Kardiomiopátia - teljes panel (202 gén)

ABCC6, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGL, ALMS1, ALPK3, ANK2, ANKRD1, APOA1, ATAD3A, ATP5E, BAG3, BRAF, CACNA1C, CALR3, CASQ2, CASZ1, CAV3, CAVIN4, CBL, CDH2, CHKB, CHRM2, COA5, COX15, CPT2, CRYAB, CTNNA3, CSRP3, DES, DMD, DNAJC19, DOLK, DPM3, DSC2, DSG2, DSP, DTNA, DYSF, EEF1A2, ELAC2, EMD, EPG5, ETFA, ETFB, ETFDH, EYA, FBXL4, FBXO32, FHL1, FHOD3, FKRP, FKTN, FLII, FLNC, FOXD4, FOXRED1, FXN, GAA, GATA4, GATA6, GATAD1, GATC, GBE1, GLA, GLB1, GSK3B, GUSB, GYG1, HAND1, HCN4, HRAS, ILK, JPH2, JUP, KCNQ1, KLF10, KLHL24, KRAS, LAMP2, LDB3, LEMD2, LMNA, LMOD2, LRRC10, LZTR1, MAP2K1, MAP2K2, MIB1, MIPEP, MLYCD, MRPL3, 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, MTO1, 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, MYBPC3, MYBPHL, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK2, MYLK3, MYO6, MYOM1, MYOZ2, MYPN, NDUFAF2, NEXN, NKX2-5, NRAP, NRAS, PCCA, PCCB, PDLIM3, PKP2, PLEKHM2, PLN, PPCS, PRDM16, PRKAG2, PTPN11, QRSL1, RAF1, RBCK1, RBM20, RHBDF1, RIT1, RMND1, RPL3L, RYR2, SCN5A, SCO2, SDHA, SGCD, SHOC2, SLC22A5, SLC25A3, SLC25A4, SLC6A6, SOS1, SPEG, TAB2, TAZ, TBX20, TBX5, TCAP, TGFB3, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TPM1, TRIM63, TSFM, TTN, TTR, VCL, VPS13A

Teljes Exom szekvenálás

A teljes humán exom, az összes fehérjekódoló gén.

Epilepszia (576 gén)

