Тест 61.
Аутизъм
Цялостно екзомно секвениране (WES) и анализ на панел от гени, асоциирани с аутизъм
Характеристика на теста: включва кодиращите последователности на гени, асоциирани с аутизъм
Броя на гените се актуализира към момента на извършването на анализа
Метод: Новогенерационно секвениране.
Методът включва двупосочно ДНК секвениране на всички кодиращи екзони и интрон-екзонни граници на прицелните гени.
Лабораторията предлага секвениране на единичен екзон или двойка екзони при родственици на пациенти за определяне на носителския статус в случаите, когато мутацията е известна (Тестове № 203 и 204).
Чувствителност на теста: зависи от съдържанието на GC и АТ, както и от наличието на сегментно дуплицирани гени.
Какво включва тестът?
· Изолиране на ДНК и съхраняване на пробата.
· Паралелно секвениране включващо двупосочно ДНК секвениране на всички кодиращи екзони и интрон-екзонни граници на прицелните гени
· Биоинформатичен анализ на секвенционните данни. За всеки пациент се анализират само данните за гена(ите) от интерес.
· Оформяне на писмен резултат от генетичния тест.
· Диагностична интерпретация на резултатите и генетично консултиране.
Биологичен материал: Венозна кръв или ДНК изолирана от венозна кръв.
За повече информация, моля посетете раздела „Изисквания към биологичния материал и информация за транспортиране“.
ABAT, ABCA10, ABCA13, ABCA7, ABCD1, ACE, ACHE, ACSL4, ACTB, ACTG1, ACTN4, ADA, ADAR, ADCY3, ADCY5, ADGRG1, ADK, ADNP, ADORA2A, ADORA3, ADRB2, ADSL, AFF2, AGAP1, AGAP2, AGBL4, AGMO, AGO1, AGTR2, AHDC1, AHI1, AIMP1, AKAP9, AKT3, ALDH18A1, ALDH5A1, ALDH7A1, ALG11, ALG13, ALX4, AMPD1, AMPD2, AMT, ANK2, ANK3, ANKRD11, ANKS1B, ANXA1, AP1S1, AP1S2, AP3B1, AP4B1, AP4M1, APBA2, APBB1, APH1A, AR, ARFGEF2, ARHGAP11B, ARHGAP32, ARHGAP5, ARHGEF10, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARL13B, ARNT2, ARX, ASAH1, ASAP2, ASCL1, ASH1L, ASMT, ASPM, ASTN2, ASXL1, ASXL3, ATP10A, ATP13A2, ATP1A1, ATP1A3, ATP2B2, ATP6AP2, ATP6V0A2, ATP7A, ATP8A2, ATR, ATRX, AUTS2, AVPR1A, AVPR1B, AZGP1, B3GALNT2, B4GAT1, B9D1, B9D2, BAZ2B, BBS4, BCAP31, BCAS1, BCKDK, BCL11A, BCOR, BCS1L, BDNF, BICDL1, BIRC6, BLOC1S3, BLOC1S6, BRAF, BRCA2, BRD4, BRWD3, BST1, BTAF1, C12orf57, C12orf65, C15orf62, C19orf12, C3orf58, C4B, CA2, CA6, CA8, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1F, CACNA1G, CACNA1H, CACNA1I, CACNA2