Broj gena
783
TAT (radni dani)
25
Metoda
NGS uključujući analizu CNV-a, analizu ekspanzije ponavljanja i analizu mtDNA.
Uzorak
Puna krv
Opis
Dok se neki tipovi napada lako kategorizuju (npr. parcijalni ili generalizovani), drugi to nisu ili se kasnije mogu razviti u različite tipove – npr. parcijalni napadi sa sekundarnom generalizacijom – što smanjuje vjerovatnoću da ciljano testiranje panela uspije u postavljanju dijagnoze. Panel za epilepsiju je usmjeren prema fenotipu i obuhvata različite tipove epileptičkih sindroma, uključujući Dravetov sindrom, ranu infantilnu epileptičku encefalopatiju, parcijalnu epilepsiju, generalizovanu epilepsiju, absencijsku epilepsiju, panel za miokloničku epilepsiju i hipomagnezemiju. Pored toga, panel uključuje mitohondrijske i nuklearne mitohondrijske gene (npr. gene koji uzrokuju miokloničku epilepsiju sa „ragged red fibers“ – MERRF).
Geni
AARS1, AARS2, ABAT, ABCC8, ABCD1, ABCD3, ACAD9, ACADM, ACADS, ACADVL, ACOX1, ACTL6B, ACY1, ADA, ADAM22, ADAMTS10, ADAMTSL2, ADAR, ADGRG1, ADSL, AFF3, AFG2A, AFG3L2, AGA, AGK, AGPS, AIFM1, AIMP1, AIMP2, ALDH3A2, ALDH5A1, ALDH7A1, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALPL, AMPD2, AMT, ANK3, ANTXR2, AP2M1, AP3B1, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, APP, APTX, ARG1, ARHGAP31, ARHGEF9, ARSA, ARSB, ARV1, ARX, ASAH1, ASL, ASNS, ASPA, ASS1, ASXL1, ATM, ATP13A2, ATP1A2, ATP6AP1, ATP6V0A2, ATP6V1A, ATP7A, ATP7B, ATPAF2, ATRX, AUH, B3GALNT2, B3GLCT, B4GALT1, BCAP31, BCKDHA, BCKDHB, BCS1L, BEST1, BLTP1, BOLA3, BRAT1, BTD, C12orf57, C19orf12, CA5A, CACNA1A, CACNA1E, CACNA1H, CACNA2D2, CACNB4, CARS2, CASK, CAV1, CBS, CCDC88A, CDKL5, CERS1, CHD2, CHMP2B, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CIC, CLCN2, CLCN4, CLDN16, CLDN19, CLN3, CLN5, CLN6, CLN8, CLP1, CLPP, CLTC, CNNM2, CNPY3, CNTNAP1, CNTNAP2, COA7, COA8, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL11A2, COL2A1, COL4A1, COL4A2, COLGALT1, COQ2, COQ8A, COQ9, COX10, COX15, COX20, COX6B1, CP, CPA6, CPLX1, CPS1, CPT1A, CPT2, CSF1R, CSNK2B, CSTB, CTC1, CTNNA2, CTNS, CTSA, CTSC, CTSD, CTSF, CTSK, CYFIP2, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DAG1, DARS1, DARS2, DBT, DCAF17, DCX, DEAF1, DEGS1, DENND5A, DEPDC5, DGUOK, DHCR7, DHDDS, DHFR, DHX30, DIAPH1, DKC1, DLAT, DLD, DLL3, DNAJC5, DNM1, DNM1L, DOCK6, DOCK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DPYS, DYM, DYRK1A, EARS2, ECHS1, EEF1A2, EFHC1, EGF, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF3F, EMC10, EML1, EPG5, EPM2A, EPRS1, ERCC6, ERCC8, ETFA, ETFB, ETFDH, ETHE1, F2, F5, FA2H, FAH, FARS2, FARSB, FASTKD2, FBXL4, FDX2, FGF12, FH, FHL1, FIG4, FKRP, FLVCR2, FOLR1, FOXG1, FOXRED1, FRRS1L, FTL, FUCA1, FUT8, FXYD2, GAA, GABBR2, GABRA1, GABRA2, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAD1, GALC, GALNS, GALT, GAMT, GAN, GBA1, GBE1, GCDH, GCH1, GFAP, GFER, GFM1, GFM2, GFPT1, GJA1, GJB1, GJC2, GLA, GLB1, GLDC, GLUD1, GLUL, GM2A, GMPPA, GNAO1, GNAQ, GNB5, GNE, GNPAT, GNPTAB, GNPTG, GNS, GOSR2, GOT2, GPAA1, GPC3, GRIA2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