, SLC5A7, SNAP25, SYT2, VAMP1
Cerrar Panel de Encefalopatía Epiléptica – 165 genes
ABAT, ACTL6B, ADAM22, ADAR, ADPRHL2, ADSL, ALDH7A1, ALG13, AMT, AP2M1, AP3B2, APOPT1, ARHGEF9, ARX, ASNS, ATP6V1A, BRAT1, CACNA1A, CACNA1B, CACNA1E, CASK, CDKL5, CHD2, CLCN4, CLTC, CNKSR2, CNPY3, CNTNAP2, COX6B1, CPT2, CYFIP2, D2HGDH, DCX, DENND5A, DNM1, DNM1L, DOCK7, ECHS1, EEF1A2, ETHE1, FAR1, FARS2, FGF12, FLNA, FOXG1, FRRS1L, GABBR2, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GLDC, GNAO1, GPHN, GRIN1, GRIN2A, GRIN2B, GTPBP3, HCN1, HECW2, HEPACAM, HIBCH, HNRNPU, HTT, KCNA2, KCNB1, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD3, KIF1A, LRPPRC, LYRM7, MBD5, MDH2, MECP2, MED17, MEF2C, MOCS1, MRPL44, MTFMT, MTHFR, NACC1, NDUFAF6, NDUFS2, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NECAP1, NEUROD2, NRXN1, NUBPL, PARS2, PCDH19, PHACTR1, PIGA, PIGB, PIGP, PIGQ, PIGS, PLAA, PLCB1, PNKP, PNPO, POLG, PPP3CA, PROSC, PTPN23, PURA, RMND1, RNASEH2A, RNASEH2B, ROGDI, SAMHD1, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCO1, SDHAF1, SERAC1, SLC12A5, SLC13A5, SLC19A3, SLC25A1, SLC25A22, SLC2A1, SLC35A2, SLC6A8, SLC9A6, SNAP25, SPTAN1, ST3GAL3, ST3GAL5, STXBP1, SYN1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TBCD, TBCE, TBCK, TCF4, TRAK1, TREX1, TRIM8, TSC1, TSC2, TTC19, UBA5, UBE3A, UNC80, VARS, WARS2, WDR45, WWOX, ZEB2
Cerrar Panel Síndrome de Cornelia de Lange – 31 genes
ADNP, AFF4, ANKRD11, ARID1A, ARID1B, BRD4, CREBBP, DPF2, EP300, ESCO2, HDAC8, KMT2A, MED13L, NIPBL, PHF6, PHIP, RAD21, SETD5, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SOX11, SRCAP, STAG1, STAG2, TAF1, TAF6, ZMYND11
Cerrar Panel de Lisencefalia – 22 genes
ACTB, ACTG1, ARX, ATP6V0A2, CIT, CRADD, DCX, FKTN, KATNB1, KIAA1109, LAMB1, LARGE1, MACF1, PAFAH1B1, POMGNT2, POMT1, RELN, TMTC3, TUBA1A, TUBG1, VLDLR, YWHAE
Cerrar Panel de Enf. Cerebral Vasos Pequeños – 9 genes
APP, COL4A1, COL4A2, CST3, FOXC1, GLA, HTRA1, NOTCH3, TREX1
Cerrar Panel de Microcefalia e Hipoplasia Pontocerebelosa -78 genes
AKT3, AMPD2, ASPM, ASXL1, ASXL3, ATR, CASK, CCDC47, CDK5RAP2, CENPF, CENPJ, CEP152, CEP63, CSNK2A1, DONSON, DYNC1H1, DYRK1A, EFTUD2, EXOSC3, GFM1, GPT2, KANSL1, KATNB1, KIF11, LIG4, MBD5, MCPH1, MED17, MFSD2A, MIPEP, MRE11A, MYCN, MYO18B, NCAPD3, NDE1, NHEJ1, OPHN1, PAFAH1B1, PCDH12, PCLO, PCNT, PHGDH, PLK4, PNKP, POMT1, PQBP1, QARS, RARS2, RTTN, SEPSECS, SLC1A4, SMARCA2, SMARCE1, SOX11, STAG2, STAMBP, STIL, TBC1D20, TBC1D23, THOC6, TMTC3, TOE1, TOP3A, TRMT10A, TSEN2, TSEN54, TUBB, TUBB2B, TUBGCP4, TUBGCP6, UBE3B, VARS, VRK1, WDR62, WDR73, XRCC4, ZNF148, ZNF335
Cerrar 