Большая неврологическая панель

Большая неврологическая панель включает в себя более 2000 генов, ассоциированных с неврологическими заболеваниями. Платформа включает в себя все гены, входящие в панели наследственные эпилепсии, задержка развития и расстройства аутистического спектра, нейродегенеративные заболевания, наследственные болезни обмена веществ, нервно-мышечные заболевания, панель "Общая неврология" (моногенные непрогрессирующие болезни: ДЦП, мигрень, инсульты и др), что позволяет ускорить поиск причины заболевания. Также в платформу включены гены, рекомендуемые американской коллегией медицинских генетиков: наследственный рак, аритмии, туберозный склероз и др.

Гены, исследуемые в панели

AARS2; ABCB7; ABCC6; ABCD1; ABCG5; ABHD5; ACAD8; ACAD9; ACADM; ACADS; ACADSB; ACADVL; ACAT1; ACO2; ACOX1; ACSL4; ACY1; ADAR; ADAT3; ADCK3; ADCK4; ADGRV1; ADNP; ADSL; AFF2; AFG3L2; AGK; AGL; AGT; AGTR2; AHDC1; AHI1; AIFM1; AIPL1; AKT3; ALDH18A1; ALDH4A1; ALDH5A1; ALDH6A1; ALG11; ALG12; ALG6; ALMS1; ALX4; AMACR; AMER1; AMPD1; AMT; ANK3; ANKLE2; ANKRD11; ANO10; AP1S1; AP1S2; AP3B1; AP4B1; AP4E1; AP4M1; AP4S1; APOPT1; APTX; AR; ARFGEF2; ARG1; ARHGEF6; ARHGEF9; ARID1A; ARID1B; ARL13B; ARL6; ARX; ASPM; ASS1; ATAD3A; ATL1; ATP10A; ATP13A2; ATP1A2; ATP2A2; ATP5A1; ATP5E; ATP6AP2; ATP7A; ATP7B; ATPAF2; ATR; ATRIP; ATRX; ATXN10; AUH; AUTS2; AVP; AVPR1A; AVPR2; B9D1; B9D2; BBS1; BBS10; BBS12; BBS2; BBS4; BBS5; BBS7; BBS9; BCAT2; BCKDHA; BCKDHB; BCKDK; BCOR; BCS1L; BDNF; BIN1; BLM; BOLA3; BRAF; BRIP1; BRWD3; BTD; BUB1B; C12orf65; C19orf12; C2orf71; CA5A; CACNA1C; CACNG2; CAMTA1; CANT1; CARS2; CASK; CAV1; CBS; CC2D1A; CC2D2A; CCDC115; CCDC22; CCDC28B; CCDC39; CCDC40; CCDC88C; CDC42; CDH15; CDH23; CDK16; CDK5RAP2; CDK6; CDKL5; CDKN1C; CENPE; CENPF; CENPJ; CEP104; CEP135; CEP152; CEP290; CEP41; CEP57; CEP63; CEP89; CFTR; CHCHD10; CHD7; CHD8; CHRNA4; CISD2; CKAP2L; CLCN4; CLCNKA; CLIC2; CLN3; CLN5; CLN6; CLN8; CLPB; CLPP; CLRN1; CLTC; CNKSR2; CNTNAP2; CNTNAP5; COA3; COA5; COA6; COA7; COASY; COG5; COG7; COG8; COL1A2; COQ2; COQ4; COQ6; COQ7; COQ9; COX10; COX14; COX15; COX20; COX4I1; COX4I2; COX6B1; COX7B; COX8A; CP; CPA6; CPLANE1; CPS1; CPT1A; CPT2; CRADD; CRB1; CRBN; CREBBP; CRIPT; CRX; CTC1; CTCF; CTNNB1; CTSA; CTSD; CTSF; CUL4B; CYB5R3; CYC1; CYP11B2; CYP24A1; CYP27A1; CYP27B1; D2HGDH; DARS; DARS2; DBT; DCAF17; DCX; DDHD1; DDX3X; DEAF1; DGUOK; DHCR24; DHCR7; DHTKD1; DIAPH1; DKC1; DLAT; DLD; DLG3; DLGAP2; DMD; DMGDH; DNA2; DNAAF1; DNAAF2; DNAH11; DNAH5; DNAI1; DNAI2; DNAJC19; DNAJC5; DNAL1; DNM1L; DOCK4; DOCK8; DPAGT1; DPP10; DPP6; DPYD; DYNC1H1; DYNC2H1; DYRK1A; EARS2; EBP; ECHS1; ECI1; ECM1; ECSIT; EFNB1; EFTUD2; EHMT1; EIF2AK3; EIF2S3; ELAC2; ELOVL4; EP300; EPB41L1; ERCC2; ERCC3; ERCC5; ERCC6; ERCC8; ETFA; ETFB; ETFDH; ETHE1; EVC; EVC2; FA2H; FAAH2; FAM126A; FANCB; FANCG; FARS2; FASTKD2; FBLN5; FBN1; FBP1; FBXL4; FBXO31; FDX1L; FGD1; FGF14; FGFR1; FGFR2; FGFR3; FH; FKRP; FKTN; FLAD1; FLNA; FMR1; FOLR1; FOXG1; FOXP1; FOXP2; FOXRED1; FRMPD4; FTL; FTO; FTSJ1; G6PC3; GABRB3; GABRG1; GABRG2; GAD1; GALE; GAMT; GAN; GARS; GATM; GBA; GBE1; GCDH; GCK; GCSH; GDAP1; GDI1; GFAP; GFER; GFM1; GFM2; GHR; GK; GLDC; GLI3; GLIS2; GLRA1; GLRX5; GLUD1; GLUL; GLYCTK; GM2A; GNA14; GNAS; GNPAT; GNPTAB; GNPTG; GPAM; GPC3; GPR88; GRIA3; GRIK2; GRIN1; GRIN2A; GRIN2B; GRM1; GRN; GRPR; GSPT2; GSS; GTPBP2; GTPBP3; GUCY2D; GUSB; GYG2; GYS2; HADH; HADHA; HADHB; HARS2; HAX1; HCCS; HCFC1; HDAC4; HDAC8; HECW2; HEPACAM; HERC2; HEXB; HIBCH; HLCS; HMGB3; HMGCL; HMGCS2; HOGA1; HOXA1; HOXD10; HPD; HPRT1; HRAS; HSD17B10; HSPD1; HSPG2; HTRA2; HUWE1; HYLS1; IARS; IARS2; IBA57; IDH2; IDS; IER3IP1; IFT43; IFT80; IGBP1; IGF1; IGF1R; IL1RAPL1; IMMP2L; IMPA1; IMPDH1; INSR; INVS; IQCB1; IQSEC2; IRX5; ISCA2; ISCU; ITGA7; ITPA; IVD; KANSL1; KATNAL2; KATNB1; KCND2; KCNH1; KCNJ1; KCNJ10; KCNJ11; KCNJ13; KCNK9; KCNQ2; KCTD13; KCTD7; KDM5C; KDM6A; KIAA0196; KIAA1033; KIAA2022; KIF11; KIF1A; KIF21A; KIF4A; KIF5A; KIF7; KIRREL3; KLC2; KLF8; KLHL3; KMT2D; KNL1; KPTN; KRAS; L1CAM; L2HGDH; LAMA2; LAMC3; LAMP2; LARGE1; LARS; LARS2; LAS1L; LBR; LCA5; LHX3; LIAS; LIG4; LINS1; LIPT1; LMBRD1; LRAT; LRP5; LRPPRC; LYRM4; LYRM7; LYST; MAGT1; MAN1B1; MAN2B1; MANBA; MAOA; MARS2; MAT1A; MBD5; MBTPS2; MCCC1; MCCC2; MCEE; MCOLN1; MCPH1; MECP2; MED12; MED17; MED23; MEF2C; MET; METTL23; MFF; MFN2; MFSD2A; MFSD8; MGAT2; MGME1; MGST3; MICU1; MID1; MID2; MIPEP; MIR17HG; MKKS; MKS1; MLYCD; MMAA; MMAB; MMADHC; MOCS2; MPC1; MPI; MPV17; MPZ; MRAP; MRE11; MRPL12; MRPL3; MRPL44; MRPS16; MRPS22; MRPS23; MRRF; MSMO1; MTFMT; MTHFR; MTM1; MTO1; MTPAP; MTR; MUT; MYCN; MYH3; MYO5A; MYO7A; NAA10; NADK2; NAGA; NAGS; NARS2; NBAS; NBN; NDE1; NDP; NDST1; NDUFA1; NDUFA10; NDUFA11; NDUFA12; NDUFA13; NDUFA2; NDUFA4; NDUFA6; NDUFA8; NDUFA9; NDUFAF1; NDUFAF2; NDUFAF3; NDUFAF4; NDUFAF5; NDUFAF6; NDUFAF7; NDUFB1; NDUFB10; NDUFB11; NDUFB3; NDUFB8; NDUFB9; NDUFS1; NDUFS2; NDUFS3; NDUFS4; NDUFS5; NDUFS6; NDUFS7; NDUFS8; NDUFV1; NDUFV2; NDUFV3; NEGR1; NEK1; NEK8; NEXMIF; NF1; NF2; NFS1; NFU1; NGF; NGLY1; NHEJ1; NHP2; NHS; NIN; NIPBL; NIPSNAP1; NIPSNAP3A; NKX2-5; NLGN3; NLGN4X; NME8; NODAL; NPC1; NPC2; NPHP1; NPHP3; NPHP4; NPL; NR2E1; NR2F1; NRXN1; NSD1; NSDHL; NSUN2; NSUN3; NTNG1; NUBPL; NUP62; OAT; OCRL; OFD1; OGDH; OGT; OPA1; OPA3; OPHN1; ORC1; OTC; OXCT1; PAFAH1B1; PAH; PAK3; PANK2; PARP10; PARS2; PAX6; PC; PCCA; PCCB; PCDH15; PCDH19; PCDH9; PCK2; PCLO; PCNT; PDE10A; PDE4D; PDE8B; PDHA1; PDHB; PDHX; PDK3; PDP1; PDSS1; PDSS2; PET100; PEX1; PEX10; PEX12; PEX13; PEX14; PEX16; PEX19; PEX2; PEX26; PEX3; PEX5; PEX6; PEX7; PGAP1; PGK1; PHC1; PHF6; PHF8; PHKA2; PHKG2; PHYH; PIEZO2; PIGL; PIGO; PIGQ; PIGV; PIP5K1B; PKD2; PKHD1; PLA2G6; PLEKHG2; PLK4; PLP1; PNKP; PNPLA2; PNPLA4; PNPT1; POLG; POLG2; POMGNT1; POMT1; POMT2; PON3; PORCN; POU1F1; PPA2; PPOX; PPP1R15B; PPP2R5D; PPT1; PPT2; PQBP1; PRICKLE1; PRKAR1A; PRMT7; PRPS1; PRSS12; PTCD1; PTCHD1; PTEN; PTPN11; PURA; PUS1; PYCR1; PYGL; PYGM; QARS; QRSL1; RAB39B; RAB40AL; RAD21; RAI1; RANBP2; RAPSN; RARS2; RBBP8; RBFOX1; RBM10; RD3; RDH12; REEP1; RELN; RFX6; RMND1; RNASEH1; ROGDI; ROR2; RPE65; RPGR; RPGRIP1; RPGRIP1L; RPL10; RPS6KA3; RRM2B; RSPH4A; RSPH9; RTN4IP1; RTTN; RYR1; SACS; SAMHD1; SARS2; SASS6; SATB2; SBDS; SCN1A; SCN2A; SCN8A; SCO1; SCO2; SCP2; SDCCAG8; SDHA; SDHAF1; SDHD; SERAC1; SERPINI1; SETBP1; SETD5; SFXN4; SGCA; SGSH; SHANK2; SHANK3; SHROOM4; SIL1; SLC16A2; SLC19A2; SLC19A3; SLC1A4; SLC20A2; SLC22A5; SLC24A4; SLC25A1; SLC25A12; SLC25A13; SLC25A15; SLC25A19; SLC25A20; SLC25A22; SLC25A26; SLC25A3; SLC25A4; SLC25A46; SLC2A1; SLC2A2; SLC33A1; SLC35C1; SLC35G2; SLC39A8; SLC46A1; SLC4A4; SLC52A2; SLC5A2; SLC5A5; SLC6A4; SLC6A8; SLC7A7; SLC9A6; SLC9A9; SLX4; SMARCA2; SMARCA4; SMARCB1; SMARCE1; SMC1A; SMC3; SMG6; SMS; SNIP1; SNRPN; SOBP; SOX10; SOX11; SOX2; SOX3; SOX5; SPAST; SPATA5; SPATA7; SPECC1L; SPG20; SPG7; SPR; SPRED1; SPTAN1; SRCAP; SRD5A3; SRPX2; ST3GAL3; ST7; STAMBP; STAT5B; STIL; STK3; STRA6; STX11; STXBP1; SUCLA2; SUCLG1; SUGCT; SURF1; SYN1; SYNGAP1; SYP; SYT14; TACO1; TAF1; TAF2; TALDO1; TANGO2; TARS2; TAZ; TBC1D24; TBCE; TBX1; TCF4; TCTN1; TCTN2; TECR; TFAM; TFG; TGIF1; TH; THOC2; THOC6; THRB; TIMM50; TIMM8A; TINF2; TK2; TMCO1; TMEM126A; TMEM126B; TMEM165; TMEM216; TMEM231; TMEM67; TMEM70; TMLHE; TOPORS; TPH2; TPK1; TPP1; TRAPPC9; TRHR; TRIM32; TRIP12; TRIT1; TRMT10A; TRMT10C; TRMT5; TRMU; TSC1; TSC2; TSEN2; TSEN34; TSEN54; TSFM; TSHR; TSPAN7; TTC19; TTC21B; TTC37; TTC8; TTI2; TTR; TUBA1A; TUBA8; TUBB2B; TUBB3; TUBGCP4; TUBGCP6; TUFM; TULP1; TUSC3; TWIST1; TWNK; TXN2; TYMP; UBE2A; UBE3A; UBR1; UGT1A1; UMOD; UNC80; UPB1; UPF3B; UQCC2; UQCC3; UQCRB; UQCRC2; UQCRQ; UROC1; USH1C; USH1G; USH2A; USP9X; VARS2; VHL; VLDLR; VPS13B; VRK1; WDPCP; WDR13; WDR19; WDR26; WDR35; WDR45; WDR62; WDR73; WDR81; WFS1; WHRN; WNT5A; WWOX; XPNPEP3; XRCC4; YARS2; YME1L1; YY1; ZBTB16; ZBTB24; ZC4H2; ZCCHC12; ZDHHC15; ZDHHC9; ZEB2; ZFP57; ZFYVE26; ZIC2; ZIC3; ZMYM3; ZMYND11; ZNF335; ZNF41; ZNF507; ZNF674; ZNF711; ZNF804A; ZNF81; ZNHIT6; AASS; ABAT; ABCA1; ABCB6; ABCC8; ABCD3; ABCD4; ABCG8; ACACA; ACAT2; ACSF3; ADAMTSL2; AGA; AGXT; AIMP1; AK2; AKT2; ALAS2; ALDH2; ALDH3A2; ALDH7A1; ALDOA; ALG1; ALG13; ALG2; ALG3; ALG8; ALG9; ANTXR2; APOA1; APOA5; APOB; APOC2; APOC3; APOE; ARSA; ARSB; ASAH1; ASL; ASNS; ASPA; ATIC; ATXN2; B4GALT1; BAX; BCL2; BEST1; BLK; BRAT1; C10orf2; C19orf70; CACNA1A; CACNA1S; CASP8; CAT; CD320; CEL; CETP; CHD2; CHKB; CLDN16; CLDN19; CNNM2; COG1; COG4; COG6; COL11A2; COL2A1; COMT; CPOX; CSF1R; CTNS; CTSC; CTSK; CUL3; CYB5A; CYCS; CYP11A1; CYP11B1; DDOST; DHODH; DIABLO; DMPK; DNM1; DOCK7; DOLK; DPM1; DPM3; DPYS; DYM; EEF1A2; EGF; EIF2B1; EIF2B2; EIF2B3; EIF2B4; EIF2B5; ENO3; EPHX2; FAR1; FECH; FGF12; FKBP10; FOXP3; FTH1; FUCA1; FXN; FXYD