AARS1, ABAT, ACOX1, ACTL6B, ACY1, ADAR, ADARB1, ADGRG1, ADPRS, ADSL, AFF3, AFG3L2, AIMP1, AKT3, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG13, ALG14, ALG3, ALG6, ALG8, ALG9, ALKBH8, ALPL, AMPD2, AMT, ANKRD11, AP1G1, AP2M1, AP3B2, APC2, ARF1, ARFGEF1, ARFGEF2, ARG1, ARHGEF9, ARID1B, ARV1, ARX, ASAH1, ASH1L, ASNS, ASPA, ATN1, ATP13A2, ATP1A1, ATP1A2, ATP1A3, ATP6AP2, ATP6V0A1, ATP6V0A2, ATP6V1A, ATP7A, ATRX, BCKDHA, BCKDHB, BCKDK, BCS1L, BLTP1, BOLA3, BRAF, BRAT1, BSCL2, BTD, C12orf57, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1G, CACNA1I, CACNA2D2, CACNB4, CAD, CARS2, CASK, CC2D2A, CDK19, CDKL5, CELF2, CEP85L, CERS1, CHD2, CHD5, CHKA, CHRNA2, CHRNA4, CHRNB2, CIC, CLCN3, CLCN4, CLN3, CLN5, CLN6, CLN8, CLPB, CLTC, CNKSR2, CNNM2, CNPY3, CNTNAP2, COG7, COG8, COL18A1, COL4A1, COL4A2, COQ2, COQ4, COQ9, CPA6, CPT2, CREBBP, CRH, CTNNA2, CTSD, CTSF, CUL3, CUL4B, CUX2, CYFIP2, CSNK2B, CSTB, D2HGDH, DBT, DCX, DDC, DDX3X, DEAF1, DEGS1, DENND5A, DEPDC5, DHDDS, DHPS, DHX30, DIAPH1, DLL1, DMXL2, DNAJC5, DNM1, DNM1L, DOCK7, DPAGT1, DPM1, DPYD, DROSHA, DTYMK, DYNC1H1, DYRK1A, EARS2, EEF1A2, EFTUD2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, EMC10, EML1, EPG5, EPM2A, ETHE1, EXOSC3, FARS2, FASTKD2, FBXL4, FBXO11, FBXO28, FGD1, FGF12, FGF13, FGFR3, FH, FKRP, FKTN, FLNA, FOLR1, FOXG1, FRRS1L, FUCA1, FUT8, GABBR2, GABRA1, GABRA2, GABRA5, GABRB2, GABRB3, GABRD, GABRG2, GAD1, GALC, GALNT2, GAMT, GATM, GBA, GCK, GFAP, GFM1, GLB1, GLDC, GLRA2, GLUD1, GLUL, GM2A, GNAO1, GNAQ, GNB1, GNB5, GOSR2, GOT2, GPAA1, GPC3, GPHN, GRIA3, GRIA4, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, GTPBP2, H3-3A, H3-3B, HACE1, HAX1, HCFC1, HCN1, HCN2, HECW2, HEPACAM, HERC2, HEXA, HEXB, HID1, HMGCL, HNRNPH2, HNRNPR, HNRNPU, HPDL, HRAS, HSD17B10, HSD17B4, HTRA2, IBA57, IER3IP1, IFIH1, IKBKG, IQSEC2, IRF2BPL, ITPA, KANSL1, KARS1, KAT5, KAT8, KCNA2, KCNB1, KCNC1, KCNC2, KCND2, KCNH1, KCNH5, KCNJ10, KCNJ11, KCNK4, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD3, KCTD7, KDM5C, KIF1A, KIF2A, KIF5C, KMT2E, KRAS1, LAMA2, LARGE1, LARS1, LGI1, LIAS, LMBRD2, MACF1, MADD, MAF, MAGI2, MAP2K1, MAP2K2, MBD5, MBOAT7, MDH2, MECP2, MED12, MED27, MEF2C, MFF, MFSD8, MINPP1, MLC1, MMACHC, MMADHC, MOCS1, MOCS2, MOGS, MPDU1, MRPL12, MTHFR, MTHFS, MTOR, NACC1, NAGA, NAPB, NARS, NARS2, NBEA, NDE1, NDUFA1, NDUFA10, NDUFAF2, NDUFAF5, NDUFS4, NDUFS8, NDUFV1, NECAP1, NEU1, NEUROD2, NEXMIF, NGLY1, NHLRC1, NOTCH3, NPRL2, NPRL3, NR2F1, NR4A2, NRROS, NRXN1, NSD1, NSDHL, NSRP1, NTRK2, NUS1, OCLN, OFD1, OGDHL, OPHN1, OTUD6B, OXR1, P4HTM, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PAK3, PARS2, PCCA, PCCB, PCDH12, PCDH19, PCDHGC4, PCYT2, PDHA1, PDHX, PDSS2, PET100, PEX7, PGM2L1, PHACTR1, PHF6, PHGDH, PIDD1, PIGA, PIGB, PIGC, PIGG, PIGH, PIGK, PIGN, PIGO, PIGP, PIGQ, PIGT, PIGU, PIGV, PIGW, PIK3R2, PLAA, PLCB1, PLP1, PLPBP, PMM2, PMPCB, PNKP, PNPO, PNPT1, POLG, POMGNT1, POMT1, POMT2, PPIL1, PPP2CA, PPP3CA, PPT1, PQBP1, PRICKLE1, PRMT7, PRPF8, PRRT2, PSAP, PTEN, PTPN23, PTS, PUM1, PURA, qars1, RAB11B, RAB18, RAB39B, RAB3GAP1, RALA, RALGAPA1, RARS1, RARS2, RELN, RFT1, RHOBTB2, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF13, ROGDI, RORA, RORB, RTN4IP1, RTTN, SAMHD1, SATB1, SCAF4, SCAMP5, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SEMA6B, SEPSECS, SERPINI1, SETBP1, SETD1A, SETD1B, SETD5, SGSH, SIK1, SLC12A5, SLC13A5, SLC16A2, SLC19A3, SLC1A2, SLC1A4, SLC25A1, SLC25A12, SLC25A22, SLC2A1, SLC35A2, SLC38A3, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCC2, SMC1A, SMS, SNAP25, SNAP29, SNIP1, SNORD118, SPATA5, SPATA5L1, SPR, SPTAN1, SPTBN1, SRPX2, ST3GAL3, ST3GAL5, STAG1, STAMBP, STRADA, STX1B, STXBP1, SUCLA2, SUOX, SURF1, SYN1, SYNGAP1, SYNJ1, SYP, SZT2, TAF8, TANGO2, TBC1D24, TBC1D2B, TBCD, TBCK, TBL1XR1, TCF4, TDP2, TFE3, TIAM1, TIMM50, TMEM222, TMX2, TNPO2, TPP1, TRAK1, TRAPPC12, TRAPPC4, TREX1, TRIM8, TRPM3, TRPM6, TSC1, TSC2, TSEN54, TUBA1A, TUBA8, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP2, TWNK, UBA5, UBE2A, UBE3A, UBR7, UFM1, UFSP2, UGDH, UGP2, UNC80, USP18, VAMP2, VARS1, VARS2, VLDLR, VPS11, WARS2, WASF1, WDR37, WDR45, WDR45B, WDR62, WDR73, WNK3, WWOX, YIPF5, YWHAG, ZBTB18, ZDHHC9, ZEB2, ZNF142, ZNF335