- Pediatría
Alrededor del 1% de los bebés nacen con algún tipo de alteración genética y se estima que el 25% de los ingresos pediátricos se deben a enfermedades genéticas. El estudio genético es la forma más eficiente de obtener un diagnóstico diferencial entre las enfermedades pediátricas, lo que resulta fundamental para seleccionar el tratamiento más idóneo en cada paciente y poder iniciarlo de manera temprana.
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
Los errores innatos del metabolismo son un grupo de enfermedades raras causadas por defectos genéticos que alteran el metabolismo celular. Un número creciente de estos síndromes son tratables si se diagnostican temprano. Proponemos el estudio de 76 genes asociados a las enfermedades incluidas en el programa de cribado neonatal según las recomendaciones de la AEP, AAP y la ACMG.
ABCD1, ABCD4, ACAD8, ACADM, ACADS, ACADSB ACADVL, ACAT1, ACOX1, ADA, AHCY, ARG1, ASL, ASS1, AUH, BCKDHA, BCKDHB, BTD, CBS, CFTR, CPT1A, CPT2, CYP21A2, DBT, ETFA, ETFB, ETFDH, FAH, G6PC1, GAA, GALC, GALE, GALK1, GALT, GCH1, GCDH, GLA, GLDC, GNMT, GYS2, HADHA, HADHB, HBB, HCFC1, HLCS, HMGCL, HPD HSD17B10, IDUA, IVD, MAT1A, LMBRD1, MCCC1, MCCC2, MCEE, MMAA, MMAB, MMACHC, MMADHC, MMUT, MLYCD, MTHFR, MTRR, NAGS, OTC, PAH, PCBD1, PCCA, PCCB, PTS, QDPR, SLC2A1, SLC22A5, SLC25A13, SLC25A20, TAT
ABCA1, ABCB4, ABCD1, ABCD4, ABCG5, ABCG8, ACAD8, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACOX1, ACSF3, ADA, AGA, AGL, AGPS, AGXT, AHCY, ALAD, ALAS2, ALDH3A2, ALDH4A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALPL, APOA1, APOA2, APOA5, APOB, APOC2, APOC3, APOE, ARG1, ARSA, ARSB, ASAH1, ASL, ASS1, ATP7A, ATP7B, AUH, BCKDHA, BCKDHB, BTD, CBS, CD320, CETP, CFTR, CLN3, CLN5, CLN6, CLN8, CPOX, CPS1, CPT1A, CPT2, CTNS, CTSA, CTSD, CTSK, CYP11B1, CYP17A1, CYP19A1, CYP21A2, DBT, DDC, DDOST, DHCR7,DMP1, DOLK, DPAGT1, DPM3, DPYD, ENO3, ENPP1, EPHX2, ETFA, ETFB, ETFDH, ETHE1, FAH, FBP1, FECH, FGF23,FLAD1, FUCA1, G6PC1, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATM, GBA, GBE1, GCH1, GCDH, GHR, GK, GLA, GLB1, GLDC, GM2A, GNMT, GNPAT, GNPTAB, GNPTG, GNS, GRHPR, GUSB, GYG1, GYS1, GYS2, HADHA, HADHB, HBB, HCFC1, HEXA, HEXB, HFE, HJV, HGD, HGSNAT, HLCS, HMBS, HMGCL, HOGA1, HPD, HPRT1, HSD17B10,HSD3B2, HYAL1, IDS, IDUA, IVD, KHK, LAMP2, LCAT, LDHA, LDLR, LDLRAP1, LIPA, LIPC, LIPI, LMBRD1, LPA, LPL, MAGT1, MGAT2, MAT1A, MAN2B1, MANBA, MCCC1, MCCC2, MCEE, MCOLN1, MFSD8, MMAA, MMAB, MMACHC, MMADHC, MMUT, MLYCD, MPI, MTHFR, MTRR, NAGA, NAGLU, NAGS, NEU1, NGLY1, NPC1, NPC2, OTC, PAH, PCBD1, PCCA, PCCB, PCSK9, PDHB, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PKLR, PNPO, PMM2, POR, PPOX, PPT1, PRKAG2, PSAP, PTS, PYGL, PYGM, QDPR, RBCK1, RFKM, SGSH, SI, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC25A32, SLC25A36, SLC2A1, SLC2A2, SLC37A4, SLC3A1, SLC40A1, SLC6A19, SLC6A8, SLC7A7, SLC7A9, SLCO1B1, SLCO1B3, SMPD1, SRD5A3, SUMF1, TAT, TFR2, TPP1, TUSC3, UGT1A1, UMPS, UROD, UROS
CARACTERÍSTICAS
- Tiempo de respuesta: 35-45 días
DESCRIPCIÓN
Las cardiopatías congénitas son un grupo de enfermedades caracterizado por la presencia de alteraciones estructurales del corazón producidas por defectos en la formación del mismo durante el período embrionario. La gran mayoría de cardiopatías congénitas tienen una etiología multifactorial, si bien se estima que en el 8-10% de los casos son debidas a una anomalía cromosómica, y un 3-5% se asocian a un síndrome monogénico. Incluimos el estudio de 130 genes asociados a cardiopatías congénitas sindrómicas y no sindrómicas.
A2ML1, ABCC9, ACTA1, ACTC1, ACVR2B, ACVRL1, ANK2, ANKRD1, BMPR2, BRAF, CBL, CFC1, CFL2, CITED2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, CREBBP, CRELD1, CHD7, DTNA, EFEMP2, EHMT1, ELN, ENG, EP300, EVC, EYA4, FBN1, FBN2, FLNA, FLT4, GAA, GATA4, GATA5, GATA6, GDF1, GJA1, GJA5, HACD1, HAND2, HRAS, ITGA7, JAG1, KANSL1, KCNA5, KCNE1, KCNE2, KCNJ2, KCNQ1, KCNJ8, KCNK3, KDM6A, KLHL40, KLHL41, KMT2D, KRAS, LDB3, LEFTY2, LMNA, LOX, LZTR1 ,MAP2K1, MAP2K2, MAP3K20, MCTP2, MED12, MED13L, MFAP5, MIB1, MIB2, MRAS, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYLK, NEB, NEXN, NF1, NKX2-5, NKX2-6, NOTCH1, NRAS, PKP2, PLEKHM2, PRDM16, PTPN11, RAF1, RASA1, RIT1, RRAS, RRAS2, SCN5A, SELENON, SHOC2, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, SMAD6, SMAD9, SOS1, SOS2, SPRED1, TAB2, TBX1, TBX20, TBX4, TBX5, TGFB2, TGFB3, TGFBR1, TGFBR2, TNNC1, TNNI3, TNNI3K, TNNT1, TNNT2, TPM1, TPM2, TPM3, TTN, UPF3B, ZFPM2, ZIC3.
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
El término dismorfología hace referencia a una parte de la genética médica que se encarga del estudio de las malformaciones humanas o defectos congénitos, que pueden tener un origen genético o ambiental acompañados o no de retraso en el desarrollo intelectual o psicomotor.
Malformaciones óseas
ALPL, ANO5, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, DSPP, FAM46A, FGFR3, FKBP10, GORAB, IFITM5, KDELR2, LRP5, MBTPS2, MESD, NOTCH2, P3H1, P4HB, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SLC26A2, SOX9, SP7, SPARC, TENT5A, TMEM38B, WNT1.
