Epilepsias (incluye encefalopatías epilépticas)
Catálogo: Catálogo genética médica con informe
Referencia: LV4947
Especialidad: Neurología
Secuenciación masiva y cribado bioinformático de CNVs, panel de 522 genes: AARS1, ABAT, ABCA2, ABCD1, ACTL6B, ACY1, ADAM22, ADNP, ADPRS, ADSL, AFG2A, AFG3L2, AGA, AIFM1, AIMP1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALG11, ALG13, ALG6, ALKBH8, AMACR, AMT, ANKRD11, AP1S2, AP2M1, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, ARFGEF2, ARG1, ARHGEF9, ARID1B, ARSA, ARV1, ARX, ASAH1, ASNS, ASPA, ASPM, ASXL3, ATAD1, ATN1, ATP13A2, ATP1A1, ATP1A2, ATP1A3, ATP6AP2, ATP6V0A1, ATP6V1A, ATP7A, ATRX, AUH, BCKDHB, BCKDK, BCS1L, BRAF, BRAT1, BTD, C12orf57, CACNA1A, CACNA1B, CACNA1D, CACNA1E, CACNA1G, CACNA1H, CACNA2D1, CACNA2D2, CACNB4, CAD, CAMK2B, CARS2, CASK, CDK19, CDKL5, CELF2, CERS1, CERT1, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CILK1, CLCN4, CLN3, CLN5, CLN6, CLN8, CLTC, CNKSR2, CNPY3, CNTN2, CNTNAP2, COA8, COG6, COL4A1, COL4A2, COQ2, COQ4, COX15, COX6B1, CPA6, CPLX1, CPS1, CPT2, CSF1R, CSNK2B, CSTB, CTC1, CTSD, CTSF, CUL4B, CUX2, CYFIP2, D2HGDH, DALRD3, DCX, DDX3X, DEAF1, DEGS1, DENND5A, DEPDC5, DHDDS, DHFR, DHPS, DIAPH1, DLD, DLG3, DMXL2, DNAJC5, DNAJC6, DNM1, DNM1L, DOCK6, DOCK7, DOLK, DPAGT1, DPM1, DPM2, DPYD, DPYS, DYNC1H1, DYRK1A, EARS2, ECM1, EEF1A2, EFHC1, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF3F, EML1, EPM2A, EPRS1, ERMARD, ETFA, ETFB, ETFDH, ETHE1, FA2H, FAR1, FARS2, FBXO28, FDFT1, FGF12, FGF13, FH, FKTN, FLNA, FOLR1, FOXG1, FOXRED1, FRRS1L, FUCA1, FUT8, FZR1, GABBR2, GABRA1, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG2, GAD1, GALC, GAMT, GBA1, GCDH, GCH1, GCK, GCSH, GDI1, GFAP, GFM1, GFM2, GJC2, GK, GLB1, GLDC, GLRA1, GLS, GLUD1, GLUL, GLYCTK, GNAO1, GNB1, GNE, GOSR2, GOT2, GPAA1, GPHN, GRIA3, GRIA4, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, GTPBP3, GUF1, HACE1, HAX1, HCN1, HCN2, HCN4, HECW2, HEPACAM, HEXA, HIBCH, HID1, HNRNPU, HSD17B10, HSPD1, HTRA1, HTT, HYCC1, IBA57, IER3IP1, IFIH1, IL1RAPL1, IQSEC2, IRF2BPL, ITPA, KANSL1, KCNA1, KCNA2, KCNB1, KCNC1, KCNC2, KCND2, KCNH1, KCNJ1, KCNJ10, KCNJ11, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD7, KDM5C, KIF1A, KIF2A, KIF5A, KIF5C, KMT2E, L2HGDH, LGI1, LIAS, LMNB1, LNPK, LRPPRC, MACF1, MAST3, MBD5, MBOAT7, MBTPS2, MCCC2, MDH1, MDH2, MECP2, MED12, MED17, MEF2C, MFSD8, MIPEP, MLC1, MOCS1, MOCS2, MTFMT, MTHFR, MTOR, MYO5A, NACC1, NAPB, NBEA, NDST1, NDUFA1, NDUFA2, NDUFAF3, NDUFAF5, NDUFAF6, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NECAP1, NEDD4L, NEU1, NEUROD2, NEXMIF, NFU1, NHLRC1, NLGN3, NOTCH3, NPC1, NPRL2, NPRL3, NR2F1, NSDHL, NTRK2, NUBPL, NUS1, OCLN, OFD1, OPHN1, P4HTM, PACS1, PACS2, PAFAH1B1, PARS2, PCDH19, PDHA1, 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, PLAA, PLCB1, PLP1, PLPBP, PMM2, PNKP, PNPO, POLG, POLR3A, POLR3B, PPP2CA, PPP3CA, PPT1, PRICKLE1, PRODH, PRRT2, PRUNE1, PSAP, PSAT1, PTPN23, PTS, PUM1, PURA, PYCR2, QARS1, RAB11B, RAB27A, RAB39B, RALA, RANBP2, RARS1, RELN, RFT1, RHOBTB2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF13, ROGDI, RORA, RORB, RUSC2, SAMHD1, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SEMA6B, SERAC1, SERPINI1, SETBP1, SETD1B, SETD2, SGCE, SLC12A1, SLC12A5, SLC13A5, SLC19A3, SLC1A2, SLC1A4, SLC25A1, SLC25A12, SLC25A15, SLC25A22, SLC25A42, SLC2A1, SLC35A1, SLC35A2, SLC35A3, SLC38A3, SLC39A8, SLC46A1, SLC6A1, SLC6A8, SLC7A6OS, SLC9A6, SMARCA2, SMC1A, SMS, SNIP1, 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, TUBA1A, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TWNK, UBA5, UBE2A, UBE3A, UBTF, UFSP2, UGDH, UGP2, UNC80, VAMP2, VARS2, VPS13A, WARS2, WASF1, WDR26, WDR45, WWOX, YWHAG, ZDHHC9, ZEB2, ZNHIT3, ZSWIM6 y análisis del genoma mitocondrial
