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)