ABCC9, ACAN, ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGA, AGPS, AIFM1, ALPL, ALG9, ALPL, ALX1, ALX3, ALX4, AMER1, ANKH, ANKRD11, ANO5, ANTXR2, ARHGAP31, ARSB, ARSE, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, CA2, CANT1, CASR, CC2D2A, CCDC8, CCN6, CDC45, CDH3, CDKN1C, CDT1, CEP120, CEP290, CFAP410, CHST14, CHST3, CHSY1, CLCN5, CLCN7, COG1, COG4, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREB3L1, CREBBP, CRTAP, CSPP1, CSTA, CTSK, CUL7, CYP27B1, DDR2, DHCR24, DHCR7, DHODH, DLL3, DLL4, DLX3, DLX5, DMP1, DOCK6, DVL1, DVL3, DYM, DYNC2H1, EBP, EED, EFTUD2, EIF2AK3, ENAM, ENPP1, EOGT, ERF, ESCO2, EVC, EVC2, EXT1, EXT2, EXTL3, EZH2, FAM111A, FAM20A, FAM20C, FAM83H, FBLN1, FBN1, FBN2, FERMT3, FGD1, FGF10, FGF16, FGF23, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FLNA, FLNB, FN1, FUCA1, FZD2, GALNS, GALNT3, GDF3, GDF5, GDF6, GHR, GJA1, GLB1, GLI3, GNAS, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC6, GPX4, GSC, GUSB, GZF1, HDAC8, HES7, HESX1, HGSNAT, HOXA13, HOXD13, HPGD, HS2ST1, HSPG2, ICK, IDH1, IDS, IDUA, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IFT81, IHH, IKBKG, IL1RN, IMPAD1, INPPL1, KAT6B, KIAA0753, KIF22, KIF7, KMT2A, KMT2D, LARP7, LBR, LEMD3, LEPRE1, LFNG, LHX4, LIFR, LMBR1, LMNA, LMX1B, LONP1, LPIN2, LRP4, LRP5, LRRK1, LTBP1, LTBP3, MAFB, MAN2B1, MAP2K1, MAP2K2, MAP3K7, MASP1, MATN3, MBTPS1, MBTPS2, MEGF8, MEOX1, MESP2, MGP, MKS1, MMP13, MMP2, MMP9, MNX1, , MSX2, MTX2, MTAP, MYCN, NAGLU, NANS, NEK1, NEU1, NF1, NFIX, NIPBL, NKX3-2, NLRP3, NOG, NOTCH1, NOTCH2, NPPC, NPR2, NPR3, NRAS, NSD1, NSD2, NSDHL, NXN, OBSL1, OFD1, ORC1, ORC4, ORC6, OSTM1, P3H1, P4HB, PAM16, PAPSS2, PCNT, PCYT1A, PDE3A, PDE4D, PEX14, PEX19, PEX5, PEX7, PGM3, PHEX, PHGDH, PIGV, PIK3C2A, PITX1, PKDCC, PITX2, PLOD2, PLS3, POC1A, POLR1A, POLR1C, POLR1D, POP1, POR, PPIB, PRKAR1A, PRKG2, PRMT7, PTDSS1, PTH1R, PTHLH, PTPN11, PUF60, PYCR1, RAB23, RAB33B, RAD21, RAF1, RASGRP2, RBM8A, RBPJ, RECQL4, RIT1, RMRP, ROR2, RPGRIP1L, RPL13, RUNX2, SALL1, SALL4, SBDS, SCUBE3, SEC24D, SERPINF1, SERPINH1, SETD2, SF3B4, SGMS2, SGSH, SH3BP2, SH3PXD2B, SHOC2, SHOX, SKI, SLC10A7, SLC17A5, SLC26A2, SLC29A3, SLC34A3, SLC35D1, SLC39A13, SLCO2A1, SMAD2, SMAD3, SMAD4, SMAD6, SMARCAL1, SMC1A, SMC3, SMOC1, SNRPB, SNX10, SOS1, SOST, SOX9, SP7, SPARC, SRCAP, SUMF1, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCIRG1, TCOF1, TCTEX1D2, TCTN3, TGDS, TGFB1, TGFB2, TGFB3, TGFBR2, TMEM165, TMEM216, TMEM38B, TNFRSF11A, TNFRSF11B, TNFSF11, TP63, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TTC21B, TWIST1, TYROBP, UFSP2, WBP11, WDR19, WDR34, WDR35, WDR60, WISP3, WNT1, WNT10B, WNT3, WNT5A, WNT7A, XRCC4, XYLT1, XYLT2, ZMPSTE24.
DVL1, DVL3, NXN, ROR2, WNT5A.
COL11A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, RNU4ATAC, SLC26A2, UFSP2.
COL10A1, DNAJC21, EFL1, MMP13, MMP9, PTH1R, RMRP, RUNX2, SBDS, SRP54.
FGFR3.
ACAN, ACP5, B3GALT6, BGN, CANT1, CHST3, CFAP410, COL11A2, COL2A1, DDR2, EIF2AK3, FN1, GPX4, KIF22, LBR, MATN3, MBTPS1, MMP13, NKX3-2, PAPSS2, PCYT1A, PLCB3, PRKG2, RPL13, SGMS2, SLC39A13, SMARCAL1, TRAPPC2, TRIP11, TRPV4, UFSP2.
AGPS, ARSL, ARSE, EBP, GNPAT, LBR, MGP, NSDHL, PEX14, PEX19,PEX5, PEX7.
ABCC9, KCNJ8.
Malformaciones craneofaciales
POLR1B, POLR1C, POLR1D, TCOF1.
ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCE1.
FGFR1, FGFR2.
ALPL, ALX4, ANKRD11, CBL, CD96, COLEC10, COLEC11, CTSK, CYP26B1, EFNB1, ERF, FAM20C, FBN1, FGFR1, FGFR2, FGFR3, FLNA, FREM1, FUZ, GLI3, HUWEI, IFT122, IFT43, IFT52, IL11RA, KAT6A, LTBP1, LRP5, MASP1, MEGF8, MSX2, P4HB, POR, PPP3CA, RAB23, RECQL4, RSPRY1, RUNX2, SKI, SMAD6, SMO, SOX9, TCF12, TGFBR1, TGFBR2, TMCO1, TWIST1, WDR19, WDR35, ZIC1, ZNF462.
FBN1, SKI.
AKT1, AKT3, ASPA, BRWD3, CHD8, DHCR24,DNMT3A, EXT2, EZH2, GFAP, GPC3, HERC1, HEPACAM, HUWE1, KIF7, MED12, MITF, MLC1, MTOR, NFIB, NFIX, NONO, NSD1, OFD1, PAK1, PIGA, PIGN, PIK3CA, PIK3R2, PTEN, RAB39B, RIN2, RNF135, SYN1, TBC1D7, TRIO.
AKT1, AKT3, APC2, ASPA, CCND2, CDKN1C, CHD8, CUL4B, DHCR24, DICER1, DIS3L2, DNMT3A, EED, EZH2, FGFR3, GLI3, GPC3, GPC4, GRIA3, HEPACAM, HERC1, HRAS, HUWE1, IGF2, KIF7, L1CAM, MED12, MLC1, MPDZ, MTOR, NFIX, NSD1, PDGFRB, PHF6, PIK3CA, PIK3R2, PTCH1, PTEN, RNF125, RNF135, SETD2, SUFU, SUZ12, TGFB3, TSC1, TSC2, UPF3B.
Región 11p15.5 (HG19, IGF2, CDKN1C, KCNQ1).
ACTB, ACTG1, ALG12, ALG3, ANKLE2, AMPD2, ASNS, ASPM, ATR, ATRX, ASXL1, C2CD3, CASC5, CASK, CKAP2L, CDC45, CDC6, CDK5RAP2, CDK6, CDT1, CENPF, CENPJ, CEP135, CEP152, CEP63, CHMP1A, CIT, CKAP2L, CLP1, COPB2, CREBBP, CTNNB1, DIAPH1, DNM1L, DNMT3A, DONSON, DPM1, DPP6, DYNC1H1, DYRK1A, EFTUD2, EIF2S3, ERCC4, ERCC6, EXOSC3, FANCA, IER3IP1, KIF11, KIF14, KIF1BP, KIF2A, KIF5C, KNL1, LIG4, LMNB1, MBD5, MCPH1, MED17, MEIS2, METTL5, MFSD2A, MYCN, NCAPD3, NBN, NDE1, NHEJ1, NIN, NIPBL, ORC1, ORC4, ORC6, PAFAH1B1, PCNT, PCDH12, PHC1, PHGDH, PLK4, PNKP, POMT1, PQBP1, PSAT1, RAD21, RARS2, RBBP8, RNU4ATAC, RTTN, SASS6, SEPSECS, SLC25A19, SLC9A6, STAMBP, STIL, TAF13, TRAPPC10, TRAPPC14, TRMT10A, TSEN2, TSEN34, TSEN54, TUBB2B, TUBG1, TUBGCP4, TUBGCP6, VPS53, VRK1, WDR62,WDR73, XRCC4, ZEB2, ZNF335.
