Большая неврологическая панель

Метод исследования: секвенирование нового поколения (NGS).

Большая неврологическая панель включает в себя более 2000 генов, ассоциированных с неврологическими заболеваниями. Этот, наиболее часто назначаемый врачами неврологами тест, перекрывает следующие группы заболеваний:

• Эпилепсии и судорожные состояния
• Нейродегенеративные заболевания
• Задержка развития и аутизм
• Детский церебральный паралич
• Нервно-мышечные заболевания

Виды генетических изменений, определяемых полным секвенированием экзома:

• Однонуклеотидные  и мультинуклеотидные варианты (SNV и MNV) в экзонах всех клинически значимых генов;
• Малые вставки-делеции (in/del) до 50 пар нуклеотидов в экзонах всех клинически значимых генов;
• Вариации числа копий генов (CNV), такие как делеции/микроделеции и дупликации/микродупликации среднего и крупного размера (с ограничениями).

Секвенирование нового поколения (NGS) со средним числом прочтений каждого участка генома не менее 70 (каждый участок генома прочитывается в среднем 70 раз для снижения влияния технических ошибок сиквенса на результаты исследования. При секвенировании генов, входящих в большую неврологическую панель, патогенные или вероятно патогенные варианты выявляется у  10-30 % пациентов имеющих подозрение на генетическую природу заболевания.

Список генов, входящих в исследование "Большая неврологическая панель": A2M, A2ML1, AAAS, AARS, AARS2, AASS, ABAT, ABCA1, ABCA7, ABCB6, ABCB7, ABCC6, ABCC8, ABCC9, ABCD1, ABCD3, ABCD4, ABCG5, ABCG8, ABHD12, ABHD5, ABI3, ACACA, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACAT2, ACE, ACO2, ACOX1, ACSF3, ACSL4, ACTA1, ACTA2, ACTB, ACTC1, ACTG1, ACTN2, ACVR1, ACVRL1, ACY1, ADAM10, ADAM22, ADAMTSL, 2, ADAR, ADAT3, ADCK3, ADCK4, ADCY5, ADCY6, ADGRG1, ADGRG6, ADGRV1, ADK, ADNP, ADORA1, ADRA2B, ADSL, ADSSL1, AFF2, AFG3L2, AGA, AGK, AGL, AGPAT2, AGRN, AGT, AGTR2, AGXT, AHDC1, AHI1, AIFM1, AIMP1, AIPL1, AIRE,  AK2, AKAP9, AKT1, AKT2, AKT3, ALAS2, ALDH18A1, ALDH2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALS2, ALX4, AMACR, AMER1, AMPD1, AMPD2, AMPD3, AMT, ANG, ANK2, ANK3, ANKLE2, ANKRD11, ANO10, ANO3, ANO5, ANTXR2, AP1S1, AP1S2, AP3B1, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APC, APC2, APOA1, APOA1BP, APOA5, APOB, APOC2, APOC3, APOE, APOPT1, APP, APTX, AR, ARFGEF2, ARG1, ARHGEF10, ARHGEF15, ARHGEF28,  ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARL13B, ARL6, ARL6IP1, ARSA, ARSB, ARSI, ARV1, ARX, ASAH1, ASCC1, ASCL1, ASL, ASNS, ASPA, ASPM, ASS1, ASXL2, ATAD3A, ATCAY, ATIC,  ATL1, ATL3, ATM, ATN1, ATP10A, ATP13A2, ATP1A2, ATP1A3, ATP2A1, ATP2A2, ATP2B3, ATP2B4, ATP5A1, ATP5E, ATP6AP2, ATP6V0A2, ATP7A, ATP7B, ATP8A2, ATPAF2, ATR, ATRIP, ATRX, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, AUH, AUTS2, AVP, AVPR1A, AVPR2, B3GALNT2, B3GNT1, B3GNT2, B4GALNT1, B4GALT1, B4GAT1, B9D1, B9D2, BAG3, BAX, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCAT2, BCKDHA, BCKDHB, BCKDK, BCL2, BCOR, BCS1L, BDNF, BEAN1, BEST1, BICD2, BIN1, BLK, BLM, BMPR1A, BMPR2, BOLA3, BRAF, BRAT1, BRCA1, BRCA2, BRD2, BRF1, BRIP1, BRWD3, BSCL2, BTD, BTNL2, BUB1B, BVES, C10orf2, C12orf57, C12orf65, C19orf12, C19orf70, C21orf2, C2orf71, C9orf72, CA2, CA5A, CA8, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1G, CACNA1H, CACNA1S, CACNA2D2, CACNB2, CACNB4, CACNG2, CAD, CALR3, CAMK2A, CAMK2B, CAMTA1, CANT1, CAPN1, CAPN3, CARS2, CASC5, CASK, CASP8, CASQ1, CASQ2, CASR, CASS4, CAT, CAV1, CAV3, CAVIN1, CBL, CBS, CC2D1A, CC2D2A, CCDC115, CCDC22, CCDC28B, CCDC39, CCDC40, CCDC78, CCDC88C, CCL2, CCM2, CCND2, CCT5, CD2AP, CD320, CD33, CDC42, CDC45, CDC6, CDH15, CDH23, CDK16, CDK5, CDK5RAP2, CDK6, CDKL5, CDKN1C, CDON, CDT1, CEL, CELF1, CENPE, CENPF, CENPJ, CEP104, CEP135, CEP152, CEP164, CEP290, CEP41, CEP57, CEP63, CEP89, CERS1, CETP, CFL2, CFTR, CHAT, CHCHD10, CHCHD2, CHD2, CHD7, CHD8, CHKB, CHMP1A, CHMP2B, CHRNA1, CHRNA2, CHRNA4, CHRNB1, CHRNB2, CHRND, CHRNE, CHRNG, CHST14, CIDEC, CISD2, CIT, CIZ1, CKAP2L, CLCN1, CLCN2, CLCN4, CLCN6, CLCNKA, CLDN16, CLDN19, CLIC2, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLRN1, CLTC,  CLU, CNKSR2, CNNM2, CNPY3, CNTN1, CNTN2, CNTNAP1, CNTNAP2, CNTNAP5, COA3, COA5, COA6, COA7, COASY, COG1, COG2, COG4, COG5, COG6, COG7, COG8, COL11A2, COL12A1, COL13A1, COL18A1, COL1A2, COL2A1, COL3A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COLQ, COMT, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ9, COX10, COX14, COX15, COX20, COX4I1, COX4I2, COX6A1, COX6B1, COX7B, COX8A, CP, CPA6, CPLANE1, CPLX1, CPOX, CPS1, CPT1A, CPT1C, CPT2, CR1, CRADD, CRAT, CRB1, CRBN, CREBBP, CRH, CRIPT, CRX, CRYAB, CRYM, CSF1R, CSNK1G1, CSPP1, CSRP3, CSTB, CTC1, CTCF, CTDP1, CTNNB1, CTNS, CTSA, CTSC, CTSD, CTSF, CTSK, CUL3, CUL4B, CWF19L1, CYB5A, CYB5R3, CYC1, CYCS, CYFIP2, CYP11A1, CYP11B1, CYP11B2, CYP24A1, CYP27A1, CYP27B1, CYP2U1, CYP7B1, D2HGDH, DAG1, DAO, DARS, DARS2, DBT, DCAF17, DCAF8, DCHS1, DCTN1, DCTN2, DCX, DDB2, DDC, DDHD1, DDHD2, DDOST, DDX3X, DEAF1, DENND5A, DEPDC5, DES, DGAT2, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHODH, DHTKD1, DIABLO, DIAPH1, DKC1, DLAT, DLD, DLG3, DLGAP2, DMD, DMGDH, DMPK, DNA2, DNAAF1, DNAAF2, DNAH11, DNAH5, DNAI1, DNAI2, DNAJB2, DNAJB5, DNAJB6, DNAJC12, DNAJC19, DNAJC3, DNAJC5, DNAJC6, DNAL1, DNM1, DNM1L, DNM2, DNMT1, DNMT3A, DOCK4, DOCK7, DOCK8, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPP10, DPP6, DPYD, DPYS, DRD2, DRD5, DRP2, DSC2, DSG2, DSP, DST, DSTYK, DTNA, DYM, DYNC1H1, DYNC2H1, DYRK1A, DYSF, EARS2, EBP, ECE1, ECEL1, ECHS1, ECI1, ECM1, ECSIT, EDN3, EDNRB, EED, EEF1A2, EEF2, EFHC1, EFNB1, EFTUD2, EGF, EGR2, EHMT1, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF4G1, ELAC2, ELAVL1, ELMO2, ELOVL4, ELOVL5, ELP1, ELP4, EMD, EMX2, ENG, ENO3, ENTPD1, EOMES, EP300, EPB41L1, EPHA1, EPHA4, EPHX2, EPM2A, ERBB3, ERBB4, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERLIN1, ERLIN2, ERMARD, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EXOSC3, EXOSC8, EYA4, EZH2, FA2H, FAAH2, FAM126A, FAM134B, FANCB, FANCG, FAR1, FARS2, FASN, FASTKD2, FAT4, FBLN5, FBN1, FBN2, FBN3, FBP1, FBXL4, FBXO31, FBXO38, FBXO7, FDX1L, FECH, FERMT2, FGD1, FGD4, FGF12, FGF14, FGF8, FGFR1, FGFR2, FGFR3, FH, FHL1, FHL2, FIBP, FIG4, FKBP10, FKBP14, FKRP, FKTN, FLAD1, FLNA, FLNC, FLRT1, FLVCR1, FLVCR2, FMR1, FOLR1, FOXC1, FOXG1, FOXP1, FOXP2, FOXP3, FOXRED1, FRMPD4, FRRS1L, FTH1, FTL,  FTO, FTSJ1, FUCA1, FUS, FXN, FXYD2, G6PC, G6PC3, GAA, GABBR2, GABRA1, GABRB1, GABRB2, GABRB3, GABRD, GABRG1, GABRG2, GAD1, GAK, GALC, GALE, GALNS, GALT, GAMT, GAN, GARS, GATA3, GATM, GBA, GBA2, GBE1, GCDH, GCH1, GCK, GCLC, GCSH, GDAP1, GDI1, GDNF, GFAP, GFER, GFM1, GFM2, GFPT1, GHR, GIGYF2, GJA1, GJA5, GJB1, GJB3, GJC2, GK,  