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Генетическая лаборатория
Анализы

Клинический экзом. Панель “Нейродегенеративные заболевания”

Молекулярно-генетическое исследование кодирующих участков генов, связанных с нейродегенеративными заболеваниями

Код:
MP-1723
Cроки анализа:
90 рабочих дней

40000 

О направлении

Биоматериал: венозная кровь, буккальный эпителий

Информация для врачей

Секвенирование со средней кратностью покрытия от 70х без верификации по Сэнгеру. Исследуемые гены: AARS, AARS2, ABCB7, ABCD1, ABHD12, ACAD9, ACADM, ACADS, ACADVL, ACO2, ACTB, ACTG1, ADAMTSL2, ADAR, ADCK3, ADCY5, ADGRG1, AFG3L2, AGA, AGK, AHI1, AIFM1, AIMP1, AIRE, AKT3, ALAS2, ALDH18A1, ALDH3A2, ALG1, ALG11, ALG12, ALG3, ALG6, ALG8, ALS2, AMACR, AMPD1, AMPD2, ANG, ANO10, ANO3, ANTXR2, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APOE, APP, APTX, ARFGEF2, ARG1, ARL13B, ARL6IP1, ARSA, ARSB, ARX, ASAH1, ASCL1, ASPA, ASPM, ATCAY, ATL1, ATM, ATN1, ATP13A2, ATP1A3, ATP5E, ATP6AP2, ATP7A, ATP7B, ATP8A2, ATPAF2, ATR, ATRX, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, AUH, B3GALNT2, B4GALNT1, B4GAT1, B9D1, B9D2, BCAP31, BCS1L, BDNF, BEAN1, BEST1, BICD2, BOLA3, BRAF, BSCL2, BTD, BUB1B, C10orf2, C12orf65, C19orf12, C5orf42, C9orf72, CA2, CA8, CACNA1A, CACNA1B, CACNB4, CASC5, CASK, CC2D2A, CCDC88C, CCM2, CCT5, CDK5RAP2, CDON, CENPJ, CEP135, CEP152, CEP290, CEP41, CEP63, CHCHD10, CHKB, CHMP1A, CHMP2B, CISD2, CLCN2, CLN3, CLN5, CLN6, CLN8, COA5, COASY, COL11A2, COL18A1, COL2A1, COL4A1, COL6A3, COMT, COQ2, COQ6, COQ9, COX10, COX14, COX15, COX20, COX4I2, COX6B1, CP, CPT1A, CPT1C, CPT2, CRAT, CSF1R, CSPP1, CSTB, CTNS, CTSA, CTSC, CTSD, CTSF, CTSK, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DARS, DARS2, DCAF17, DCHS1, DCTN1, DCX, DDB2, DDHD1, DDHD2, DGUOK, DHCR24, DHCR7, DLAT, DLD, DNAJB2, DNAJC19, DNAJC5, DNAJC6, DNM1L, DNMT1, DPAGT1, DYM, DYNC1H1, DYRK1A, EARS2, ECE1, EDN3, EEF2, EFTUD2, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF4G1, ELOVL4, ELOVL5, EMX2, ENTPD1, EPM2A, ERBB4, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERLIN2, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EZH2, FA2H, FAM126A, FAM134B, FARS2, FASTKD2, FAT4, FBXO38, FBXO7, FGF14, FGF8, FGFR3, FH, FIG4, FKRP, FKTN, FLNA, FLVCR1, FOLR1, FOXRED1, FTL, FUCA1, FUS, FXN, GAA, GAD1, GALC, GALNS, GAN, GARS, GATA3, GBA, GBA2, GBE1, GCDH, GCH1, GCLC, GDAP1, GDNF, GFAP, GFER, GFM1, GJB1, GJC2, GLA, GLB1, GLI2, GLI3, GM2A, GMPPB, GNAL, GNAQ, GNE, GNPTAB, GNPTG, GNS, GOSR2, GPC3, GRID2, GRN, GUSB, HADH, HARS2, HEPACAM, HEXA, HEXB, HGSNAT, HNRNPA1, HNRNPA2B1, HPRT1, HRAS, HSD17B4, HSPB1, HSPB3, HSPB8, HSPD1, HTRA1, HTRA2, HTT, HYAL1, IBA57, IDS, IDUA, IER3IP1, IFIH1, IGHMBP2, INPP5E, ISCU, ISPD, ITM2B, ITPR1, JPH3, KANK1, KARS, KCNA1, KCNC3, KCND3, KCNJ10, KCNMA1, KCTD17, KCTD7, KIAA0196, KIF11, KIF1A, KIF1C, KIF2A, KIF5A, KIF5C, KIF7, KMT2D, KRIT1, L1CAM, L2HGDH, LAMA2, LAMC3, LAMP2, LARGE, LIAS, LIPA, LMNB1, LRPPRC, LRRK2, LYST, MAG, MAN2B1, MANBA, MAPT, MARS, MARS2, MATR3, MBD5, MCOLN1, MCPH1, MECP2, MED12, MED17, MEF2C, MFN2, MFSD8, MGAT2, MGME1, MKS1, MLC1, MPI, MPV17, MRE11A, MRPS16, MRPS22, MSMO1, MTFMT, MTHFR, MTO1, MTPAP, MTTP, NAGA, NAGLU, NDE1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEFH, NEU1, NFIX, NFU1, NHEJ1, NHLRC1, NIN, NIPA1, NKX2-1, NOP56, NOTCH3, NPC1, NPC2, NPHP1, NPHP3, NSD1, NT5C2, NUBPL, OCLN, OFD1, OPA1, OPA3, OPHN1, OPTN, PAFAH1B1, PANK2, PARK2, PARK7, PAX6, PC, PCNT, PDCD10, PDGFB, PDGFRB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDYN, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFN1, PGAP1, PHOX2A, PHOX2B, PHYH, PIGA, PIGN, PIK3CA, PIK3R2, PIK3R5, PINK1, PLA2G6, PLEKHG5, PLP1, PMM2, PNKD, PNKP, PNPLA6, PNPT1, POLG, POLG2, POLH, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPP2R2B, PPT1, PQBP1, PRICKLE1, PRKCG, PRKRA, PRNP, PRPH, PRPH2, PRRT2, PSAP, PSEN1, PSEN2, PTCH1, PTEN, PTPN11, PUS1, QDPR, RAB18, RAB3GAP1, RAB3GAP2, RAF1, RAI1, RARS2, RBBP8, REEP1, REEP2, RELN, RET, RFT1, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RPGRIP1L, RRM2B, RTN2, RTTN, SACS, SAMHD1, SARS2, SCARB2, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SEPSECS, SERAC1, SETX, SGCE, SGSH, SHH, SIGMAR1, SIL1, SIX3, SLC16A2, SLC17A5, SLC19A2, SLC19A3, SLC1A3, SLC20A2, SLC22A5, SLC25A12, SLC25A15, SLC25A19, SLC25A20, SLC25A3, SLC25A38, SLC25A4, SLC2A1, SLC30A10, SLC33A1, SLC5A2, SLC5A7, SLC6A3, SLC6A8, SMPD1, SNAP29, SNCA, SOD1, SORL1, SOX10, SPAST, SPG11, SPG20, SPG21, SPG7, ALDH18A1, SPR, SPTBN2, SQSTM1, SRD5A3, SRPX2, STAMBP, STIL, STUB1, SUCLA2, SUCLG1, SUMF1, SURF1, SYNE1, SYNJ1, SYT14, TACO1, TAF1, TARDBP, TAZ, TBC1D20, TBP, TCF4, TCTN1, TCTN2, TDP1, TECPR2, TFG, TGIF1, TGM6, TH, THAP1, TIMM8A, TK2, TMEM126A, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM5, TMEM67, TMEM70, TOR1A, TPK1, TPP1, TREM2, TREX1, TRMU, TRPV4, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSFM, TTBK2, TTC19, TTC21B, TTPA, TUBA1A, TUBA8, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP6, TUFM, TUSC3, TYMP, TYROBP, UBA1, UBE3A, UBQLN2, UQCRB, UQCRC2, UQCRQ, VAMP1, VAPB, VCP, VEGFA, VLDLR, VPS13A, VPS13B, VPS35, VPS37A, VRK1, WDR45, WDR62, WFS1, WWOX, XK, XPA, XPC, XPNPEP3, YARS2, ZEB2, ZFYVE26, ZFYVE27, ZIC2, ZNF335, ZNF423

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