Trastornos congénitos de la morfogénesis cerebral
AGTPBP1, AMPD2, ATD3A, CASK, CHMP1A, CLP1, COASY, EXOSC1, EXOSC3, EXOSC8, EXOSC9, MINPP1, PCLO, PPIL1, PRDM13, RARS2, SEPSECS, SLC25A46, TBC1D23, TOE1, TSEN15, TSEN2, TSEN34, TSEN54, VPS51, VPS53, VRK1.
ACTB, ACTG1, ADGRG1, APC2, ARX, B3GALNT2, B4GAT1, CDK5, CEP85L, COL4A1, COL6A1, COL6A2, COL6A3, CRADD, CRPPA, DCX, DYNC1H1, EOMES, FKRP, FKTN, FLNA, KATNB1, KIF2A, KIF5C, GMPPB, KATNB1, LAMA2, LAMB1, LARGE1, LMNA, MACF1, NDE1, PAFAH1B1, PHGDH, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RAB18, RAB3GAP1, RAB3GAP2, RELN, RXYLT1, SELENON, TBC1D20, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, VLDLR, WDR62, YWHAE.
ADGRG1, AKT3, CCND2, FIG4, OCLN, PI4KA, PIK3R2, PTEN, RTTN, SRPX2, TUBA1A, TUBA8, TUBB2B, TUBB3.
AKT3, CCDC88C, CCND2, L1CAM, MPDZ, PIK3R2, TRIM71, ZIC2, ZIC3.
CDON, DISP1, DLL1, FGF8, FGFR1, FOXH1, GAS1, GLI2, GLI3, NODAL, PLCH1, PTCH1, SHH, SIX3, STAG2, STIL, SUFU, TDGF1, TGIF1, ZIC2.
AKT3, CCND2, HEPACAM, MLC1, PIK3CA, PIK3R2, STRADA, TBC1D7.
Alteraciones del Tejido Conectivo
ABCC6, ABL1, ACTA2, ACVR1, ADA2, ADAMTS2, ADAMTSL4, ADAR, AEBP1, AKT1, ALDH18A1, ARF1, ARFGEF2, ASXL3, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, BCR, BGN, BRAF, C12orf57, C1R, C1S, CAVIN1, CBS, CC2D2A, CHD7, CHRNG, CHST14, CHST3, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, COL9A3, COX7B, CRB2, CYP11B1, CYP17A1, DNMT3A, DSE, EFEMP2, ELN, ENG, ENPP1, EPHB4, ERMARD, EXT1, EXT2, FARSB, FBLN5, FBN1, FBN2, FKBP14, FLCN, FLNA, FLNB, FMR1, FOXE3, GAA, GABRD, GANAB, GATA5, GGCX, GMPPB, HGD, HLA-B, HPGD, HRAS, IFIH1, IL12B, KANSL1, KCNH1, KCNJ8, LETM1, LMNA, LOX, LRP5, LTBP4, MARS2, MAT2A, MED12, MFAP5, MKS1, MMADHC, MNX1, MSTN, MTHFR, MTR, MTRR, MYH11, MYH3, MYLK, MYPN, NDE1, NEDD4L, NKX2-5, NOD2, NOTCH1, NPPA, NSD2, NSMCE2, OFD1, PAM16, PBX1, PCNT, PEX12, PIEZO2, PIGN, PIGY, PISD, PKD1, PKP2, PLOD1, PLOD3, POR, PPP1CB, PRDM16, PRDM5, PRKAR1A, PRKCSH, PRKG1, PTEN, PTPN11, PTPN22, RAF1, RERE, RET, RIN2, RNASEH2A, RNASEH2B, RNASEH2C, ROBO4, RPGRIP1L, RYR2, SALL4, SAMHD1, SEC61A1, SEC63, SEMA3E, SKI, SLC25A24, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, SMS, SOX10, STAT1, STAT3, TAB2, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM67, TMTC3, TNXB, TPM2, TPM3, TREX1, TSC1, TSC2, UBR1, UPF3B, WDR19, ZDHHC9, ZMPSTE24, ZNF469.
FBN1, TGFBR1, TGFBR2
ACTA2, BGN, CBS, COL11A1, COL11A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, ELN, FBN1, FBN2, FOXE3, HNRNPK, LOX, MAT2A, MFAP5, MYH11, MYLK, PLOD1, PRKG1, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2
SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
ADAMTS2, ADAMTSL2 ,AEBP1, B3GALT6, B4GALT7, C1R, C1S, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, FKBP14, FLNA, PLOD1, PRDM5, SLC39A13, TNXB, ZNF469
Otros síndromes polimalformativos
BRD4, HDAC8, NIPBL, RAD21, SMC1A, SMC3.
CHD7, SEMA3E.
VPS13B.
CREBBP, EP300.
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 (>30 ng/μl en >100 μl)
Recuerde etiquetar cada muestra con el nombre y apellidos del paciente o con el identificador utilizado en la hoja de petición.
DESCRIPCIÓN
Los errores innatos del metabolismo son un grupo de enfermedades raras causadas por defectos genéticos que alteran el metabolismo celular. Un número creciente de estos síndromes son tratables si se diagnostican temprano. Proponemos el estudio de 76 genes asociados a las enfermedades incluidas en el programa de cribado neonatal según las recomendaciones de la AEP, AAP y la ACMG.