GLA, GLB1, GLDC, GLDN, GLE1, GLI2, GLI3, GLIS2, GLIS3, GLMN, GLRA1, GLRB, GLRX5, GLUD1, GLUL, GLYCTK, GM2A, GMNN, GMPPA, GMPPB, GNA14, GNAL, GNAO1, GNAQ, GNAS, GNB1, GNB4, GNE, GNPAT, GNPTAB, GNPTG, GNS, GOLGA2, GOSR2, GPAM, GPC3, GPD1L, GPHN, GPI, GPIHBP1, GPR88, GPSM2, GPX1, GRHPR, GRIA3, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRM1, GRN, GRPR, GSPT2, GSR, GSS, GTPBP2, GTPBP3, GUCY2D, GUF1, GUSB, GYG1, GYG2, GYS1, GYS2, HACD1, HACE1, HADH, HADHA, HADHB, HARS, HARS2, HAX1, HCCS, HCFC1, HCN1, HCN4, HDAC4, HDAC8, HECW2, HEPACAM, HERC1, HERC2, HESX1, HEXA, HEXB, HGSNAT, HIBCH, HIKESHI, HINT1, HK1,  HLCS, HMBS, HMGB3, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HNRNPA1,  HNRNPA2, HNRNPDL, HNRNPU, HOGA1, HOXA1, HOXD10, HPCA,  HPD, HPRT1, HRAS, HSD11B2, HSD17B10, HSD17B4, HSD3B2, HSPA9, HSPB1, HSPB3,HSPB8, HSPD1, HSPG2, HTRA1, HTRA2, HTT, HUWE1, HYAL1, HYLS1, IARS, IARS2, IBA57, IDH1, IDH2, IDH3B, IDS,  IDUA, IER3IP1, IFIH1, IFT43, IFT80, IGBP1, IGF1, IGF1R, IGF2, IGHMBP2, IKBKAP, IL1RAPL1, IMMP2L, IMPA1, IMPDH1, INF2, INPP5D, INPP5E, INS, INSR, INVS, IQCB1, IQSEC2, IRF2BPL, IRX5, ISCA2, ISCU, ISPD, ITGA7, ITM2B, ITPA, ITPR1, IVD, JPH1, JPH2, JPH3,  JUP, KANK1, KANSL1, KARS, KAT6A, KAT6B, KATNAL2, KATNB1, KBTBD13, KCNA1, KCNA2, KCNA5, KCNAB2, KCNB1, KCNC1, KCNC3, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNH1, KCNH2, KCNJ1, KCNJ10, KCNJ11, KCNJ13, KCNJ2, KCNJ5, KCNK18, KCNK9, KCNMA1, KCNQ1, KCNQ2, KCNQ3, KCNT1, KCNT2, KCNV2, KCTD13, KCTD17, KCTD7, KDM5C, KDM6A, KIAA0196, KIAA0226, KIAA1033, KIAA2022, KIDINS220, KIF11, KIF1A, KIF1B, KIF1BP, KIF1C, KIF21A, KIF2A, KIF4A, KIF5A, KIF5C, KIF7, KIRREL3, KLC2, KLC4, KLF11, KLF8, KLHL3, KLHL40, KLHL41, KLHL9, KMT2B, KMT2D, KNL1, KPNA7, KPTN, KRAS, KRIT1, KRT5,  KY, L1CAM, L2HGDH, LAMA1, LAMA2, LAMA4, LAMB1, LAMB2, LAMC3, LAMP2, LARGE, LARGE1, LARS, LARS2, LAS1L, LBR, LCA5, LDB3, LDHA, LDLR, LDLRAP1, LGI1, LHX3, LIAS,  LIG4, LIMS2, LINS1, LIPA,  LIPC, LIPT1, LITAF, LMBRD1, LMNA, LMNB1, LMNB2, LMOD3, LPIN1,  LPL,   LRAT, LRP4, LRP5, LRPPRC, LRRK2, LRSAM1, LUM, LYRM4, LYRM7, LYST, MAG, MAGT1, MAMLD1, MAN1B1, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, MAP3K20, MAPK10, MAPT, MARK2, MARK4, MARS, MARS2, MAT1A, MATR3, MBD5, MBOAT7, MBTPS2, MCCC1, MCCC2, MCEE, MCOLN1, MCPH1, MDH2, ME2, MECP2, MECR, MED12, MED13, MED17, MED23, MED25, MEF2C, MEGF10, MEN1, MET, METTL23, MFF, MFN2, MFSD2A, MFSD8, MGAT2, MGME1, MGST3, MICU1, MID1, MID2, MIP, MIPEP, MIR17HG, MKKS, MKS1, MLC1, MLH1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MME, MNX1, MOCS1, MOCS2, MOGS, MORC2, MPC1, MPDU1, MPDZ, MPI, MPO, MPV17, MPZ, MRAP, MRE11, MRE11