, GTPBP2, GTPBP3, GUF1, GUSB, HACE1, HADHA, HADHB, HCFC1, HCN1, HEPACAM, HEXA, HEXB, HGSNAT, HIBCH, HIKESHI, HLCS, HMGCL, HMGCS2, HNRNPR, HNRNPU, HRAS, HSD17B4, HSPD1, HTRA1, HYCC1, IARS2, IBA57, IDS, IDUA, IER3IP1, IFIH1, IQSEC2, ISCA2, ITPA, IVD, JAG1, JAM3, KAT8, KCNA1, KCNA2, KCNB1, KCNC1, KCNH1, KCNJ10, KCNK4, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCNT2, KCTD3, KCTD7, KIF2A, KIF5A, KMT2E, L2HGDH, LAMA2, LAMB1, LAMP2, LARGE1, LAT, LDB3, LGI1, LIAS, LIPA, LIPT1, LMNB1, LRPPRC, LYRM7, LYST, MAF, MAGT1, MAN1B1, MAN2B1, MANBA, MAP2K1, MAP2K2, MARS2, MBD5, MCCC1, MCCC2, MCOLN1, MDH2, MECP2, MECR, MED17, MEF2C, MFF, MFN2, MFSD8, MGAT2, MGME1, MLC1, MLPH, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCS1, MOCS2, MOGS, MPDU1, MPI, MPV17, MRPS22, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MTFMT, MTHFR, MTHFS, MTOR, MTR, MTRFR, MYO5A, MYOT, NAGA, NAGLU, NAGS, NARS2, NAXD, NAXE, NBAS, NDE1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECAP1, NEDD4L, NEU1, NEUROD2, NEXMIF, NF1, NFE2L2, NFU1, NGLY1, NHLRC1, NOTCH1, NOTCH3, NPC1, NPC2, NPR2, NPRL2, NPRL3, NRXN1, NSD2, NUBPL, NUS1, OAT, OCLN, OCRL, OPA1, OPA3, OSGEP, OTC, OTUD6B, P4HTM, PACS2, PAFAH1B1, PAH, PAK1, PANK2, PARS2, PC, PCCA, PCCB, PCDH12, PCDH19, PCYT2, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDYN, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGK1, PGM1, PHACTR1, PHGDH, PHYH, PIGA, PIGB, PIGH, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PLA2G6, PLAA, PLCB1, PLCG2, PLEKHG2, PLK1, PLP1, PMM2, PMP22, PMPCB, PNKP, PNPO, PNPT1, POLG, POLG2, POLR1C, POLR3A, POLR3B, POMK, POMT1, PPP2CA, PPP2R1A, PPP3CA, PPT1, PRF1, PRICKLE1, PRICKLE2, PRMT7, PRODH, PRPS1, PRRT2, PSAP, PSEN1, PTEN, PTPN23, PTS, PUM1, PURA, PYCR2, QARS1, QDPR, RAB11A, RAB11B, RAB27A, RAI1, RALA, RALGAPA1, RARS1, RARS2, RELN, RFT1, RHOBTB2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF13, RNF216, ROGDI, RORA, RORB, RPIA, RRM2B, RTN4IP1, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SCO1, SCO2, SDHA, SDHAF1, SDHB, SDHD, SEC23B, SELENOI, SEMA6B, SEPSECS, SERAC1, SERPINI1, SETD1A, SGCE, SGSH, SIK1, SLC12A3, SLC12A5, SLC13A3, SLC13A5, SLC16A2, SLC17A5, SLC19A3, SLC1A2, SLC1A4, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC2A1, SLC33A1, SLC35A1, SLC35A2, SLC35C1, SLC39A8, SLC6A1, SLC6A8, SLC7A7, SLC9A6, SMC1A, SMPD1, SNIP1, SNTA1, SNX27, SON, SOX10, SPART, SPG11, SPG7, SPTAN1, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STAMBP, STAT1, STT3A, STX1B, STXBP1, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, SYN1, SYNE1, SYNGAP1, SYNJ1, SZT2, TACO1, TBC1D24, TBCD, TBCE, TBCK, TCF4, TDP2, TGFB1, TIMM50, TIMM8A, TINF2, TK2, TMEM106B, TMEM126A, TMEM165, TMEM70, TMX2, TNK2, TPK1, TPP1, TRAK1, TRAPPC4, TRAPPC9, TREM2, TREX1, TRIM8, TRPM6, TRPV4, TSC1, TSC2, TSEN54, TSFM, TTC19, TUBA1A, TUBB2A, TUBB2B, TUBB4A, TUBG1, TUFM, TUSC3, TWNK, TYMP, TYROBP, UBE2A, UBE3A, UFM1, UGP2, UMPS, UPB1, UQCRQ, VAMP2, VARS1, VARS2, VCP, VMA12, VMA22, VPS11, WARS2, WASF1, WDR37, WDR45, WDR45B, WDR73, WFS1, WWOX, YWHAG, ZEB2, ZFYVE26, ZNF142, ZNF335