ABCD1, ABCD4, ACAD8, ACADM, ACADS, ACADSB ACADVL, ACAT1, ACOX1, ADA, AHCY, ARG1, ASL, ASS1, AUH, BCKDHA, BCKDHB, BTD, CBS, CFTR, CPT1A, CPT2, CYP21A2, DBT, ETFA, ETFB, ETFDH, FAH, G6PC1, GAA, GALC, GALE, GALK1, GALT, GCH1, GCDH, GLA, GLDC, GNMT, GYS2, HADHA, HADHB, HBB, HCFC1, HLCS, HMGCL, HPD HSD17B10, IDUA, IVD, MAT1A, LMBRD1, MCCC1, MCCC2, MCEE, MMAA, MMAB, MMACHC, MMADHC, MMUT, MLYCD, MTHFR, MTRR, NAGS, OTC, PAH, PCBD1, PCCA, PCCB, PTS, QDPR, SLC2A1, SLC22A5, SLC25A13, SLC25A20, TAT
ABCA1, ABCB4, ABCD1, ABCD4, ABCG5, ABCG8, ACAD8, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACOX1, ACSF3, ADA, AGA, AGL, AGPS, AGXT, AHCY, ALAD, ALAS2, ALDH3A2, ALDH4A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALPL, APOA1, APOA2, APOA5, APOB, APOC2, APOC3, APOE, ARG1, ARSA, ARSB, ASAH1, ASL, ASS1, ATP7A, ATP7B, AUH, BCKDHA, BCKDHB, BTD, CBS, CD320, CETP, CFTR, CLN3, CLN5, CLN6, CLN8, CPOX, CPS1, CPT1A, CPT2, CTNS, CTSA, CTSD, CTSK, CYP11B1, CYP17A1, CYP19A1, CYP21A2, DBT, DDC, DDOST, DHCR7,DMP1, DOLK, DPAGT1, DPM3, DPYD, ENO3, ENPP1, EPHX2, ETFA, ETFB, ETFDH, ETHE1, FAH, FBP1, FECH, FGF23,FLAD1, FUCA1, G6PC1, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATM, GBA, GBE1, GCH1, GCDH, GHR, GK, GLA, GLB1, GLDC, GM2A, GNMT, GNPAT, GNPTAB, GNPTG, GNS, GRHPR, GUSB, GYG1, GYS1, GYS2, HADHA, HADHB, HBB, HCFC1, HEXA, HEXB, HFE, HJV, HGD, HGSNAT, HLCS, HMBS, HMGCL, HOGA1, HPD, HPRT1, HSD17B10,HSD3B2, HYAL1, IDS, IDUA, IVD, KHK, LAMP2, LCAT, LDHA, LDLR, LDLRAP1, LIPA, LIPC, LIPI, LMBRD1, LPA, LPL, MAGT1, MGAT2, MAT1A, MAN2B1, MANBA, MCCC1, MCCC2, MCEE, MCOLN1, MFSD8, MMAA, MMAB, MMACHC, MMADHC, MMUT, MLYCD, MPI, MTHFR, MTRR, NAGA, NAGLU, NAGS, NEU1, NGLY1, NPC1, NPC2, OTC, PAH, PCBD1, PCCA, PCCB, PCSK9, PDHB, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PKLR, PNPO, PMM2, POR, PPOX, PPT1, PRKAG2, PSAP, PTS, PYGL, PYGM, QDPR, RBCK1, RFKM, SGSH, SI, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC25A32, SLC25A36, SLC2A1, SLC2A2, SLC37A4, SLC3A1, SLC40A1, SLC6A19, SLC6A8, SLC7A7, SLC7A9, SLCO1B1, SLCO1B3, SMPD1, SRD5A3, SUMF1, TAT, TFR2, TPP1, TUSC3, UGT1A1, UMPS, UROD, UROS
CARACTERÍSTICAS
- Tiempo de respuesta: 35-45 días
DESCRIPCIÓN
Las cardiopatías congénitas son un grupo de enfermedades caracterizado por la presencia de alteraciones estructurales del corazón producidas por defectos en la formación del mismo durante el período embrionario. La gran mayoría de cardiopatías congénitas tienen una etiología multifactorial, si bien se estima que en el 8-10% de los casos son debidas a una anomalía cromosómica, y un 3-5% se asocian a un síndrome monogénico. Incluimos el estudio de 130 genes asociados a cardiopatías congénitas sindrómicas y no sindrómicas.
A2ML1, ABCC9, ACTA1, ACTC1, ACVR2B, ACVRL1, ANK2, ANKRD1, BMPR2, BRAF, CBL, CFC1, CFL2, CITED2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, CREBBP, CRELD1, CHD7, DTNA, EFEMP2, EHMT1, ELN, ENG, EP300, EVC, EYA4, FBN1, FBN2, FLNA, FLT4, GAA, GATA4, GATA5, GATA6, GDF1, GJA1, GJA5, HACD1, HAND2, HRAS, ITGA7, JAG1, KANSL1, KCNA5, KCNE1, KCNE2, KCNJ2, KCNQ1, KCNJ8, KCNK3, KDM6A, KLHL40, KLHL41, KMT2D, KRAS, LDB3, LEFTY2, LMNA, LOX, LZTR1 ,MAP2K1, MAP2K2, MAP3K20, MCTP2, MED12, MED13L, MFAP5, MIB1, MIB2, MRAS, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYLK, NEB, NEXN, NF1, NKX2-5, NKX2-6, NOTCH1, NRAS, PKP2, PLEKHM2, PRDM16, PTPN11, RAF1, RASA1, RIT1, RRAS, RRAS2, SCN5A, SELENON, SHOC2, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, SMAD6, SMAD9, SOS1, SOS2, SPRED1, TAB2, TBX1, TBX20, TBX4, TBX5, TGFB2, TGFB3, TGFBR1, TGFBR2, TNNC1, TNNI3, TNNI3K, TNNT1, TNNT2, TPM1, TPM2, TPM3, TTN, UPF3B, ZFPM2, ZIC3.
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
El término dismorfología hace referencia a una parte de la genética médica que se encarga del estudio de las malformaciones humanas o defectos congénitos, que pueden tener un origen genético o ambiental acompañados o no de retraso en el desarrollo intelectual o psicomotor.
Malformaciones óseas
ALPL, ANO5, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, DSPP, FAM46A, FGFR3, FKBP10, GORAB, IFITM5, KDELR2, LRP5, MBTPS2, MESD, NOTCH2, P3H1, P4HB, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SLC26A2, SOX9, SP7, SPARC, TENT5A, TMEM38B, WNT1.
ABCC9, ACAN, ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGA, AGPS, AIFM1, ALPL, ALG9, ALPL, ALX1, ALX3, ALX4, AMER1, ANKH, ANKRD11, ANO5, ANTXR2, ARHGAP31, ARSB, ARSE, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, CA2, CANT1, CASR, CC2D2A, CCDC8, CCN6, CDC45, CDH3, CDKN1C, CDT1, CEP120, CEP290, CFAP410, CHST14, CHST3, CHSY1, CLCN5, CLCN7, COG1, COG4, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREB3L1, CREBBP, CRTAP, CSPP1, CSTA, CTSK, CUL7, CYP27B1, DDR2, DHCR24, DHCR7, DHODH, DLL3, DLL4, DLX3, DLX5, DMP1, DOCK6, DVL1, DVL3, DYM, DYNC2H1, EBP, EED, EFTUD2, EIF2AK3, ENAM, ENPP1, EOGT, ERF, ESCO2, EVC, EVC2, EXT1, EXT2, EXTL3, EZH2, FAM111A, FAM20A, FAM20C, FAM83H, FBLN1, FBN1, FBN2, FERMT3, FGD1, FGF10, FGF16, FGF23, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FLNA, FLNB, FN1, FUCA1, FZD2, GALNS, GALNT3, GDF3, GDF5, GDF6, GHR, GJA1, GLB1, GLI3, GNAS, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC6, GPX4, GSC, GUSB, GZF1, HDAC8, HES7, HESX1, HGSNAT, HOXA13, HOXD13, HPGD, HS2ST1, HSPG2, ICK, IDH1, IDS, IDUA, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IFT81, IHH, IKBKG, IL1RN, IMPAD1, INPPL1, KAT6B, KIAA0753, KIF22, KIF7, KMT2A, KMT2D, LARP7, LBR, LEMD3, LEPRE1, LFNG, LHX4, LIFR, LMBR1, LMNA, LMX1B, LONP1, LPIN2, LRP4, LRP5, LRRK1, LTBP1, LTBP3, MAFB, MAN2B1, MAP2K1, MAP2K2, MAP3K7, MASP1, MATN3, MBTPS1, MBTPS2, MEGF8, MEOX1, MESP2, MGP, MKS1, MMP13, MMP2, MMP9, MNX1, , MSX2, MTX2, MTAP, MYCN, NAGLU, NANS, NEK1, NEU1, NF1, NFIX, NIPBL, NKX3-2, NLRP3, NOG, NOTCH1, NOTCH2, NPPC, NPR2, NPR3, NRAS, NSD1, NSD2, NSDHL, NXN, OBSL1, OFD1, ORC1, ORC4, ORC6, OSTM1, P3H1, P4HB, PAM16, PAPSS2, PCNT, PCYT1A, PDE3A, PDE4D, PEX14, PEX19, PEX5, PEX7, PGM3, PHEX, PHGDH, PIGV, PIK3C2A, PITX1, PKDCC, PITX2, PLOD2, PLS3, POC1A, POLR1A, POLR1C, POLR1D, POP1, POR, PPIB, PRKAR1A, PRKG2, PRMT7, PTDSS1, PTH1R, PTHLH, PTPN11, PUF60, PYCR1, RAB23, RAB33B, RAD21, RAF1, RASGRP2, RBM8A, RBPJ, RECQL4, RIT1, RMRP, ROR2, RPGRIP1L, RPL13, RUNX2, SALL1, SALL4, SBDS, SCUBE3, SEC24D, SERPINF1, SERPINH1, SETD2, SF3B4, SGMS2, SGSH, SH3BP2, SH3PXD2B, SHOC2, SHOX, SKI, SLC10A7, SLC17A5, SLC26A2, SLC29A3, SLC34A3, SLC35D1, SLC39A13, SLCO2A1, SMAD2, SMAD3, SMAD4, SMAD6, SMARCAL1, SMC1A, SMC3, SMOC1, SNRPB, SNX10, SOS1, SOST, SOX9, SP7, SPARC, SRCAP, SUMF1, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCIRG1, TCOF1, TCTEX1D2, TCTN3, TGDS, TGFB1, TGFB2, TGFB3, TGFBR2, TMEM165, TMEM216, TMEM38B, TNFRSF11A, TNFRSF11B, TNFSF11, TP63, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TTC21B, TWIST1, TYROBP, UFSP2, WBP11, WDR19, WDR34, WDR35, WDR60, WISP3, WNT1, WNT10B, WNT3, WNT5A, WNT7A, XRCC4, XYLT1, XYLT2, ZMPSTE24.
