• Kemik İliği Yetmezliği (Panel)

    ABCB7, AK2, ALAS2, ANKRD26, BRCA2, BRIP1, CASP10, CBL, CDAN1, CSF3R, CXCR4, DKC1, ELANE, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, G6PC3, GATA1, GFI1, HAX1, HOXA11, JAGN1, KLF1, LYST, MASTL, MPL, MYH9, NBN, NHP2, NOP10, PALB2, PARN, PRF1, PUS1, RAC2, RAD51C, RPL11, RPL15, RPL26, RPL27, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, RTEL1, SBDS, SEC23B, SLC19A2, SLC25A38, SLC46A1, SLX4, SRP72, STX11, STXBP2, TCN2, TERC, TERT, TINF2, UBE2T, VPS45, WAS, WRAP53, XRCC2


    Kemik İliği Yetmezliği (Delesyon&Duplikasyon)

    PALB2, FANCD2, CXCR4, FANCB, RPL35A, RPS17, RPL11, DKC1, TERC, TERT, RPL5, STX11, BRIP1, RPS19, MYH9, RPS26, PRF1, BRCA2, RAD51C, FANCA


    Katarakt (Panel)

    AGK, BCOR, BFSP1, BFSP2, CHMP4B, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, EPHA2, EYA1, FOXC1, FOXE3, FTL, FYCO1, GALK1, GCNT2, GJA3, GJA8, HSF4, LEMD2, LIM2, LSS, MAF, MIP, NHS, P3H2, PAX6, PITX3, SIPA1L3, SLC16A12, TDRD7, UNC45B, VIM, VSX2, WFS1


    Katarakt (Delesyon&Duplikasyon)

    WFS1, PAX6, EYA1, FOXC1


    Kronik Granülomatöz Hastalık (Panel)

    CYBA, CYBB, NCF1, NCF2, NCF4


    Kombine Pituiter Hormon Eksikliği (Panel)

    GHR, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1


    Kombine Pituiter Hormon Eksikliği (Delesyon&Duplikasyon)

    GHR, HESX1, POU1F1, PROP1, LHX3, LHX4


    Kapsamlı Distoni (Panel)

    ADCY5, ANO3, ARSA, ATM, ATP1A3, ATP7B, CACNA1B, CIZ1, COL6A3, DRD2, GCDH, GCH1, GNAL, HPCA, KCNMA1, KCTD17, PANK2, PARK2, PLA2G6, PNKD, PRKRA, PRRT2, RELN, SGCE, SLC2A1, SLC6A3, SPR, TH, THAP1, TIMM8A, TOR1A, TUBB4A


    Kapsamlı Distoni (Delesyon&Duplikasyon)

    PARK2, PLA2G6, PANK2, ATP7B, ATM, THAP1, PRKRA, ATP1A3, GCH1, SGCE, SLC2A1, TOR1A, TH


    Kapsamlı Epilepsi (Panel)

    ACY1, ADSL, ALDH7A1, AMT, ARHGEF15, ARHGEF9, ARX, ASAH1, CACNA1H, CACNB4, CDKL5, CERS1, CHRNA2, CHRNA4, CHRNB2, CLCN2, CNTNAP2, CPA6, CPT2, CSTB, DEPDC5, DRD2, EFHC1, EPM2A, FOLR1, FOXG1, GABRA1, GABRB3, GABRD, GABRG2, GAMT, GCSH, GLDC, GOSR2, GRIN2A, GRIN2B, JRK, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, LGI1, MAPK10, MBD5, MECP2, MEF2C, MFSD8, MTHFR, MTOR, NEDD4L, NEU1, NHLRC1, NOL3, NRXN1, PCDH19, PIGA, PIGO, PIGV, PLCB1, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRICKLE2, PRRT2, QARS, RBFOX1, RBFOX3, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SGCE, SLC13A5, SLC19A3, SLC25A12, SLC25A22, SLC2A1, SLC35A2, SLC6A8, SLC9A6, SPTAN1, SRPX2, ST3GAL3, ST3GAL5, STXBP1, SYN1, SYNGAP1, SZT2, TBC1D24, TBCE, TCF4, TPP1, TREX1, TSC1, TSC2, UBE3A, WWOX, ZEB2