2; G6PC; GAA; GABRA1; GABRB2; GALC; GALNS; GALT; GCH1; GJC2; GLA; GLB1; GLIS3; GNAO1; GNE; GNS; GPHN; GPI; GPIHBP1; GPX1; GRHPR; GSR; GYG1; GYS1; HCN1; HEXA; HGSNAT; HK1; HMBS; HNF1A; HNF1B; HNF4A; HNRNPU; HSD11B2; HSD17B4; HSD3B2; HSPA9; HTT; HYAL1; IDH1; IDH3B; IDUA; INPP5E; INS; KARS; KCNA1; KCNA2; KCNB1; KCNQ3; KCNT1; KIF1B; KLF11; KRT5; LDHA; LDLR; LDLRAP1; LIPA; LIPC; LMNB1; LPIN1; LPL; MIP; MLC1; MLH1; MMACHC; MNX1; MOCS1; MOGS; MPDU1; MSRB3; MTRR; MUTYH; MVK; NACC1; NAGLU; NECAP1; NEU1; NEUROD1; NEUROG3; NOTCH3; NR3C2; NTHL1; OGG1; PARK2; PARK7; PAX4; PCBD1; PCSK9; PDX1; PEX11B; PFKM; PGAM2; PGM1; PHKA1; PHKB; PIGA; PINK1; PKLR; PLCB1; PMM2; PNKD; PNPO; POLR3A; POLR3B; PPARG; PRKAG2; PRODH; PSAP; PTF1A; PTRF; PTS; QDPR; RECQL4; RFT1; RMRP; RNASEH2A; RNASEH2B; RNASEH2C; RNASEL; RNASET2; RPIA; RPL35A; SARDH; SCN1B; SCNN1A; SCNN1B; SCNN1G; SDHAF2; SDHB; SDHC; SECISBP2; SIK1; SLC12A3; SLC12A5; SLC13A5; SLC16A1; SLC17A5; SLC25A38; SLC35A1; SLC35A2; SLC37A4; SLCO1B1; SMPD1; SNAP25; SNAP29; SOD1; SOD2; SPTLC2; ST3GAL5; STAR; SUMF1; SUOX; SYNJ1; SZT2; TBCD; TBCK; TCIRG1; TMEM138; TMEM237; TPI1; TREM2; TREX1; TRPM6; TYROBP; UBA5; UNG; WNK1; WNK4; AARS; ACTB; ACTG1; ADAM22; ADGRG1; ADK; ADRA2B; AMPD2; AP3B2; APC2; ARHGEF15; ARV1; ASXL2; ATN1; ATP1A3; ATP6V0A2; B3GALNT2; B3GNT1; B3GNT2; B4GAT1; BCAP31; BRD2; BRF1; C12orf57; CACNA1H; CACNA2D2; CACNB4; CAD; CASC5; CASR; CBL; CCL2; CCM2; CCND2; CDC45; CDC6; CDK5; CDON; CDT1; CEP164; CERS1; CHMP1A; CHRNA2; CHRNB2; CIT; CLCN2; CLP1; CNPY3; CNTN2; COG2; COL18A1; COL4A1; COL4A2; COQ8A; CPLX1; CRH; CSNK1G1; CSPP1; CSTB; CYFIP2; DAG1; DCHS1; DENND5A; DEPDC5; DHDDS; DHFR; DNAJC12; DNMT3A; DPM2; EED; EFHC1; EMX2; EOMES; EPM2A; ERMARD; EXOSC3; EXOSC8; EZH2; FASN; FAT4; FIBP; FIG4; FLVCR2; FRRS1L; GABBR2; GABRB1; GABRD; GLI2; GLRB; GMNN; GMPPA; GMPPB; GNB1; GOSR2; GPSM2; GRIN2D; GUF1; HACE1; HCN4; HERC1; HIKESHI; HTRA1; IFIH1; IGF2; IRF2BPL; ISPD; KAT6A; KCNAB2; KCNC1; KCNH2; KCNK18; KCNMA1; KCNT2; KCNV2; KIF1BP; KIF2A; KIF5C; KPNA7; KRIT1; LAMB1; LARGE; LGI1; LMNB2; MAP2K1; MAP2K2; MAPK10; MBOAT7; MDH2; ME2; MED13; MPDZ; MTOR; NAXE; NEDD4L; NFIX; NHLRC1; NOL3; NPRL2; NPRL3; NRAS; NSMCE2; NTRK2; NUS1; OCLN; ORC4; ORC6; PACS1; PACS2; PDCD10; PDE6D; PGAP2; PGAP3; PHGDH; PI4KA; PIGG; PIGM; PIGN; PIGP; PIGT; PIGW; PIGY; PIK3CA; PIK3R2; PLAA; PLPBP; POLR1C; POMGNT2; POMK; PPM1K; PPP2R5B; PPP2R5C; PPP3CA; PRDM8; PRICKLE2; PRRT2; PRUNE1; PSAT1; PSPH; PTCH1; PYCR2; RAB18; RAB3GAP1; RAB3GAP2; RARS; RASA1; RBFOX3; RHOBTB2; RIN2; RNF125; RNF135; RORB; RXYLT1; RYR3; SCARB2; SCN10A; SCN3A; SCN4A; SCN5A; SCN9A; SEPSECS; SETD2; SGCE; SHH; SHOC2; SIX3; SLC1A2; SLC1A3; SLC4A10; SLC6A1; SLC6A5; SLC6A9; SNORD118; SOS1; SRGAP2; SSR4; STN1; STRADA; STT3A; STT3B; STX1B; TBC1D20; TBC1D7; TBL1XR1; TBP; TCTN3; TDGF1; TMEM199; TMEM5; TMTC3; TNK2; TOE1; TRAIP; TSEN15; TUBB; TUBB2A; TUBB4A; TUBG1; VDAC1; VPS11; VPS13A; VPS33A; VPS53; YWHAE; YWHAG; ZNF423; A2M; A2ML1; AAAS; ABCA7; ABHD12; ABI3; ACE; ACTA1; ACVRL1; ADAM10; ADCY5; ADORA1; AGPAT2; AGRN; AIRE; AKT1; ALS2; ANG; ANO3; AP5Z1; APOA1BP; APP; ARHGEF28; ARL6IP1; ARSI; ASCL1; ATCAY; ATM; ATP2B3; ATP2B4; ATP8A2; ATXN1; ATXN3; ATXN7; B4GALNT1; BEAN1; BICD2; BSCL2; BTNL2; C21orf2; C9orf72; CA2; CA8; CACNA1B; CACNA1G; CAMK2A; CAMK2B; CAPN1; CASS4; CAVIN1; CCT5; CD2AP; CD33; CELF1; CFL2; CHAT; CHCHD2; CHMP2B; CHRNA1; CHRNB1; CHRND; CHRNE; CHRNG; CHST14; CIDEC; CIZ1; CLCN6; CLU; COL6A2; COL6A3; COLQ; COX6A1; CPT1C; CR1; CRAT; CRYM; CWF19L1; CYP2U1; CYP7B1; DAO; DCTN1; DDB2; DDC; DDHD2; DNAJB2; DNAJC6; DNM2; DNMT1; DOK7; DRD2; DRD5; DSTYK; ECE1; ECEL1; EDN3; EDNRB; EEF2; EGR2; EIF4G1; ELAVL1; ELMO2; ELOVL5; ELP1; ELP4; ENG; ENTPD1; EPHA1; EPHA4; ERBB4; ERCC4; ERLIN1; ERLIN2; FAM134B; FBN2; FBXO38; FBXO7; FERMT2; FGD4; FGF8; FHL1; FLRT1; FLVCR1; FOXC1; FUS; GAK; GATA3; GBA2; GCLC; GDNF; GFPT1; GIGYF2; GJA1; GJB1; GLDN; GLE1; GLMN; GNAL; GNAQ; GNB4; GRID2; HESX1; HINT1; HNRNPA1; HNRNPA2B1; HPCA; HSPB1; HSPB3; HSPB8; IGHMBP2; INF2; INPP5D; ITM2B; ITPR1; JPH3; KANK1; KAT6B; KCNC3; KCND3; KCTD17; KIAA0226; KIDINS220; KIF1C; KLC4; KLHL40; KMT2B; LAMA1; LITAF; LMNA; LRRK2; LRSAM1; LUM; MAG; MAPT; MARK2; MARK4; MARS; MATR3; MECR; MED25; MPO; MRE11A; MS4A4A; MS4A6E; MTMR2; MTTP; MUSK; MYBPC1; MYH2; NALCN; NDRG1; NEB; NEFH; NEFL; NIPA1; NKX2-1; NKX2-6; NKX6-2; NOP56; NT5C2; NTRK1; OBFC1; OPTN; OTX2; PDGFB; PDGFRB; PDYN; PFN1; PHOX2A; PHOX2B; PICALM; PIK3R5; PLCG2; PLEKHG5; PLOD2; PMP22; PMPCA; PNPLA6; POLH; PPP2R2B; PRKCG; PRKN; PRKRA; PRNP; PROP1; PRPH; PRPH2; PRX; PSEN1; PSEN2; PTK2B; PVRL2; RAB29; RAB38; RAB7A; RAF1; RASA2; REEP2; RET; RETREG1; RIN3; RIT1; RNF170; RNF216; RRAS; RTN2; RUBCN; SAMD9L; SARM1; SBF1; SBF2; SCYL1; SELENON; SETX; SGTA; SH3TC2; SIGMAR1; SLC12A6; SLC30A10; SLC39A14; SLC52A3; SLC5A7; SLC6A3; SMAD4; SNCA; SNCB; SNX14; SORL1; SOX18; SPART; SPG11; SPG21; SPTBN2; SPTLC1; SQSTM1; STUB1; SYNE1; TAF15; TARDBP; TBC1D4; TBK1; TDP1; TECPR2; TEK; TGFB3; TGM6; THAP1; TMEM106B; TMEM230; TMEM240; TNNI2; TNNT1; TNNT3; TOMM40; TOR1A; TP53INP1; TPM2; TPM3; TRIM2; TRIP4; TRPM7; TRPV4; TTBK2; TTPA; TUBA4A; UBA1; UBQLN2; UCHL1; UNC13A; USP8; VAC14; VAMP1; VAPB; VCP; VEGFA; VPS13C; VPS33B; VPS35; VPS37A; WASHC5; WDR48; XK; XPA; XPC; XPR1; YARS; ZBTB42; ZCWPW1; ZFR; ZFYVE27; ZMPSTE24; ABCC9; ACADL; ACTC1; ACTN2; ACVR1; ADCY6; ADGRG6; ADSSL1; AKAP9; ALG14; AMPD3; ANK2; ANO5; ARHGEF10; ASCC1; ATL3; ATP2A1; BAG3; BMPR2; BVES; CACNA1D; CACNB2; CALR3; CAPN3; CASQ1; CASQ2; CAV3; CCDC78; CLCN1; CNTN1; CNTNAP1; COL12A1; COL13A1; COL6A1; CRYAB; CSRP3; CTDP1; DCAF8; DCTN2; DES; DGAT2; DNAJB5; DNAJB6; DNAJC3; DRP2; DSC2; DSG2; DSP; DST; DTNA; DYSF; EMD; ERBB3; EYA4; FBN3; FHL2; FKBP14; FLNC; GJA5; GJB3; GOLGA2; GPD1L; HACD1; HARS; HNRNPDL; IKBKAP; JPH1; JPH2; JUP; KBTBD13; KCNA5; KCNE1; KCNE2; KCNE3; KCNJ2; KCNJ5; KCNQ1; KLHL41; KLHL9; KY; LAMA4; LAMB2; LDB3; LIMS2; LMOD3; LRP4; MAMLD1; MAP3K20; MEGF10; MME; MORC2; MSTN; MTMR14; MYBPC3; MYF6; MYH14; MYH6; MYH7; MYH8; MYL2; MYL3; MYLK2; MYO9A; MYOT; MYOZ2; MYPN; NEK9; NEXN; NPPA; ORAI1; PABPN1; PIP5K1C; PKP2; PLEC; PLN; PMP2; POGLUT1; PRDM12; PREPL; PYROXD1; RAX2; RBCK1; RBM20; RBM7; RYR2; SCN11A; SCN3B; SCN4B; SEMA3A; SEPN1; SEPT9; SGCB; SGCD; SGCG; SLC18A3; SMCHD1; SMN1; SMN2; SNTA1; SPEG; STAC3; STIM1; SYNE2; SYT2; TCAP; TIA1; TMEM43; TMPO; TNNC1; TNNI3; TNNT2; TNPO3; TOR1AIP1; TPM1; TRAPPC11; TRDN; TRIM54; TRIM63; TRPA1; TRPM4; TTN; VCL; VIPAS39; VMA21

Подготовка к анализу: нет

Примечание: С собой необходимо иметь направление и выписки/заключения от врачей.