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Генетическая лаборатория
Анализы

Клинический экзом. Панель “Наследственные эпилепсии”

Молекулярно-генетическое исследование кодирующих участков  генов, связанных с развитием  наследственных эпилепсии
Код:
MP-1711
Cроки анализа:
30-45 рабочих дней

42000 

О направлении

Биоматериал: венозная кровь, буккальный эпителий

Информация для врачей

Секвенирование со средней кратностью покрытия от 70х и верификацией по Сэнгеру. Исследуемые гены: AARS, ABCC8, ABCD1, ACADM, ACADS, ACTB, ACTG1, ACY1, ADAR, ADCK3, ADGRG1, ADGRV1, ADNP, ADSL, AFG3L2, AGA, AHI1, AIMP1, AKT3, ALDH4A1, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, AMACR, AMT, ANK3, AP1S2, APOC3, APOPT1, APTX, ARFGEF2, ARG1, ARHGEF9, ARL13B, ARSA, ARSB, ARX, ASAH1, ASL, ASPA, ASPM, ASS1, ATIC, ATN1, ATP1A2, ATP1A3, ATP2A2, ATP5A1, ATP6AP2, ATP7A, ATR, ATRX, B3GALNT2, B4GALT1, B4GAT1, BCKDHA, BCKDHB, BCS1L, BRAF, BRAT1, BTD, BUB1B, C12orf57, C5orf42, CACNA1A, CACNA1H, CACNB4, CASC5, CASK, CASR, CC2D2A, CCDC88C, CCND2, CDK5RAP2, CDK6, CDKL5, CDON, CENPE, CENPJ, CEP135, CEP152, CEP164, CEP290, CEP41, CEP63, CERS1, CHD2, CHMP1A, CHRNA2, CHRNA4, CHRNB2, CLCN2, CLIC2, CLN3, CLN5, CLN6, CLN8, CNTN2, CNTNAP2, COA5, COG1, COG4, COG5, COG6, COG7, COG8, COL18A1, COL4A1, COL4A2, COQ2, COQ4, COQ6, COQ9, COX10, COX14, COX15, COX20, COX6B1, CPA6, CPS1, CPT1A, CPT2, CREBBP, CSPP1, CSTB, CTSA, CTSD, CTSF, CUL4B, DARS, DBT, DCHS1, DCX, DDOST, DEPDC5, DGUOK, DHCR24, DHCR7, DLD, DLG3, DNA2, DNAJC5, DNM1, DOCK7, DOCK8, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DYNC1H1, DYRK1A, EARS2, EEF1A2, EFHC1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EMX2, EPM2A, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EZH2, FA2H, FAM126A, FASTKD2, FAT4, FGD1, FGFR3, FH, FIG4, FKRP, FKTN, FLNA, FOLR1, FOXG1, FOXRED1, FUCA1, GABRA1, GABRB3, GABRD, GABRG2, GALC, GALNS, GAMT, GATM, GCDH, GCH1, GCK, GCSH, GFAP, GFM1, GJC2, GLB1, GLDC, GLI2, GLI3, GLRA1, GLRB, GMPPB, GNAO1, GNE, GNPTAB, GNPTG, GNS, GOSR2, GPC3, GPHN, GRIA3, GRIN1, GRIN2A, GRIN2B, GRN, GUSB, HADH, HCFC1, HCN1, HDAC8, HEPACAM, HERC2, HEXA, HEXB, HGSNAT, HPD, HSD17B10, HSPD1, HYAL1, IDS, IDUA, IER3IP1, IFIH1, IL1RAPL1, INPP5E, INS, IQSEC2, ISPD, IVD, KCNA1, KCNA2, KCNB1, KCNJ1, KCNJ10, KCNJ11, KCNK18, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM5C, KDM6A, KIAA2022, KIF2A, KIF4A, KIF5C, KIF7, KIRREL3, KMT2D, KPTN, KRIT1, L2HGDH, LAMA2, LAMB1, LAMC3, LARGE, LGI1, MAN1B1, MAP2K1, MAP2K2, MBD5, MCOLN1, MCPH1, MECP2, MED12, MED17, MEF2C, METTL23, MFSD2A, MFSD8, MGAT2, MID2, MLC1, MMAA, MMACHC, MOCS1, MOCS2, MOGS, MPDU1, MPI, MTHFR, MUT, NAGLU, NAGS, NDE1, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECAP1, NEU1, NF1, NFIX, NGLY1, NHLRC1, NIN, NIPBL, NOL3, NOTCH3, NPC1, NPC2, NPHP1, NRAS, NRXN1, NSD1, NSUN2, NUBPL, OCLN, OCRL, OFD1, OPHN1, OTC, PACS1, PAFAH1B1, PAH, PAK3, PANK2, PC, PCBD1, PCCA, PCCB, PCDH19, PCNT, PDE6D, PDHA1, PDHX, PDP1, PDSS1, PDSS2, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGK1, PGM1, PHC1, PHF6, PIGA, PIGN, PIGO, PIGT, PIGV, PIK3CA, PIK3R2, PLA2G6, PLCB1, PLP1, PMM2, PNKP, PNPO, POLG, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPM1K, PPT1, PQBP1, PRICKLE1, PRODH, PRPS1, PRRT2, PSAP, PTCH1, PTEN, PTS, PURA, QDPR, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAD21, RAI1, RARS2, RBBP8, RBFOX3, RELN, RFT1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, ROGDI, RPGRIP1L, RPS6KA3, RRM2B, RTTN, SAMHD1, SASS6, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SDHA, SDHAF1, SEPSECS, SERPINI1, SETBP1, SGCE, SGSH, SHH, SIK1, SIX3, SLC13A5, SLC17A5, SLC19A3, SLC1A3, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC2A1, SLC33A1, SLC35A1, SLC35A2, SLC35C1, SLC46A1, SLC6A5, SLC6A8, SLC9A6, SMARCA2, SMARCB1, SMC1A, SMC3, SMPD1, SMS, SNAP29, SOX10, SPTAN1, SRD5A3, SRPX2, SSR4, ST3GAL3, ST3GAL5, STAMBP, STIL, STT3A, STT3B, STX1B, STXBP1, SUCLA2, SUMF1, SUOX, SURF1, SYN1, SYNGAP1, SYP, SZT2, TACO1, TBC1D24, TBCE, TBP, TBX1, TCF4, TCTN1, TCTN2, TCTN3, TGIF1, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM5, TMEM67, TMEM70, TPP1, TRAPPC9, TREX1, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSFM, TTC21B, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUSC3, UBE2A, UBE3A, UQCC2, VLDLR, VPS13A, VPS13B, VRK1, WDR45, WDR62, WFS1, WWOX, ZEB2, ZIC2, ZNF335, ZNF423

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