    Kapsamlı Pulmoner Hastalık (Panel)

    ABCA3, ACVRL1, AP3B1, ASCL1, BDNF, BLOC1S3, BLOC1S6, BMPR2, CCDC39, CCDC40, CFTR, CSF2RA, CSF2RB, DKC1, DNAAF1, DNAAF2, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DOCK8, DTNBP1, EDN3, EFEMP2, ELMOD2, ELN, ENG, FBLN5, FBN1, FLCN, FOXF1, GDNF, HPS1, HPS3, HPS4, HPS5, HPS6, LTBP4, MUC5B, NKX2-1, NME8, NOP10, PARN, PHOX2B, RET, RSPH1, RSPH4A, RSPH9, RTEL1, SCNN1A, SCNN1B, SCNN1G, SERPINA1, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SMAD9, STAT3, TERC, TERT, TINF2, TSC1, TSC2


    Kapsamlı Pulmoner Hastalık (Delesyon&Duplikasyon)

    ACVRL1, BMPR2, CFTR, DKC1, DNAH5, DNAI1, DOCK8, ELN, ENG, FOXF1, STAT3, TERC, TERT, TSC1, TSC2


    Kapsamlı SCID (Panel)

    ADA, AK2, CD3D, CD3E, CD247, DCLRE1C, FOXN1, IL2RG, IL7R, JAK3, LIG4, NHEJ1, ORAI1, PNP, PTPRC, RAC2, RAG1, RAG2, RMRP, STAT5B, STIM1, TBX1, ZAP70


    Kapsamlı SCID (Delesyon&Duplikasyon)

    TBX1, RAG2, DCLRE1C, STAT5B


    Koni ve Koni-Rod Distrofisi (Panel)

    ABCA4, ADAM9, AIPL1, BEST1, C8ORF37, CABP4, CACNA1F, CACNA2D4, CDHR1, CERKL, CNGB3, CNNM4, CRX, GUCA1A, GUCY2D, KCNV2, PDE6C, PDE6H, PITPNM3, PROM1, PRPH2, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RPGR, RPGRIP1, SEMA4A, UNC119


    Koni ve Koni-Rod Distrofisi (Delesyon&Duplikasyon)

    PRPH2, GUCY2D, CRX, RPGR, BEST1, ABCA4, RPGRIP1, AIPL1


    Konjenital Adrenal Hiperplazi (Panel)

    CYP21A2, CYP17A1, CYP11B1, HSD3B2, POR, STAR


    Konjenital Diseritropoetik Anemi (Panel)

    C15orf41, CDAN1, GATA1, KLF1, SEC23B


    Konjenital Glikozilasyon Hastalığı (Panel)

    ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ATP6V0A2, B4GALT1, COG1, COG4, COG5, COG6, COG7, COG8, DDOST, DHDDS, DOLK, DPM1, DPM2, DPM3, GMPPA, GNE, LARGE, MAN1B1, MGAT2, MOGS, MPDU1, MPI, NGLY1, PGM1, PMM2, RFT1, SLC35A1, SLC35A2, SLC35C1, SRD5A3, SSR4, STT3A, STT3B, TMEM165, TUSC3


    Konjenital Kalp Kusurları (Panel)

    CFC1, CITED2, CRELD1, FOXH1, GATA4, GATA6, GDF1, NKX2-5, NOTCH1, TBX1, TBX20, ZFPM2


    Konjenital İktiyoz (Panel)

    ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, LIPN, NIPAL4, PNPLA1, TGM1


    Konjenital Miyastenik Sendrom (Panel)

    AGRN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, GFPT1, LAMB2, MUSK, PLEC, RAPSN, SCN4A


    Konjenital Miyopati (Panel)

    ACTA1, BIN1, CCDC78, CFL2, CNTN1, DNM2, FHL1, KBTBD13, MAMLD1, MTM1, MTMR14, MYF6, MYH7, NEB, RYR1, SEPN1, TNNT1, TPM2, TPM3