A, MRPL12, MRPL3, MRPL44, MRPS16, MRPS22, MRPS23, MRRF, MS4A4A, MS4A6E, MSH2, MSH6, MSMO1, MSRB3, MSTN, MTFMT, MTHFR, MTM1, MTMR14, MTMR2, MTO1, MTOR, MTPAP, MTR, MTRR, MTTP, MUSK, MUT, MUTYH, MVK, MYBPC1, MYBPC3, MYCN, MYF6, MYH11, MYH14, MYH2, MYH3, MYH6, MYH7, MYH8, MYL2, MYL3, MYLK2, MYO5A, MYO7A, MYO9A, MYOT, MYOZ2, MYPN, NAA10, NACC1, NADK2, NAGA, NAGLU, NAGS, NALCN, NARS2, NAXE, NBAS, NBN, NDE1, NDP, NDRG1, 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, NEB, NECAP1, NEDD4L, NEFH, NEFL, NEGR1, NEK1, NEK8, NEK9, NEU1, NEUROD1, NEUROG3, NEXMIF, NEXN, NF1, NF2, NFIX, NFS1, NFU1, NGF, NGLY1, NHEJ1, NHLRC1, NHP2, NHS, NIN, NIPA1, NIPBL, NIPSNAP1, NIPSNAP3, NKX2-1, NKX2-5, NKX2-6, NKX6-2, NLGN3, NLGN4X, NME8, NODAL, NOL3, NOP56, NOTCH3, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NPL, NPPA, NPRL2, NPRL3, NR2E1, NR2F1, NR3C2, NRAS, NRXN1, NSD1, NSDHL, NSMCE2, NSUN2, NSUN3, NT5C2, NTHL1, NTNG1, NTRK1, NTRK2, NUBPL, NUP62, NUS1, OAT, OBFC1, OCLN, OCRL, OFD1, OGDH, OGG1, OGT,  OPA1, OPA3, OPHN1, OPTN, ORAI1, ORC1, ORC4, ORC6, OTC,  OTX2, OXCT1, PABPN1, PACS1, PACS2, PAFAH1B1, PAH, PAK3, PANK2, PARK2, PARK7, PARP10, PARS2, PAX4, PAX6, PC, PCBD1, PCCA, PCCB, PCDH15, PCDH19, PCDH9, PCK2, PCLO, PCNT, PCSK9, PDCD10, PDE10A, PDE4D, PDE6D, PDE8B, PDGFB, PDGFRB, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PDX1, PDYN, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PFN1, PGAM2, PGAP1, PGAP2, PGAP3, PGK1, PGM1, PHC1, PHF6, PHF8, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PHOX2A, PHOX2B, PHYH, PI4KA, PICALM, PIEZO2, PIGA, PIGG, PIGL, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGT, PIGV, PIGW, PIGY, PIK3CA, PIK3R2, PIK3R5, PINK1, PIP5K1B, PIP5K1C, PKD2, PKHD1, PKLR, PKP2, PLA2G6, PLAA, PLCB1, PLCG2, PLEC, PLEKHG2, PLEKHG5, PLK4, PLN, PLOD2, PLP1, PLPBP, PMM2, PMP2, PMP22, PMPCA, PMS2, PNKD, PNKP, PNPLA2, PNPLA4, PNPLA6, PNPO, PNPT1, POGLUT1, POLG, POLG2, POLH, POLR1C, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PON3, PORCN, POU1F1, PPA2, PPARG, PPM1K, PPOX, PPP1R15B, PPP2R2B, PPP2R5B, PPP2R5C, PPP2R5D, PPP3CA, PPT1, PPT2, PQBP1, PRDM12, PRDM8, PREPL, PRICKLE1, PRICKLE2, PRKAG2, PRKAR1A, PRKCG, PRKN, PRKRA, PRMT7, PRNP, PRODH, PROP1, PRPH, PRPH2, PRPS1, PRRT2, PRSS12, PRUNE1, PRX, PSAP, PSAT1, PSEN1, PSEN2, PSPH, PTCD1, PTCH1, PTCHD1, PTEN, PTF1A, PTK2B, PTPN11, PTRF, PTS, PURA, PUS1, PVRL2, PYCR1, PYCR2, PYGL, PYGM, PYROXD1, QARS, QDPR, QRSL1, RAB18, RAB29, RAB38, RAB39B, RAB3GAP, 