D1, CACNA2D3, CACNB2, CADM1, CADM2, CADPS2, CAMK2A, CAMK4, CAMTA1, CAPN12, CAPRIN1, CARD11, CASC4, CASK, CBS, CC2D1A, CC2D2A, CCDC40, CCDC88C, CCDC91, CCNG1, CCT4, CD276, CD38, CD99L2, CDC42BPB, CDH10, CDH11, CDH13, CDH15, CDH22, CDH8, CDH9, CDK5RAP2, CDKL5, CDON, CECR2, CELF4, CELF6, CENPF, CENPJ, CEP135, CEP152, CEP290, CEP41, CEP63, CGNL1, CHD1, CHD2, CHD3, CHD7, CHD8, CHMP1A, CHRM3, CHRNA7, CHRNB3, CIB2, CIC, CLASP1, CLCN4, CLIC2, CLN8, CLTCL1, CMIP, CNGB3, CNKSR2, CNOT3, CNR1, CNTN3, CNTN4, CNTN5, CNTN6, CNTNAP2, CNTNAP3, CNTNAP4, CNTNAP5, COASY, COL28A1, COL4A1, CPEB4, CPLANE1, CPT2, CRADD, CRBN, CREBBP, CRIPT, CRPPA, CSMD1, CSNK1E, CSPP1, CTC1, CTCF, CTNNA3, CTNNB1, CTNND2, CTTNBP2, CUL3, CUL4B, CUL7, CUX1, CUX2, CX3CR1, CYB5R3, CYFIP1, CYLC2, CYP11B1, CYP27A1, DAGLA, DAPP1, DARS2, DCAF17, DCX, DDC, DDX3X, DDX53, DEAF1, DENR, DHCR7, DIP2A, DIP2C, DISC1, DIXDC1, DKC1, DLG1, DLG3, DLGAP1, DLGAP2, DLGAP3, DLX2, DLX6, DMXL2, DNAH10, DNAH17, DNAH3, DNER, DNM1, DNMT3A, DOCK1, DOCK4, DOCK8, DPP10, DPP4, DPP6, DPYD, DPYSL2, DPYSL3, DRD1, DRD2, DRD3, DSCAM, DST, DTNBP1, DUSP15, DVL3, DYDC1, DYDC2, DYM, DYNC1H1, DYRK1A, EDN3, EDNRB, EEF1A2, EFR3A, EFTUD2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF3G, EIF4E, ELAVL2, ELAVL3, ELOVL2, ELOVL4, ELP4, EMSY, EMX2, EN2, EP300, EP400, EPB41L1, EPC2, EPHB2, EPPK1, ERBIN, ERG, ERMN, ESR2, ESRRB, ETFB, EXOC3, EXOC5, EXOC6, EXOC6B, EXOSC3, EXT1, FABP5, FAM126A, FAM47A, FAM92B, FAN1, FANCB, FAT1, FBN1, FBXO11, FBXO33, FBXO40, FCRL6, FEZF2, FGA, FGD1, FGFR2, FGFR3, FH, FHIT, FKRP, FKTN, FLNA, FLVCR1, FMR1, FOLR1, FOXC1, FOXG1, FOXL2, FOXP1, FOXP2, FRK, FTL, FTO, FTSJ1, G6PD, GABBR2, GABRA4, GABRB3, GABRG3, GAD1, GALNT13, GALNT14, GALNT8, GAMT, GAS2, GATM, GCK, GDA, GDI1, GDNF, GFAP, GGNBP2, GIGYF1, GIGYF2, GJC2, GK, GLI2, GLIS1, GLO1, GLRA2, GLRB, GMPPA, GMPPB, GNAO1, GNAS, GNB1L, GPC3, GPC4, GPC6, GPD2, GPHN, GPR37, GPR85, GPT2, GPX1, GRIA1, GRIA3, GRID1, GRID2, GRID2IP, GRIK2, GRIK3, GRIK4, GRIK5, GRIN1, GRIN2A, GRIN2B, GRIP1, GRM5, GRM7, GSTM1, GTF2I, GUCY1A2, HBB, HCCS, HCFC1, HCN1, HDAC4, HDAC8, HDLBP, HECTD4, HECW2, HEPACAM, HERC2, HIVEP3, HLA-A, HLA-B, HLA-DRB1, HLA-G, HMGN1, HNRNPH2, HNRNPU, HOMER1, HOXA1, HPRT1, HPS1, HPS4, HPS5, HPS6, HRAS, HS3ST5, HSD11B1, HSD17B10, HSPD1, HTR1B, HTR3A, HTR3C, HUWE1, HYDIN, ICA1, IDS, IER3IP1, IFIH1, IGBP1, IGF1, IGF1R, IL1R