    Konjenital Nötropeni (Panel)

    CSF3R, CXCR4, ELANE, G6PC3, GFI1, HAX1, JAGN1, RAC2, SBDS, VPS45, WAS


    Konjenital Sideroblastik Anemi (Panel)

    ABCB7, ALAS2, GLRX5, PUS1, SLC19A2, SLC25A38, TRNT1, YARS2


    Kraniosinostoz ve Kraniyofasiyal Bozukluklar (Panel + Delesyon&Duplikasyon)

    EFNB1, ERF, FGFR1, FGFR2, FGFR3, FREM1, GLI3, IFT43, IFT122, IL11RA, MEGF8, MSX2, POR, RAB23, RECQL4, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, WDR19, WDR35


    Kraniosinostoz ve Kraniyofasiyal Bozukluklar (Delesyon&Duplikasyon)

    MSX2, TGFBR1, EFNB1, FGFR1, POR, FGFR3, FGFR2, GLI3, TGFBR2, TWIST1


    Kutis Laksa (Panel)

    ALDH18A1, ATP6V0A2, ATP7A, EFEMP2, ELN, FBLN5, LTBP4, PYCR1


    Kadın infertilitesi (Panel + Delesyon&Duplikasyon)

    BMP15, CYP21A2, FSHR, LHB, LHCGR, TUBB8, ZP1


    Küresel Kısırlık (Panel)

    AR, CATSPER1, CFTR, FSHB, FSHR, HESX1, LHB, LHCGR, NR5A1, POU1F1, SRY


    Küresel Kısırlık (Delesyon&Duplikasyon)

    AR, CFTR, HESX1, NR5A1, POU1F1


    Kalıtsal Hemorajik Telenjektazi (Panel)

    ACVRL1, ADAM17, ENG, GDF2, PTPN14, RASA1, SMAD4


    Kallmann Sendromu ve Hipogonadotropik Hipogonadizm (Panel)

    ANOS1, CHD7, DUSP6, FEZF1, FGF17, FGF8, FGFR1, FLRT3, FSHB, GNRH1, GNRHR, HESX1, HS6ST1, IL17RD, KISS1, KISS1R, LHB, NSMF, PROK2, PROKR2, SEMA3A, SPRY4, TAC3, TACR3, WDR11


    Kallmann Sendromu ve Hipogonadotropik Hipogonadizm (Delesyon&Duplikasyon)

    CHD7, FGFR1, GNRH1, GNRHR, HESX1, ANOS1, KISS1R, PROK2, PROKR2


    Klippel-Feil Sendromu (Panel)

    GDF3, GDF6, MEOX1, MYO18B


    Ketone Body Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 5 Genes)

    ACAT1 (607809), ACAT2 (100678), HMGCL (613898), HMGCS2 (600234), OXCT1 (601424).


    Konjenital Miyopatiler (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 35 Gen)

    ACTA1 (102610), ALG2 (607905), BIN1 (601248), CCDC78 (614666), CFL2 (601443), CNTN1 (600016), COL6A1 (120220), COL6A2 (120240), COL6A3 (120250), CRYAB (123590), DNM2 (602378), FHL1 (300163), FKBP14 (614505), KBTBD13 (613727), KY (605739), LMNA (150330), MEGF10 (612453), MICU1 (605084), MTM1 (300415), MTMR14 (611089), MYF6 (159991), MYH7 (160760), MYPN (608517), NEB (161650), PYROXD1 (617220), RYR1 (180901), SEPN1 (606210), SPEG (615950), TBCD (604649), TNNT1 (191041), TPM2 (190990), TPM3 (191030), TRMT5 (611023), TTN (188840), ZC4H2 (300897).