DVL1, DVL3, NXN, ROR2, WNT5A.
COL11A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, RNU4ATAC, SLC26A2, UFSP2.
COL10A1, DNAJC21, EFL1, MMP13, MMP9, PTH1R, RMRP, RUNX2, SBDS, SRP54.
FGFR3.
ACAN, ACP5, B3GALT6, BGN, CANT1, CHST3, CFAP410, COL11A2, COL2A1, DDR2, EIF2AK3, FN1, GPX4, KIF22, LBR, MATN3, MBTPS1, MMP13, NKX3-2, PAPSS2, PCYT1A, PLCB3, PRKG2, RPL13, SGMS2, SLC39A13, SMARCAL1, TRAPPC2, TRIP11, TRPV4, UFSP2.
AGPS, ARSL, ARSE, EBP, GNPAT, LBR, MGP, NSDHL, PEX14, PEX19,PEX5, PEX7.
ABCC9, KCNJ8.
Malformaciones craneofaciales
POLR1B, POLR1C, POLR1D, TCOF1.
ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCE1.
FGFR1, FGFR2.
ALPL, ALX4, ANKRD11, CBL, CD96, COLEC10, COLEC11, CTSK, CYP26B1, EFNB1, ERF, FAM20C, FBN1, FGFR1, FGFR2, FGFR3, FLNA, FREM1, FUZ, GLI3, HUWEI, IFT122, IFT43, IFT52, IL11RA, KAT6A, LTBP1, LRP5, MASP1, MEGF8, MSX2, P4HB, POR, PPP3CA, RAB23, RECQL4, RSPRY1, RUNX2, SKI, SMAD6, SMO, SOX9, TCF12, TGFBR1, TGFBR2, TMCO1, TWIST1, WDR19, WDR35, ZIC1, ZNF462.
FBN1, SKI.
AKT1, AKT3, ASPA, BRWD3, CHD8, DHCR24,DNMT3A, EXT2, EZH2, GFAP, GPC3, HERC1, HEPACAM, HUWE1, KIF7, MED12, MITF, MLC1, MTOR, NFIB, NFIX, NONO, NSD1, OFD1, PAK1, PIGA, PIGN, PIK3CA, PIK3R2, PTEN, RAB39B, RIN2, RNF135, SYN1, TBC1D7, TRIO.
AKT1, AKT3, APC2, ASPA, CCND2, CDKN1C, CHD8, CUL4B, DHCR24, DICER1, DIS3L2, DNMT3A, EED, EZH2, FGFR3, GLI3, GPC3, GPC4, GRIA3, HEPACAM, HERC1, HRAS, HUWE1, IGF2, KIF7, L1CAM, MED12, MLC1, MPDZ, MTOR, NFIX, NSD1, PDGFRB, PHF6, PIK3CA, PIK3R2, PTCH1, PTEN, RNF125, RNF135, SETD2, SUFU, SUZ12, TGFB3, TSC1, TSC2, UPF3B.
Región 11p15.5 (HG19, IGF2, CDKN1C, KCNQ1).
ACTB, ACTG1, ALG12, ALG3, ANKLE2, AMPD2, ASNS, ASPM, ATR, ATRX, ASXL1, C2CD3, CASC5, CASK, CKAP2L, CDC45, CDC6, CDK5RAP2, CDK6, CDT1, CENPF, CENPJ, CEP135, CEP152, CEP63, CHMP1A, CIT, CKAP2L, CLP1, COPB2, CREBBP, CTNNB1, DIAPH1, DNM1L, DNMT3A, DONSON, DPM1, DPP6, DYNC1H1, DYRK1A, EFTUD2, EIF2S3, ERCC4, ERCC6, EXOSC3, FANCA, IER3IP1, KIF11, KIF14, KIF1BP, KIF2A, KIF5C, KNL1, LIG4, LMNB1, MBD5, MCPH1, MED17, MEIS2, METTL5, MFSD2A, MYCN, NCAPD3, NBN, NDE1, NHEJ1, NIN, NIPBL, ORC1, ORC4, ORC6, PAFAH1B1, PCNT, PCDH12, PHC1, PHGDH, PLK4, PNKP, POMT1, PQBP1, PSAT1, RAD21, RARS2, RBBP8, RNU4ATAC, RTTN, SASS6, SEPSECS, SLC25A19, SLC9A6, STAMBP, STIL, TAF13, TRAPPC10, TRAPPC14, TRMT10A, TSEN2, TSEN34, TSEN54, TUBB2B, TUBG1, TUBGCP4, TUBGCP6, VPS53, VRK1, WDR62,WDR73, XRCC4, ZEB2, ZNF335.
Trastornos congénitos de la morfogénesis cerebral
AGTPBP1, AMPD2, ATD3A, CASK, CHMP1A, CLP1, COASY, EXOSC1, EXOSC3, EXOSC8, EXOSC9, MINPP1, PCLO, PPIL1, PRDM13, RARS2, SEPSECS, SLC25A46, TBC1D23, TOE1, TSEN15, TSEN2, TSEN34, TSEN54, VPS51, VPS53, VRK1.
ACTB, ACTG1, ADGRG1, APC2, ARX, B3GALNT2, B4GAT1, CDK5, CEP85L, COL4A1, COL6A1, COL6A2, COL6A3, CRADD, CRPPA, DCX, DYNC1H1, EOMES, FKRP, FKTN, FLNA, KATNB1, KIF2A, KIF5C, GMPPB, KATNB1, LAMA2, LAMB1, LARGE1, LMNA, MACF1, NDE1, PAFAH1B1, PHGDH, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RAB18, RAB3GAP1, RAB3GAP2, RELN, RXYLT1, SELENON, TBC1D20, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, VLDLR, WDR62, YWHAE.
ADGRG1, AKT3, CCND2, FIG4, OCLN, PI4KA, PIK3R2, PTEN, RTTN, SRPX2, TUBA1A, TUBA8, TUBB2B, TUBB3.
AKT3, CCDC88C, CCND2, L1CAM, MPDZ, PIK3R2, TRIM71, ZIC2, ZIC3.
CDON, DISP1, DLL1, FGF8, FGFR1, FOXH1, GAS1, GLI2, GLI3, NODAL, PLCH1, PTCH1, SHH, SIX3, STAG2, STIL, SUFU, TDGF1, TGIF1, ZIC2.
AKT3, CCND2, HEPACAM, MLC1, PIK3CA, PIK3R2, STRADA, TBC1D7.
