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Epilepsia (panel NGS basado en WES de 596 genes, incluyendo análisis de CNVs)
AARS, ABAT, ABCC8, ACOX1, ACTL6B, ACY1, ADAR, ADCK3, ADGRG1, ADGRV1, ADPRHL2, ADSL, AGA, AHI1, AIMP1, AKT3, ALDH4A1, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALPL, AMPD2, AMT, AP2M1, AP3B2, APTX, ARFGEF2, ARG1, ARHGEF9, ARID1B, ARL13B, ARSA, ARSB, ARV1, ARX, ASAH1, ASPA, ASPM, ATIC, ATN1, ATP1A1, ATP1A2, ATP1A3, ATP2A2, ATP6AP2, ATP6V0A2, ATP6V1A, ATP7A, ATPAF2, ATR, ATRX, B4GALT1, BCKDHA, BCKDHB, BCS1L, BOLA3, BRAF, BRAT1, BSCL2, BTD, BUB1B, C12orf57, CACNA1A, CACNA1B, CACNA1D, CACNA1E, CACNA1G, CACNA1H, CACNB4, CAD, CASK, CASR, CBL, CC2D2A, CCL2, CDK5RAP2, CDKL5, CDON, CENPJ, CEP152, CEP290, CHD2, CHRNA2, CHRNA4, CHRNB2, CIC, CLCN2, CLCN4, CLN3, CLN5, CLN6, CLN8, CLTC, CNKSR2, CNNM2, CNPY3, CNTNAP2, COG1, COG7, COG8, COL18A1, COL4A1, COL4A2, COQ2, COQ4, COQ9, COX15, CPA6, CPT2, CREBBP, CSNK2B, CSTB, CTNNA2, CTSA, CTSD, CUL4B, CUX2, CYFIP2, CYP27A1, D2HGDH, DBT, DCX, DDX3X, DEAF1, DEGS1, DENND5A, DEPDC5, DHDDS, DHPS, DHX30, DIAPH1, DLD, DNM1, DNM1L, DOCK7, DOLK, DPAGT1, DPM1, DPM3, DPYD, DYNC1H1, DYRK1A, EARS2, EEF1A2, EFHC1, EFTUD2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, EML1, EMX2, EPG5, EPM2A, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, FAR1, FARS2, FBXL4, FBXO11, FGD1, FGF12, FGF8, FGFR3, FH, FKRP, FKTN, FLNA, FLVCR2, FOLR1, FOXG1, FRRS1L, FUCA1, FUT8, GABBR2, GABRA1, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GALC, GAMT, GATM, GBA, GCDH, GCH1, GCSH, GFAP, GFM1, GLB1, GLDC, GLI2, GLI3, GLRA1, GLRB, GLUD1, GLUL, GLYCTK, GM2A, GNAO1, GNAQ, GNB1, GNB5, GNPTG, GNS, GOSR2, GPAA1, GPC3, GPHN, GRIA3, GRIA4, GRIN1, GRIN2A, GRIN2B, GRIN2D, GSS, GTPBP2, GUSB, HACE1, HAX1, HCFC1, HCN1, HCN2, HCN4, HECW2, HEPACAM, HEXA, HEXB, HGSNAT, HLCS, HMGCL, HNRNPH2, HNRNPU, HPD, HRAS, HSD17B10, HSD17B4, HTRA2, IDH2, IDS, IDUA, IER3IP1, IFIH1, IKBKG, IQSEC2, IRF2BPL, ITPA, KARS, KAT6B, KATNB1, KCNA1, KCNA2, KCNB1, KCNC1, KCNJ1, KCNJ10, KCNJ11, KCNK4, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCNV2, KCTD3, KCTD7, KDM5C, KIAA1109, KIF1A, KIFBP, KIF2A, KIF5C, KMT2D, KMT2E, KRAS, L2HGDH, LAMA2, LBR, LGI1, LIAS, LRPPRC, MACF1, MAF, MAGI2, MAP2K1, MAP2K2, MAPK10, MBD5, MBOAT7, MCOLN1, MCPH1, MDH2, MECP2, MED12, MED17, MEF2C, MFF, MFSD8, MGAT2, MLC1, MMACHC, MMADHC, MOCS1, MOCS2, MOGS, MPDU1, MPI, MTHFR, MTOR, MTR, NACC1, NAGA, NAGLU, NARS2, NBEA, NDE1, NDUFA1, NDUFA10, NDUFA2, NDUFAF2, NDUFAF5, NDUFS1, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEU1, NEXMIF, NF1, NGLY1, NHLRC1, NIPBL, NOTCH3, NPC1, NPC2, NPHP1, NPRL2, NPRL3, NRAS, NRXN1, NSD1, NSDHL, NTRK2, NUS1, OCLN, OFD1, OPHN1, OTUD6B, P4HTM, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PAK3, PANK2, PARS2, PAX6, PC, PCCA, PCCB, PCDH12, PCDH19, PCNT, PDHA1, PDHX, PDSS1, PDSS2, PET100, PEX1, PEX10, PEX12, PEX13, PEX14, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PHACTR1, PHF6, PHGDH, PIGA, PIGB, PIGC, PIGG, PIGH, PIGN, PIGO, PIGQ, PIGT, PIGU, PIGV, PIGW, PIK3R2, PLA2G6, PLAA, PLCB1, PLP1, PLPBP, PMM2, PNKP, PNPO, POLG, POMGNT1, POMT1, POMT2, PPP2CA, PPP3CA, PPT1, PQBP1, PRICKLE1, PRICKLE2, PRMT7, PRODH, PRRT2, PSAP, PTCH1, PTPN11, PTPN23, PURA, QARS, QDPR, RAB11B, RAB18, RAB39B, RAB3GAP1, RAF1, RAI1, RALA, RARS2, RELN, RFT1, RHOBTB2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, ROGDI, RORA, RORB, RPGRIP1L, RTN4IP1, RTTN, SAMHD1, SCARB2, SCN10A, SCN1A, SCN1B, SCN2A, SCN2B, SCN3A, SCN3B, SCN4A, SCN4B, SCN5A, SCN8A, SCN9A, SCO1, SCO2, SDHA, SEPSECS, SERPINI1, SETBP1, SGSH, SHH, SHOC2, SIK1, SIX3, SLC12A5, SLC13A5, SLC16A2, SLC17A5, SLC1A2, SLC1A4, SLC25A1, SLC25A12, SLC25A15, SLC25A19, SLC25A22, SLC2A1, SLC35A1, SLC35A2, SLC35C1, SLC46A1, SLC6A1, SLC6A19, SLC6A5, SLC6A8, SLC9A6, SMARCA2, SMARCC2, SMC1A, SMC3, SMPD1, SMS, SNAP25, SNAP29, SNORD118, SOS1, SPATA5, SPRED1, SPTAN1, SRPX2, ST3GAL5, STAG1, STAMBP, STIL, STRADA, STX1B, STXBP1, SUCLA2, SUMF1, SUOX, SURF1, SYN1, SYNGAP1, SYNJ1, SYP, SZT2, TACO1, TANGO2, TBC1D24, TBCD, TBCK, TBL1XR1, TBX1, TCF4, TGIF1, TMEM216, TMEM67, TMEM70, TPP1, TRAK1, TREX1, TRIM8, TRPM6, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, UBA5, UBE2A, UBE3A, UFM1, UNC80, VAMP2, VARS, VPS11, VPS13A, VPS13B, WARS2, WASF1, WDR37, WDR45, WDR62, WDR73, WWOX, YWHAG, ZBTB18, ZDHHC9, ZEB2, ZIC2, ZNHIT3.
Solicite Ahora