    Konjenital Miyastenik Sendromlar (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 17 Gen)

    AGRN (103320), ALG2 (607905), CHAT (118490), CHRNA1 (100690), CHRNB1 (100710), CHRND (100720), CHRNE (100725), COLQ (603033), DOK7 (610285), DPAGT1 (191350), GFPT1 (138292), MUSK (601296), RAPSN (601592), SCN4A (603967), SLC25A1 (190315), SLC5A7 (608761), SNAP25 (600322).


    Konjenital Muskuler Distrofi (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 28 Gen)

    B3GALNT2 (610194), B3GNT1 (605517), CHKB (612395), COL6A1 (120220), COL6A2 (120240), COL6A3 (120250), DMD (300377), DNM2 (602378), DPM1 (603503), DPM2 (603564), DPM3 (605951), FHL1 (300163), FKRP (606596), FKTN (607440), GMPPB (615320), ISPD (614631), ITGA7 (600536), LAMA2 (156225), LARGE (603590), LMNA (150330), POMGNT1 (606822), C3orf39 (614828), SGK196 (615247), POMT1 (607423), POMT2 (607439), SEPN1 (606210), TCAP (604488), TMEM5 (605862).


    Konjenital Glikozilasyon Bozuklukları (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 45 Gen)

    ALG1 (605907), ALG11 (613666), ALG12 (607144), ALG13 (300776), ALG2 (607905), ALG3 (608750), ALG6 (604566), ALG8 (608103), ALG9 (606941), ATP6V0A2 (611716), B4GALT1 (137060), COG1 (606973), COG4 (606976), COG5 (606821), COG6 (606977), COG7 (606978), COG8 (606979), DDOST (602202), DHDDS (608172), DOLK (610746), DPAGT1 (191350), DPM1 (603503), DPM2 (603564), DPM3 (605951), GMPPA (615495), MAGT1 (300715), MAN1B1 (604346), MGAT2 (602616), MOGS (601336), MPDU1 (604041), MPI (154550), NGLY1 (610661), PGM1 (171900), PGM3 (172100), PMM2 (601785), RFT1 (611908), SLC35A1 (605634), SLC35A2 (314375), SLC35C1 (605881), SRD5A3 (611715), SSR4 (300090), STT3A (601134), STT3B (608605), TMEM165 (614726), TUSC3 (601385).


    Kapsamlı Oftalmopleji Sendromları (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 55 Gen + mtDNA)

    ACADS (606885), ACTA1 (102610), AFG3L2 (604581), AGRN (103320), APTX (606350), ATXN1 (601556), ATXN2 (601517), ATXN3 (607047), ATXN7 (607640), BIN1 (601248), C10ORF2 (606075), C12orf65 (613541), CHAT (118490), CHRNA1 (100690), CHRNB1 (100710), CHRND (100720), CHRNE (100725), CLPP (601119), COLQ (603033), DNM2 (602378), DOK7 (610285), EARS2 (612799), FOXE3 (601094), FOXRED1 (613622), GBA (606463), GRM1 (614831), HARS2 (600783), HCCS (300056), HSD17B4 (601860), KIF21A (608283), LARS2 (604544), C20ORF72 (615076), MPV17 (137960), MTM1 (300415), MTMR14 (611089), MUSK (601296), MYH2 (160740), OPA1 (605290), OPA3 (606580), PABPN1 (602279), POLG (174763), POLG2 (604983), RAPSN (601592), RRM2B (604712), RYR1 (180901), SCO2 (604272), SDHAF1 (612848), SEPN1 (606210), SLC19A3 (606152), SLC9A6 (300231), SPEG (615950), TPM3 (191030), TUBB3 (602661), TYMP (131222), ZNF592 (606937).