Alteraciones del Tejido Conectivo
ABCC6, ABL1, ACTA2, ACVR1, ADA2, ADAMTS2, ADAMTSL4, ADAR, AEBP1, AKT1, ALDH18A1, ARF1, ARFGEF2, ASXL3, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, BCR, BGN, BRAF, C12orf57, C1R, C1S, CAVIN1, CBS, CC2D2A, CHD7, CHRNG, CHST14, CHST3, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, COL9A3, COX7B, CRB2, CYP11B1, CYP17A1, DNMT3A, DSE, EFEMP2, ELN, ENG, ENPP1, EPHB4, ERMARD, EXT1, EXT2, FARSB, FBLN5, FBN1, FBN2, FKBP14, FLCN, FLNA, FLNB, FMR1, FOXE3, GAA, GABRD, GANAB, GATA5, GGCX, GMPPB, HGD, HLA-B, HPGD, HRAS, IFIH1, IL12B, KANSL1, KCNH1, KCNJ8, LETM1, LMNA, LOX, LRP5, LTBP4, MARS2, MAT2A, MED12, MFAP5, MKS1, MMADHC, MNX1, MSTN, MTHFR, MTR, MTRR, MYH11, MYH3, MYLK, MYPN, NDE1, NEDD4L, NKX2-5, NOD2, NOTCH1, NPPA, NSD2, NSMCE2, OFD1, PAM16, PBX1, PCNT, PEX12, PIEZO2, PIGN, PIGY, PISD, PKD1, PKP2, PLOD1, PLOD3, POR, PPP1CB, PRDM16, PRDM5, PRKAR1A, PRKCSH, PRKG1, PTEN, PTPN11, PTPN22, RAF1, RERE, RET, RIN2, RNASEH2A, RNASEH2B, RNASEH2C, ROBO4, RPGRIP1L, RYR2, SALL4, SAMHD1, SEC61A1, SEC63, SEMA3E, SKI, SLC25A24, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, SMS, SOX10, STAT1, STAT3, TAB2, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM67, TMTC3, TNXB, TPM2, TPM3, TREX1, TSC1, TSC2, UBR1, UPF3B, WDR19, ZDHHC9, ZMPSTE24, ZNF469.
FBN1, TGFBR1, TGFBR2
ACTA2, BGN, CBS, COL11A1, COL11A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, ELN, FBN1, FBN2, FOXE3, HNRNPK, LOX, MAT2A, MFAP5, MYH11, MYLK, PLOD1, PRKG1, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2
SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
ADAMTS2, ADAMTSL2 ,AEBP1, B3GALT6, B4GALT7, C1R, C1S, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, FKBP14, FLNA, PLOD1, PRDM5, SLC39A13, TNXB, ZNF469
Otros síndromes polimalformativos
BRD4, HDAC8, NIPBL, RAD21, SMC1A, SMC3.
CHD7, SEMA3E.
VPS13B.
CREBBP, EP300.
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.
- Pediatría
DESCRIPCIÓN
Los errores innatos del metabolismo son un grupo de enfermedades raras causadas por defectos genéticos que alteran el metabolismo celular. Un número creciente de estos síndromes son tratables si se diagnostican temprano. Proponemos el estudio de 76 genes asociados a las enfermedades incluidas en el programa de cribado neonatal según las recomendaciones de la AEP, AAP y la ACMG.
ABCD1, ABCD4, ACAD8, ACADM, ACADS, ACADSB ACADVL, ACAT1, ACOX1, ADA, AHCY, ARG1, ASL, ASS1, AUH, BCKDHA, BCKDHB, BTD, CBS, CFTR, CPT1A, CPT2, CYP21A2, DBT, ETFA, ETFB, ETFDH, FAH, G6PC1, GAA, GALC, GALE, GALK1, GALT, GCH1, GCDH, GLA, GLDC, GNMT, GYS2, HADHA, HADHB, HBB, HCFC1, HLCS, HMGCL, HPD HSD17B10, IDUA, IVD, MAT1A, LMBRD1, MCCC1, MCCC2, MCEE, MMAA, MMAB, MMACHC, MMADHC, MMUT, MLYCD, MTHFR, MTRR, NAGS, OTC, PAH, PCBD1, PCCA, PCCB, PTS, QDPR, SLC2A1, SLC22A5, SLC25A13, SLC25A20, TAT
ABCA1, ABCB4, ABCD1, ABCD4, ABCG5, ABCG8, ACAD8, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACOX1, ACSF3, ADA, AGA, AGL, AGPS, AGXT, AHCY, ALAD, ALAS2, ALDH3A2, ALDH4A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALPL, APOA1, APOA2, APOA5, APOB, APOC2, APOC3, APOE, ARG1, ARSA, ARSB, ASAH1, ASL, ASS1, ATP7A, ATP7B, AUH, BCKDHA, BCKDHB, BTD, CBS, CD320, CETP, CFTR, CLN3, CLN5, CLN6, CLN8, CPOX, CPS1, CPT1A, CPT2, CTNS, CTSA, CTSD, CTSK, CYP11B1, CYP17A1, CYP19A1, CYP21A2, DBT, DDC, DDOST, DHCR7,DMP1, DOLK, DPAGT1, DPM3, DPYD, ENO3, ENPP1, EPHX2, ETFA, ETFB, ETFDH, ETHE1, FAH, FBP1, FECH, FGF23,FLAD1, FUCA1, G6PC1, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATM, GBA, GBE1, GCH1, GCDH, GHR, GK, GLA, GLB1, GLDC, GM2A, GNMT, GNPAT, GNPTAB, GNPTG, GNS, GRHPR, GUSB, GYG1, GYS1, GYS2, HADHA, HADHB, HBB, HCFC1, HEXA, HEXB, HFE, HJV, HGD, HGSNAT, HLCS, HMBS, HMGCL, HOGA1, HPD, HPRT1, HSD17B10,HSD3B2, HYAL1, IDS, IDUA, IVD, KHK, LAMP2, LCAT, LDHA, LDLR, LDLRAP1, LIPA, LIPC, LIPI, LMBRD1, LPA, LPL, MAGT1, MGAT2, MAT1A, MAN2B1, MANBA, MCCC1, MCCC2, MCEE, MCOLN1, MFSD8, MMAA, MMAB, MMACHC, MMADHC, MMUT, MLYCD, MPI, MTHFR, MTRR, NAGA, NAGLU, NAGS, NEU1, NGLY1, NPC1, NPC2, OTC, PAH, PCBD1, PCCA, PCCB, PCSK9, PDHB, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PKLR, PNPO, PMM2, POR, PPOX, PPT1, PRKAG2, PSAP, PTS, PYGL, PYGM, QDPR, RBCK1, RFKM, SGSH, SI, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC25A32, SLC25A36, SLC2A1, SLC2A2, SLC37A4, SLC3A1, SLC40A1, SLC6A19, SLC6A8, SLC7A7, SLC7A9, SLCO1B1, SLCO1B3, SMPD1, SRD5A3, SUMF1, TAT, TFR2, TPP1, TUSC3, UGT1A1, UMPS, UROD, UROS
CARACTERÍSTICAS
- Tiempo de respuesta: 35-45 días
DESCRIPCIÓN
Las cardiopatías congénitas son un grupo de enfermedades caracterizado por la presencia de alteraciones estructurales del corazón producidas por defectos en la formación del mismo durante el período embrionario. La gran mayoría de cardiopatías congénitas tienen una etiología multifactorial, si bien se estima que en el 8-10% de los casos son debidas a una anomalía cromosómica, y un 3-5% se asocian a un síndrome monogénico. Incluimos el estudio de 130 genes asociados a cardiopatías congénitas sindrómicas y no sindrómicas.