1, RAB3GAP, 2, RAB40AL, RAB7A, RAD21, RAF1, RAI1, RANBP2, RAPSN, RARS, RARS2, RASA1, RASA2, RAX2, RB1, RBBP8, RBCK1, RBFOX1, RBFOX3, RBM10, RBM20, RBM7, RD3, RDH12, RECQL4, REEP1, REEP2, RELN, RET, RETREG1, RFT1, RFX6, RHOBTB2, RIN2, RIN3, RIT1, RMND1, RMRP, RNASEH1, RNASEH2, A, RNASEH2, B, RNASEH2, C, RNASEL, RNASET2, RNF125, RNF135, RNF170, RNF216, ROGDI, ROR2, RORB, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPIA, RPL10, RPL35A, RPS6KA3, RRAS, RRM2B, RSPH4A, RSPH9, RTN2, RTN4IP1, RTTN, RUBCN, RXYLT1, RYR1, RYR2, RYR3, SACS, SAMD9L, SAMHD1, SARDH, SARM1, SARS2, SASS6, SATB2, SBDS, SBF1, SBF2, SCARB2, SCN10A, SCN11A, SCN1A, SCN1B, SCN2A, SCN3A, SCN3B, SCN4A, SCN4B, SCN5A, SCN8A, SCN9A, SCNN1A, SCNN1B, SCNN1G, SCO1, SCO2, SCP2, SCYL1, SDCCAG8, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SECISBP2, SELENON, SEMA3A, SEPN1, SEPSECS, SEPT9, SERAC1, SERPINI1, SETBP1, SETD2, SETD5, SETX, SFXN4, SGCA, SGCB, SGCD, SGCE, SGCG, SGSH, SGTA, SH3TC2, SHANK2, SHANK3, SHH, SHOC2, SHROOM4, SIGMAR1, SIK1,  SIL1, SIX3, SLC12A3, SLC12A5, SLC12A6, SLC13A5, SLC16A1, SLC16A2, SLC17A5, SLC18A3, SLC19A2, SLC19A3, SLC1A2, SLC1A3, SLC1A4, SLC20A2, SLC22A5, SLC24A4, SLC25A1, SLC25A12,  SLC25A13, SLC25A15, SLC25A19, SLC25A20,  SLC25A22, SLC25A26, SLC25A3, SLC25A38, SLC25A4, SLC25A46, SLC2A1, SLC2A2, SLC30A10, SLC33A1, SLC35A1, SLC35A2, SLC35C1, SLC35G2, SLC37A4, SLC39A14, SLC39A8, SLC46A1, SLC4A10, SLC4A4, SLC52A2, SLC52A3, SLC5A2, SLC5A5, SLC5A7, SLC6A1, SLC6A3, SLC6A4, SLC6A5, SLC6A8, SLC6A9, SLC7A7, SLC9A6, SLC9A9, SLCO1B1, SLX4, SMAD3, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SMCHD1, SMG6, SMN1, SMN2, SMPD1, SMS, SNAP25, SNAP29, SNCA, SNCB, SNIP1, SNORD11, 8, SNRPN, SNTA1, SNX14, SOBP, SOD1, SOD2, SORL1, SOS1, SOX10, SOX11, SOX18, SOX2, SOX3, SOX5, SPART, SPAST, SPATA5, SPATA7, SPECC1L, SPEG, SPG11, SPG20, SPG21, SPG7, SPR, SPRED1, SPTAN1, SPTBN2, SPTLC1, SPTLC2, SQSTM1, SRCAP, SRD5A3, SRGAP2, SRPX2, SSR4, ST3GAL3, ST3GAL5, ST7, STAC3, STAMBP, STAR, STAT5B, STIL, STIM1, STK11, STK3, STN1, STRA6, STRADA, STT3A, STT3B, STUB1, STX11, STX1B, STXBP1, SUCLA2, SUCLG1, SUGCT, SUMF1, SUOX, SURF1, SYN1, SYNE1, SYNE2, SYNGAP1, SYNJ1, SYP, SYT14, SYT2, SZT2, TACO1