Metodología

NGS


Requisitos de la Muestra


Descriptivo Volumen /
Concentració 1
Tipo de
tubo / soporte
Temperatura de
transporte
Viabilidad de la
muestra (días) 2
ADN ≥ 100 µL [50 ng/µL] Eppendorf Safe-lock Ambiente n/a
Sangre periférica ≥ 3 mL EDTA Ambiente 5
1 Cuando no es posible recoger el volumen mínimo para la prueba, por favor póngase en contacto con CGC Genetics
2 Tiempo máximo de envío para asegurar la calidad de la muestra

Tiempo de respuesta (día)

- 60

Especialidades

- Enfermedades raras, Neurología / Neuropediatría


Referencia CGC

- 5873




Pruebas Asociadas


Enfermedades del movimiento (panel NGS basado en WES de 929 genes, incluyendo análisis de CNVs)
Errores innatos del metabolismo (panel NGS basado en WES de 834 genes, incluyendo análisis de CNVs)
Encefalopatía epiléptica (panel NGS basado en WES de 137 genes, incluyendo análisis de CNVs)
Displasias esqueléticas (panel NGS basado en WES de 531 genes, incluyendo análisis de CNVs)
Displasias esqueléticas (panel NGS basado en WES de 530 genes, incluyendo análisis de CNVs)