A2ML1, ABCC9, ACTA1, ACTC1, ACVR2B, ACVRL1, ANK2, ANKRD1, BMPR2, BRAF, CBL, CFC1, CFL2, CITED2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, CREBBP, CRELD1, CHD7, DTNA, EFEMP2, EHMT1, ELN, ENG, EP300, EVC, EYA4, FBN1, FBN2, FLNA, FLT4, GAA, GATA4, GATA5, GATA6, GDF1, GJA1, GJA5, HACD1, HAND2, HRAS, ITGA7, JAG1, KANSL1, KCNA5, KCNE1, KCNE2, KCNJ2, KCNQ1, KCNJ8, KCNK3, KDM6A, KLHL40, KLHL41, KMT2D, KRAS, LDB3, LEFTY2, LMNA, LOX, LZTR1 ,MAP2K1, MAP2K2, MAP3K20, MCTP2, MED12, MED13L, MFAP5, MIB1, MIB2, MRAS, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYLK, NEB, NEXN, NF1, NKX2-5, NKX2-6, NOTCH1, NRAS, PKP2, PLEKHM2, PRDM16, PTPN11, RAF1, RASA1, RIT1, RRAS, RRAS2, SCN5A, SELENON, SHOC2, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, SMAD6, SMAD9, SOS1, SOS2, SPRED1, TAB2, TBX1, TBX20, TBX4, TBX5, TGFB2, TGFB3, TGFBR1, TGFBR2, TNNC1, TNNI3, TNNI3K, TNNT1, TNNT2, TPM1, TPM2, TPM3, TTN, UPF3B, ZFPM2, ZIC3.
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
El término dismorfología hace referencia a una parte de la genética médica que se encarga del estudio de las malformaciones humanas o defectos congénitos, que pueden tener un origen genético o ambiental acompañados o no de retraso en el desarrollo intelectual o psicomotor.
Malformaciones óseas
ALPL, ANO5, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, DSPP, FAM46A, FGFR3, FKBP10, GORAB, IFITM5, KDELR2, LRP5, MBTPS2, MESD, NOTCH2, P3H1, P4HB, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SLC26A2, SOX9, SP7, SPARC, TENT5A, TMEM38B, WNT1.
ABCC9, ACAN, ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGA, AGPS, AIFM1, ALPL, ALG9, ALPL, ALX1, ALX3, ALX4, AMER1, ANKH, ANKRD11, ANO5, ANTXR2, ARHGAP31, ARSB, ARSE, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, CA2, CANT1, CASR, CC2D2A, CCDC8, CCN6, CDC45, CDH3, CDKN1C, CDT1, CEP120, CEP290, CFAP410, CHST14, CHST3, CHSY1, CLCN5, CLCN7, COG1, COG4, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREB3L1, CREBBP, CRTAP, CSPP1, CSTA, CTSK, CUL7, CYP27B1, DDR2, DHCR24, DHCR7, DHODH, DLL3, DLL4, DLX3, DLX5, DMP1, DOCK6, DVL1, DVL3, DYM, DYNC2H1, EBP, EED, EFTUD2, EIF2AK3, ENAM, ENPP1, EOGT, ERF, ESCO2, EVC, EVC2, EXT1, EXT2, EXTL3, EZH2, FAM111A, FAM20A, FAM20C, FAM83H, FBLN1, FBN1, FBN2, FERMT3, FGD1, FGF10, FGF16, FGF23, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FLNA, FLNB, FN1, FUCA1, FZD2, GALNS, GALNT3, GDF3, GDF5, GDF6, GHR, GJA1, GLB1, GLI3, GNAS, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC6, GPX4, GSC, GUSB, GZF1, HDAC8, HES7, HESX1, HGSNAT, HOXA13, HOXD13, HPGD, HS2ST1, HSPG2, ICK, IDH1, IDS, IDUA, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IFT81, IHH, IKBKG, IL1RN, IMPAD1, INPPL1, KAT6B, KIAA0753, KIF22, KIF7, KMT2A, KMT2D, LARP7, LBR, LEMD3, LEPRE1, LFNG, LHX4, LIFR, LMBR1, LMNA, LMX1B, LONP1, LPIN2, LRP4, LRP5, LRRK1, LTBP1, LTBP3, MAFB, MAN2B1, MAP2K1, MAP2K2, MAP3K7, MASP1, MATN3, MBTPS1, MBTPS2, MEGF8, MEOX1, MESP2, MGP, MKS1, MMP13, MMP2, MMP9, MNX1, , MSX2, MTX2, MTAP, MYCN, NAGLU, NANS, NEK1, NEU1, NF1, NFIX, NIPBL, NKX3-2, NLRP3, NOG, NOTCH1, NOTCH2, NPPC, NPR2, NPR3, NRAS, NSD1, NSD2, NSDHL, NXN, OBSL1, OFD1, ORC1, ORC4, ORC6, OSTM1, P3H1, P4HB, PAM16, PAPSS2, PCNT, PCYT1A, PDE3A, PDE4D, PEX14, PEX19, PEX5, PEX7, PGM3, PHEX, PHGDH, PIGV, PIK3C2A, PITX1, PKDCC, PITX2, PLOD2, PLS3, POC1A, POLR1A, POLR1C, POLR1D, POP1, POR, PPIB, PRKAR1A, PRKG2, PRMT7, PTDSS1, PTH1R, PTHLH, PTPN11, PUF60, PYCR1, RAB23, RAB33B, RAD21, RAF1, RASGRP2, RBM8A, RBPJ, RECQL4, RIT1, RMRP, ROR2, RPGRIP1L, RPL13, RUNX2, SALL1, SALL4, SBDS, SCUBE3, SEC24D, SERPINF1, SERPINH1, SETD2, SF3B4, SGMS2, SGSH, SH3BP2, SH3PXD2B, SHOC2, SHOX, SKI, SLC10A7, SLC17A5, SLC26A2, SLC29A3, SLC34A3, SLC35D1, SLC39A13, SLCO2A1, SMAD2, SMAD3, SMAD4, SMAD6, SMARCAL1, SMC1A, SMC3, SMOC1, SNRPB, SNX10, SOS1, SOST, SOX9, SP7, SPARC, SRCAP, SUMF1, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCIRG1, TCOF1, TCTEX1D2, TCTN3, TGDS, TGFB1, TGFB2, TGFB3, TGFBR2, TMEM165, TMEM216, TMEM38B, TNFRSF11A, TNFRSF11B, TNFSF11, TP63, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TTC21B, TWIST1, TYROBP, UFSP2, WBP11, WDR19, WDR34, WDR35, WDR60, WISP3, WNT1, WNT10B, WNT3, WNT5A, WNT7A, XRCC4, XYLT1, XYLT2, ZMPSTE24.
DVL1, DVL3, NXN, ROR2, WNT5A.
COL11A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, RNU4ATAC, SLC26A2, UFSP2.
COL10A1, DNAJC21, EFL1, MMP13, MMP9, PTH1R, RMRP, RUNX2, SBDS, SRP54.
FGFR3.
ACAN, ACP5, B3GALT6, BGN, CANT1, CHST3, CFAP410, COL11A2, COL2A1, DDR2, EIF2AK3, FN1, GPX4, KIF22, LBR, MATN3, MBTPS1, MMP13, NKX3-2, PAPSS2, PCYT1A, PLCB3, PRKG2, RPL13, SGMS2, SLC39A13, SMARCAL1, TRAPPC2, TRIP11, TRPV4, UFSP2.
AGPS, ARSL, ARSE, EBP, GNPAT, LBR, MGP, NSDHL, PEX14, PEX19,PEX5, PEX7.
ABCC9, KCNJ8.
Malformaciones craneofaciales
POLR1B, POLR1C, POLR1D, TCOF1.
ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCE1.
FGFR1, FGFR2.
ALPL, ALX4, ANKRD11, CBL, CD96, COLEC10, COLEC11, CTSK, CYP26B1, EFNB1, ERF, FAM20C, FBN1, FGFR1, FGFR2, FGFR3, FLNA, FREM1, FUZ, GLI3, HUWEI, IFT122, IFT43, IFT52, IL11RA, KAT6A, LTBP1, LRP5, MASP1, MEGF8, MSX2, P4HB, POR, PPP3CA, RAB23, RECQL4, RSPRY1, RUNX2, SKI, SMAD6, SMO, SOX9, TCF12, TGFBR1, TGFBR2, TMCO1, TWIST1, WDR19, WDR35, ZIC1, ZNF462.