, TAF1, TAF15, TAF2, TALDO1, TANGO2, TARDBP, TARS2, TAZ, TBC1D20, TBC1D24, TBC1D4, TBC1D7, TBCD, TBCE, TBCK, TBK1, TBL1XR1, TBP, TBX1, TCAP, TCF4, TCIRG1, TCTN1, TCTN2, TCTN3, TDGF1, TDP1, TECPR2, TECR, TEK, TFAM, TFG, TGFB3, TGFBR1, TGFBR2, TGIF1, TGM6, TH, THAP1, THOC2, THOC6, THRB, TIA1, TIMM50, TIMM8A, TINF2, TK2, TMCO1, TMEM106B, TMEM126A, TMEM126B, TMEM138, TMEM165, TMEM199, TMEM216, TMEM230, TMEM231, TMEM237, TMEM240, TMEM43, TMEM5, TMEM67, TMEM70, TMLHE, TMPO, TMTC3, TNK2, TNNC1, TNNI2, TNNI3, TNNT1, TNNT2, TNNT3, TNPO3, TOE1, TOMM40, TOPORS, TOR1A, TOR1AIP1, TP53, TP53INP1, TPH2, TPI1, TPK1, TPM1, TPM2, TPM3, TPP1, TRAIP, TRAPPC11, TRAPPC9, TRDN, TREM2, TREX1, TRHR, TRIM2, TRIM32, TRIM54, TRIM63, TRIP12, TRIP4, TRIT1, TRMT10A, TRMT10C, TRMT5, TRMU, TRPA1, TRPM4, TRPM6, TRPM7, TRPV4, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TSHR, TSPAN7, TTBK2, TTC19, TTC21B, TTC37, TTC8, TTI2, TTN, TTPA, TTR, TUBA1A, TUBA4A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP4, TUBGCP6, TUFM, TULP1, TUSC3, TWIST1, TWNK, TXN2, TYMP, TYROBP, UBA1, UBA5, UBE2A, UBE3A, UBQLN2, UBR1, UCHL1, UGT1A1, UMOD, UNC13A, UNC80, UNG, UPB1, UPF3B, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, UROC1, USH1C, USH1G, USH2A, USP8, USP9X, VAC14, VAMP1, VAPB, VARS2, VCL, VCP, VDAC1, VEGFA, VHL, VIPAS39, VLDLR, VMA21, VPS11, VPS13A, VPS13B, VPS13C, VPS33A, VPS33B, VPS35, VPS37A, VPS53, VRK1, WASHC5, WDPCP, WDR13, WDR19, WDR26, WDR35, WDR45, WDR48, WDR62, WDR73, WDR81, WFS1, WHRN, WNK1, WNK4, WNT5A, WT1, WWOX, XK, XPA, XPC, XPNPEP3, XPR1, XRCC4, YARS, YARS2, YME1L1, YWHAE, YWHAG, YY1, ZBTB16, ZBTB24, ZBTB42, ZC4H2, ZCCHC12, ZCWPW1, ZDHHC15, ZDHHC9, ZEB2, ZFP57,  ZFR, ZFYVE26, ZFYVE27, ZIC2, ZIC3, ZMPSTE24, ZMYM3, ZMYND11, ZNF335, ZNF41, ZNF423, ZNF507, ZNF674, ZNF711, ZNF804A, ZNF81, ZNHIT6.

Показания к исследованию:

• Проводится как исследование первой линии у пациентов с  подозрениями на неврологические расстройства, связанные с поражением центральной и периферических нервных систем;
• Проведение дифференциальной диагностики нервно-мышечных заболеваний с миопатиями.

Ограничения метода:

• Не выявляет генетические варианты в повторяющихся вариантах генома (гены, имеющие псевдогены, паралоги, сегментарные повторы).
• Точность метода снижена в сложных участках генома (GC богатые и poly-n участки).