2, IL1RAPL1, IL1RAPL2, ILF2, IMMP2L, INPP1, INPP5E, INTS6, INVS, IQGAP3, IQSEC2, IRF2BPL, IRX5, ITGA7, ITGB3, ITPR1, JAG1, JARID2, JMJD1C, KANK1, KAT2B, KAT6A, KAT6B, KATNAL1, KATNAL2, KATNB1, KCNB1, KCNC1, KCNC3, KCND2, KCND3, KCNJ10, KCNJ15, KCNK7, KCNK9, KCNMA1, KCNQ2, KCNQ3, KCTD13, KDM4B, KDM4C, KDM5B, KDM5C, KDM6A, KDM6B, KHDRBS2, KIAA1586, KIF11, KIF13B, KIF14, KIF1A, KIF5C, KIF7, KIRREL3, KLF16, KMT2A, KMT2C, KMT2D, KMT2E, KMT5B, KNL1, KRAS, KRR1, KRT26, L1CAM, LAMA1, LAMA2, LAMB1, LAMC3, LAMP2, LARGE1, LEO1, LEP, LILRB2, LIN7B, LINS1, LMX1B, LRBA, LRFN2, LRFN5, LRP2, LRRC1, LRRC4, LZTR1, LZTS2, MACROD2, MAGEL2, MAGT1, MAN1B1, MAOA, MAOB, MAPK3, MARK1, MBD1, MBD3, MBD4, MBD5, MBD6, MBOAT7, MBTPS2, MCCC2, MCM4, MCM6, MCPH1, MDGA2, MECP2, MED12, MED13, MED13L, MED17, MED23, MEF2C, MEGF10, MEGF11, MEIS2, MET, MFRP, MFSD2A, MGAT2, MIB1, MID1, MIR137, MITF, MKKS, MKL2, MKS1, MLC1, MNT, MPDZ, MPP6, MSANTD2, MSMO1, MSR1, MTF1, MTHFR, MTM1, MTOR, MTR, MUC12, MUC4, MYCN, MYH10, MYH4, MYO16, MYO1E, MYO5A, MYO5C, MYO9B, MYT1L, NAA10, NAA15, NAALADL2, NACC1, NAGA, NALCN, NAV2, NBEA, NCKAP1, NCKAP5, NCOR1, NDE1, NDP, NDST1, NDUFA1, NDUFA5, NECTIN1, NEO1, NEXMIF, NF1, NFIA, NFIB, NFIX, NHEJ1, NHS, NINL, NIPA1, NIPA2, NIPBL, NLGN1, NLGN2, NLGN3, NLGN4X, NLGN4Y, NOTCH2, NOTCH2NL, NPAS2, NPHP1, NPHP3, NR1D1, NR2F1, NR3C2, NR4A2, NRCAM, NRP2, NRXN1, NRXN2, NRXN3, NSD1, NSDHL, NSMCE3, NSUN2, NTNG1, NTRK1, NTRK3, NUAK1, NUDCD2, NUP133, NXF5, NXPH1, OCLN, OCRL, ODF3L2, OFD1, OPHN1, OR1C1, OR2M4, OR2T10, OR52M1, ORC1, OTC, OTUD7A, OTX1, OXT, OXTR, P2RX5, P4HA2, PAFAH1B1, PAH, PAK2, PAK3, PANK2, PARD3B, PATJ, PAX3, PAX5, PAX6, PCDH10, PCDH11X, PCDH15, PCDH19, PCDH9, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHAC1, PCDHAC2, PCNT, PDCD1, PDE1C, PDE6D, PDHA1, PER1, PER2, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGK1, PHB, PHC1, PHF2, PHF3, PHF6, PHF8, PHIP, PHRF1, PIGA, PIGL, PIGN, PIGO, PIGV, PIK3CG, PIK3R2, PITX1, PITX2, PLA2G6, PLAUR, PLCB1, PLK4, PLN, PLP1, PLXNA3, PLXNA4, PLXNB1, PNKP, PNPLA7, POGZ, POLA2, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PON1, PORCN, POT1, PPFIA1, PPM1D, PPOX, PPP1R1B, PPP2R1B, PPP2R5D, PPT1, PQBP1, PREX1, PRICKLE1, PRICKLE2, PRKCB, PRKDC, PRKN, PRODH, PRPF39, PRPS1, PRSS12, PRUNE2, PSD3, PTBP2, PTCH1, PTCHD1, PTEN, PTGS2, PTK7, PTPN11, PTPRB, PTPRC, PTPRT, PTS, PURA, PXDN, PYCR1, PYCR2, PYHIN1, QARS1, QRICH1, RAB11FIP5, RAB18, RAB2A, RAB39B, RAB3GAP1, RAB3GAP2, RAB43, RAD21, RAD21L1, RAI1, RANBP17, RAPGEF4, RARS2, RASSF5, RBBP8, RBFOX1, RBM10, RBM27, REEP3, RELN, RERE, RET, RFX3, RGS7, RHOXF1, RIMS1, RIMS3, RIT2, RNASEH2A, RNASEH2B, RNASEH2C, RNF135, RNF38, ROBO2, ROGDI, ROR2, RPGRIP1L, RPL10, RPS6KA2, RPS6KA3, RXYLT1, SAE1, SALL1, SAMD11, SAMHD1, SASH1, SASS6, SATB2, SBF1, SCFD2, SCN1A, SCN2A, SCN4A, SCN8A, SCN9A, SCO2, SCP2, SDC2, SDCCAG8, SDHA, SEMA5A, SEPSECS, SERPINE1, SETBP1, SETD1B, SETD2, SETD5, SETDB1, SETDB2, SEZ6L2, SGCA, SGSM3, SHANK1, SHANK2, SHANK3, SHH, SHOX, SHROOM4, SIL1, SIN3A, SIX3, SLC12A5, SLC16A2, SLC1A1, SLC22A15, SLC22A9, SLC24A2, SLC25A12, SLC25A15, SLC25A19, SLC25A27, SLC25A39, SLC27A4, SLC29A4, SLC2A1, SLC35A2, SLC35A3, SLC35B1, SLC38A10, SLC4A10, SLC4A4, SLC6A1, SLC6A3, SLC6A4, SLC6A8, SLC7A3, SLC7A5, SLC7A7, SLC9A6, SLC9A9, SLCO1B3, SLITRK5, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SMC1A, SMC3, SMG6, SMPD1, SMS, SNAI2, SNAP25, SNAP29, SND1, SNIP1, SNTG2, SOBP, SOD1, SOX10, SOX2, SOX3, SPARCL1, SPAST, SPP2, SRCAP, SRD5A3, SRGAP3, SRSF11, SSPO, SSRP1, ST3GAL3, ST7, ST8SIA2, STAMBP, STIL, STK39, STRA6, STX1A, STXBP1, STXBP5, STYK1, SYAP1, SYN1, SYN2, SYNCRIP, SYNE1, SYNGAP1, SYNJ1, SYP, SYT17, TAF1C, TAF2, TAF6, TANC2, TAOK2, TBC1D20, TBC1D24, TBC1D31, TBC1D5, TBCE, TBL1X, TBL1XR1, TBR1, TBX1, TCF20, TCF4, TCF7L2, TCTN1, TCTN2, TCTN3, TDO2, TECR, TECTA, TERB2, TERF2, TET2, TFAP2A, TGIF1, THBS1, THRA, TIMM8A, TINF2, TLK2, TM4SF19, TMCO1, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TMLHE, TMPRSS9, TNRC6B, TOP3B, TPO, TRAF7, TRAPPC9, TREX1, TRIM33, TRIO, TRIP12, TRMT10A, TRPC6, TRPM1, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSHZ3, TSPAN17, TSPAN7, TSPOAP1, TTC21B, TTC25, TTI2, TTN, TUBA1A, TUBA8, TUBB2B, TUBB3, TUBB4A, TUBGCP4, TUBGCP5, TUBGCP6, TUSC3, TYR, UBE2A, UBE2H, UBE3A, UBE3C, UBN2, UBR1, UBR5, UNC13A, UNC79, UNC80, UPF3B, USH2A, USP15, USP45, USP7, USP9X, USP9Y, VASH1, VDR, VIL1, VLDLR, VPS13B, VPS53, VRK1, VSIG4, WAC, WDFY3, WDR45, WDR62, WDR81, WNK3, WNT1, WNT5A, WWOX, XPO1, YEATS2, YTHDC2, YWHAE, ZBTB16, ZBTB18, ZBTB20, ZC3H4, ZDHHC9, ZEB2, ZFYVE26, ZIC2, ZIC3, ZMYND11, ZNF18, ZNF292, ZNF335, ZNF385B, ZNF41, ZNF423, ZNF462, ZNF517, ZNF548, ZNF559, ZNF626, ZNF711, ZNF713, ZNF774, ZNF804A, ZNF81, ZNF827, ZWILCH