FBN1, SKI.
AKT1, AKT3, ASPA, BRWD3, CHD8, DHCR24,DNMT3A, EXT2, EZH2, GFAP, GPC3, HERC1, HEPACAM, HUWE1, KIF7, MED12, MITF, MLC1, MTOR, NFIB, NFIX, NONO, NSD1, OFD1, PAK1, PIGA, PIGN, PIK3CA, PIK3R2, PTEN, RAB39B, RIN2, RNF135, SYN1, TBC1D7, TRIO.
AKT1, AKT3, APC2, ASPA, CCND2, CDKN1C, CHD8, CUL4B, DHCR24, DICER1, DIS3L2, DNMT3A, EED, EZH2, FGFR3, GLI3, GPC3, GPC4, GRIA3, HEPACAM, HERC1, HRAS, HUWE1, IGF2, KIF7, L1CAM, MED12, MLC1, MPDZ, MTOR, NFIX, NSD1, PDGFRB, PHF6, PIK3CA, PIK3R2, PTCH1, PTEN, RNF125, RNF135, SETD2, SUFU, SUZ12, TGFB3, TSC1, TSC2, UPF3B.
Región 11p15.5 (HG19, IGF2, CDKN1C, KCNQ1).
ACTB, ACTG1, ALG12, ALG3, ANKLE2, AMPD2, ASNS, ASPM, ATR, ATRX, ASXL1, C2CD3, CASC5, CASK, CKAP2L, CDC45, CDC6, CDK5RAP2, CDK6, CDT1, CENPF, CENPJ, CEP135, CEP152, CEP63, CHMP1A, CIT, CKAP2L, CLP1, COPB2, CREBBP, CTNNB1, DIAPH1, DNM1L, DNMT3A, DONSON, DPM1, DPP6, DYNC1H1, DYRK1A, EFTUD2, EIF2S3, ERCC4, ERCC6, EXOSC3, FANCA, IER3IP1, KIF11, KIF14, KIF1BP, KIF2A, KIF5C, KNL1, LIG4, LMNB1, MBD5, MCPH1, MED17, MEIS2, METTL5, MFSD2A, MYCN, NCAPD3, NBN, NDE1, NHEJ1, NIN, NIPBL, ORC1, ORC4, ORC6, PAFAH1B1, PCNT, PCDH12, PHC1, PHGDH, PLK4, PNKP, POMT1, PQBP1, PSAT1, RAD21, RARS2, RBBP8, RNU4ATAC, RTTN, SASS6, SEPSECS, SLC25A19, SLC9A6, STAMBP, STIL, TAF13, TRAPPC10, TRAPPC14, TRMT10A, TSEN2, TSEN34, TSEN54, TUBB2B, TUBG1, TUBGCP4, TUBGCP6, VPS53, VRK1, WDR62,WDR73, XRCC4, ZEB2, ZNF335.
Trastornos congénitos de la morfogénesis cerebral
AGTPBP1, AMPD2, ATD3A, CASK, CHMP1A, CLP1, COASY, EXOSC1, EXOSC3, EXOSC8, EXOSC9, MINPP1, PCLO, PPIL1, PRDM13, RARS2, SEPSECS, SLC25A46, TBC1D23, TOE1, TSEN15, TSEN2, TSEN34, TSEN54, VPS51, VPS53, VRK1.
ACTB, ACTG1, ADGRG1, APC2, ARX, B3GALNT2, B4GAT1, CDK5, CEP85L, COL4A1, COL6A1, COL6A2, COL6A3, CRADD, CRPPA, DCX, DYNC1H1, EOMES, FKRP, FKTN, FLNA, KATNB1, KIF2A, KIF5C, GMPPB, KATNB1, LAMA2, LAMB1, LARGE1, LMNA, MACF1, NDE1, PAFAH1B1, PHGDH, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RAB18, RAB3GAP1, RAB3GAP2, RELN, RXYLT1, SELENON, TBC1D20, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, VLDLR, WDR62, YWHAE.
ADGRG1, AKT3, CCND2, FIG4, OCLN, PI4KA, PIK3R2, PTEN, RTTN, SRPX2, TUBA1A, TUBA8, TUBB2B, TUBB3.
AKT3, CCDC88C, CCND2, L1CAM, MPDZ, PIK3R2, TRIM71, ZIC2, ZIC3.
CDON, DISP1, DLL1, FGF8, FGFR1, FOXH1, GAS1, GLI2, GLI3, NODAL, PLCH1, PTCH1, SHH, SIX3, STAG2, STIL, SUFU, TDGF1, TGIF1, ZIC2.
AKT3, CCND2, HEPACAM, MLC1, PIK3CA, PIK3R2, STRADA, TBC1D7.
Alteraciones del Tejido Conectivo
ABCC6, ABL1, ACTA2, ACVR1, ADA2, ADAMTS2, ADAMTSL4, ADAR, AEBP1, AKT1, ALDH18A1, ARF1, ARFGEF2, ASXL3, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, BCR, BGN, BRAF, C12orf57, C1R, C1S, CAVIN1, CBS, CC2D2A, CHD7, CHRNG, CHST14, CHST3, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, COL9A3, COX7B, CRB2, CYP11B1, CYP17A1, DNMT3A, DSE, EFEMP2, ELN, ENG, ENPP1, EPHB4, ERMARD, EXT1, EXT2, FARSB, FBLN5, FBN1, FBN2, FKBP14, FLCN, FLNA, FLNB, FMR1, FOXE3, GAA, GABRD, GANAB, GATA5, GGCX, GMPPB, HGD, HLA-B, HPGD, HRAS, IFIH1, IL12B, KANSL1, KCNH1, KCNJ8, LETM1, LMNA, LOX, LRP5, LTBP4, MARS2, MAT2A, MED12, MFAP5, MKS1, MMADHC, MNX1, MSTN, MTHFR, MTR, MTRR, MYH11, MYH3, MYLK, MYPN, NDE1, NEDD4L, NKX2-5, NOD2, NOTCH1, NPPA, NSD2, NSMCE2, OFD1, PAM16, PBX1, PCNT, PEX12, PIEZO2, PIGN, PIGY, PISD, PKD1, PKP2, PLOD1, PLOD3, POR, PPP1CB, PRDM16, PRDM5, PRKAR1A, PRKCSH, PRKG1, PTEN, PTPN11, PTPN22, RAF1, RERE, RET, RIN2, RNASEH2A, RNASEH2B, RNASEH2C, ROBO4, RPGRIP1L, RYR2, SALL4, SAMHD1, SEC61A1, SEC63, SEMA3E, SKI, SLC25A24, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, SMS, SOX10, STAT1, STAT3, TAB2, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM67, TMTC3, TNXB, TPM2, TPM3, TREX1, TSC1, TSC2, UBR1, UPF3B, WDR19, ZDHHC9, ZMPSTE24, ZNF469.
FBN1, TGFBR1, TGFBR2
ACTA2, BGN, CBS, COL11A1, COL11A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, ELN, FBN1, FBN2, FOXE3, HNRNPK, LOX, MAT2A, MFAP5, MYH11, MYLK, PLOD1, PRKG1, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2
SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
ADAMTS2, ADAMTSL2 ,AEBP1, B3GALT6, B4GALT7, C1R, C1S, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, FKBP14, FLNA, PLOD1, PRDM5, SLC39A13, TNXB, ZNF469
Otros síndromes polimalformativos
BRD4, HDAC8, NIPBL, RAD21, SMC1A, SMC3.
CHD7, SEMA3E.
VPS13B.
CREBBP, EP300.
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.