    Kapsamlı Nöropatiler (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 629 Gen + mtDNA)

    AAAS (605378), AARS (601065), ABAT (137150), ABCB7 (300135), ABCC8 (600509), ABCD1 (300371), ACO2 (100850), ACOX1 (609751), ACTA1 (102610), ACTB (102630), ACVRL1 (601284), ACY1 (104620), ADAMTS2 (604539), ADCK3 (606980), ADCY5 (600293), ADSL (608222), ADSSL1 (612498), AFG3L2 (604581), AGXT (604285), AIFM1 (300169), AIMP1 (603605), ALAD (125270), ALDH18A1 (138250), ALDH3A2 (609523), ALDH5A1 (610045), ALDH6A1 (603178), ALG2 (607905), ALS2 (606352), AMACR (604489), AMN (605799), AMPD1 (102770), AMPD2 (102771), ANG (105850), ANO5 (608662), AP1S2 (300629), AP3D1 (607246), AP4B1 (607245), AP4E1 (607244), AP4M1 (602296), AP4S1 (607243), KIAA0415 (613653), APTX (606350), AR (313700), ARCN1 (600820), ARHGEF10 (608136), ARL13B (608922), ARL6IP1 (607669), ARNT2 (606036), ARSA (607574), ARX (300382), ASAH1 (613468), ASNS (108370), ASPA (608034), ATAD3A (612316), ATL1 (606439), ATL3 (609369), ATP13A2 (610513), ATP1A3 (182350), ATP2A1 (108730), ATP6AP2 (300556), ATP7A (300011), ATP7B (606882), ATRX (300032), ATXN1 (601556), ATXN2 (601517), ATXN3 (607047), ATXN7 (607640), AUH (600529), B3GALT6 (615291), B4GALNT1 (601873), BAG3 (603883), BCOR (300485), BCS1L (603647), BICD2 (609797), BIN1 (601248), BMP2 (112261), BOLA3 (613183), BRPF1 (602410), BSCL2 (606158), C10ORF2 (606075), C12orf65 (613541), C19orf12 (614297), C9orf72 (614260), CACNA1A (601011), CACNA1G (604065), CAPN3 (114240), CARS2 (612800), CASK (300172), CAV1 (601047), CAV3 (601253), CCDC88C (611204), CCT5 (610150), CECR1 (607575), CFL2 (601443), CHCHD10 (615903), CHMP1A (164010), CHMP2B (609512), CHRNA1 (100690), CHRND (100720), CHRNG (100730), CISD2 (611507), CIT (605629), CLCN1 (118425), CLP1 (608757), CLPP (601119), CNBP (116955), CNTNAP1 (602346), COASY (609855), COL6A1 (120220), COL6A2 (120240), COL6A3 (120250), COQ2 (609825), COQ4 (612898), COQ7 (601683), COQ9 (612837), COX10 (602125), COX15 (603646), COX6A1 (602072), COX7B (300885), CPOX (612732), CPT1C (608846), CREBBP (600140), CRYAB (123590), CSF1R (164770), CSPP1 (611654), CTDP1 (604927), CTNNB1 (116806), CTSD (116840), CTSF (603539), CUBN (602997), CYP27A1 (606530), CYP2U1 (610670), CYP7B1 (603711), D2HGDH (609186), DARS (603084), DARS2 (610956), DCTN1 (601143), DDC (107930), DDHD1 (614603), DDHD2 (615003), DDOST (602202), DES (125660), DGUOK (601465), DHCR24 (606418), DHFR (126060), DHH (605423), DHTKD1 (614984), DKC1 (300126), DLAT (608770), DNA2 (601810), DNAJB2 (604139), DNAJC12 (606060), DNAJC3 (601184), DNM1L (603850), DNM2 (602378), DNMT1 (126375), DPAGT1 (191350), DPM1 (603503), DST (113810), DYNC1H1 (600112), EARS2 (612799), EGR2 (129010), EIF2B1 (606686), EIF2B2 (606454), EIF2B3 (606273), EIF2B4 (606687), EIF2B5 (603945), ELOVL4 (605512), ELOVL5 (611805), ERBB3 (190151), ERBB4 (600543), ERCC1 (126380), ERCC2 (126340), ERCC3 (133510), ERCC6 (609413), ERCC8 (609412), ERLIN2 (611605), EXOSC3 (606489), FA2H (611026), FAH (613871), FAM126A (610531), FAM134B (613114), FARS2 (611592), FBLN5 (604580), FBN1 (134797), FBXL4 (605654), FBXO7 (605648), FGD4 (611104), FGF14 (601515), FHL1 (300163), FIG4 (609390), FKRP (606596), FKTN (607440), FLNA (300017), FLNC (102565), FLVCR1 (609144), FLVCR2 (610865), FOLR1 (136430), FOXG1 (164874), FOXP1 (605515), FOXRED1 (613622), FTL (134790), FUCA1 (612280), FUS (137070), FXN (606829), GAA (606800), GABRB3 (137192), GAD1 (605363), GALC (606890), GAN (605379), GARS (600287), GBA (606463), GBA2 (609471), GBE1 (607839), GCDH (608801), GCH1 (600225), GCSH (238330), GDAP1 (606598), GFAP (137780), GFM1 (606639), GIF (609342), GJA1 (121014), GJB1 (304040), GJC2 (608803), GLA (300644), GLB1 (611458), GLDC (238300), GLUL (138290), GM2A (613109), GNAO1 (139311), GNB4 (610863), GOSR2 (604027), GPR56 (604110), GPT2 (138210), GRIA3 (305915), GRID2 (602368), GRM1 (604473), GSN (137350), GSS (601002), HADHA (600890), HADHB (143450), HARS (142810), HARS2 (600783), HEXB (606873), HFE (613609), HINT1 (601314), HK1 (142600), HMBS (609806), HNRNPA1 (164017), HNRPDL (607137), HOXB1 (142968), HPRT1 (308000), HSD17B4 (601860), HSPB1 (602195), HSPB3 (604624), HSPB8 (608014), HSPD1 (118190), HTRA1 (602194), HTT (613004), IARS2 (612801), IBA57 (615316), IDS (300823), IER3IP1 (609382), IFIH1 (606951), IGHMBP2 (600502), IKBKAP (603722), INF2 (610982), ISPD (614631), ITPA (147520), ITPR1 (147265), KARS (601421), KCNA1 (176260), KCNC3 (176264), KCND3 (605411), KCNQ2 (602235), KCNT1 (608167), KDM5C (314690), KIAA0196 (610657), KIDINS220 (615759), KIF1A (601255), KIF1B (605995), KIF1C (603060), KIF2A (602591), KIF5A (602821), KY (605739), L1CAM (308840), L2HGDH (609584), LAMA2 (156225), LAMB1 (150240), LARGE (603590), LARS2 (604544), LDB3 (605906), LDHA (150000), LIAS (607031), LINS (610350), LIPT1 (610284), LITAF (603795), LMNA (150330), LMNB1 (150340), LPIN1 (605518), LRPPRC (607544), LRSAM1 (610933), LYRM7 (615831), LYST (606897), MAN2B1 (609458), MANBA (609489), MAPT (157140), MARS (156560), MARS2 (609728), MAT1A (610550), MATR3 (164015), MBOAT7 (606048), MCCC1 (609010), MCOLN1 (605248), MDH2 (154100), MECP2 (300005), MECR (608205), MED25 (610197), MEGF10 (612453), MFN2 (608507), MFSD2A (614397), C20ORF72 (615076), MICU1 (605084), MKS1 (609883), MLC1 (605908), MLYCD (606761), MME (120520), MOCS1 (603707), MOCS2 (603708), BRP44L (614738), MPV17 (137960), MPZ (159440), MRE11A (600814), MRPS22 (605810), MTM1 (300415), MTMR14 (611089), MTMR2 (603557), MTPAP (613669), MTTP (157147), MUT (609058), MVK (251170), MYH14 (608568), MYL2 (160781), MYOT (604103), NAGA (104170), NAGLU (609701), NANS (605202), NARS2 (612803), APOA1BP (608862), NDRG1 (605262), NDUFA1 (300078), NDUFA10 (603835), NDUFA11 (612638), NDUFA12 (614530), NDUFA2 (602137), NDUFA9 (603834), NDUFAF1 (606934), NDUFAF2 (609653), NDUFAF3 (612911), NDUFAF4 (611776), C20ORF7 (612360), C8ORF38 (612392), NDUFB11 (300403), NDUFB3 (603839), NDUFB9 (601445), NDUFS1 (157655), NDUFS2 (602985), NDUFS3 (603846), NDUFS4 (602694), NDUFS6 (603848), NDUFS7 (601825), NDUFS8 (602141), NDUFV1 (161015), NDUFV2 (600532), NEB (161650), NEFH (162230), NEFL (162280), NEU1 (608272), NF1 (613113), NF2 (607379), NGF (162030), NGLY1 (610661), NIPA1 (608145), NLRP12 (609648), NLRP3 (606416), NOD2 (605956), NOP56 (614154), NOTCH3 (600276), NPC1 (607623), NPC2 (601015), NRXN1 (600565), NSUN2 (610916), NT5C2 (600417), NTRK1 (191315), NUBPL (613621), OCRL (300535), OFD1 (300170), OPA1 (605290), OPA3 (606580), OPTN (602432), ORAI1 (610277), OSMR (601743), PAFAH1B1 (601545), PAH (612349), PANK2 (606157), PARK2 (602544), PARK7 (602533), PC (608786), PDGFRB (173410), PDHX (608769), PDK3 (300906), PDSS1 (607429), PDYN (131340), PEX1 (602136), PEX10 (602859), PEX11B (603867), PEX12 (601758), PEX13 (601789), PEX16 (603360), PEX19 (600279), PEX2 (170993), PEX5 (600414), PEX6 (601498), PEX7 (601757), PFN1 (176610), PGAM2 (612931), PGAP1 (611655), PGBD3 (609413), PGM3 (172100), PHGDH (606879), PHKA1 (311870), PHYH (602026), PIEZO2 (613629), PIGA (311770), PIGN (606097), PIGT (610272), PIGV (610274), PINK1 (608309), PLA2G6 (603604), PLCB1 (607120), PLEKHG5 (611101), PLP1 (300401), PMP22 (601097), PNKP (605610), PNPLA2 (609059), PNPLA6 (603197), PNPT1 (610316), POLG2 (604983), POLR3A (614258), POLR3B (614366), SGK196 (615247), POMT2 (607439), PPOX (600923), PPP2R2B (604325), PQBP1 (300463), PRDM12 (616458), PRICKLE1 (608500), PRKCG (176980), PRKRA (603424), PRMT7 (610087), PRNP (176640), PRPH (170710), PRPS1 (311850), PRX (605725), PSAP (176801), PSEN1 (104311), PSMB8 (177046), PTRF (603198), PTS (612719), PURA (600473), PYGM (608455), PYROXD1 (617220), RAB7A (602298), RAI1 (607642), RARS (107820), RARS2 (611524), REEP1 (609139), REEP2 (609347), RFT1 (611908), RMND1 (614917), RNASEH1 (604123), RNASEH2A (606034), RNASEH2B (610326), RNASEH2C (610330), RRM2B (604712), RTN2 (603183), RYR1 (180901), SACS (604490), SAMD9L (611170), SAMHD1 (606754), SBF1 (603560), SBF2 (607697), SCARB2 (602257), SCN10A (604427), SCN11A (604385), SCN2A (182390), SCN4A (603967), SCN9A (603415), SCO2 (604272), SCP2 (184755), SDHA (600857), SDHAF1 (612848), SDHD (602690), SEPN1 (606210), SEPSECS (613009), SEPT9 (604061), SETX (608465), SH3TC2 (608206), SHANK3 (606230), SHROOM4 (300579), SIGMAR1 (601978), SLC12A3 (600968), SLC12A6 (604878), SLC16A2 (300095), SLC19A3 (606152), SLC1A2 (600300), SLC1A4 (600229), SLC20A2 (158378), SLC25A1 (190315), SLC25A12 (603667), SLC25A19 (606521), SLC25A22 (609302), SLC25A4 (103220), SLC25A46 (610826), SLC2A1 (138140), SLC30A10 (611146), SLC33A1 (603690), SLC35A2 (314375), SLC39A14 (608736), SLC40A1 (604653), SLC46A1 (611672), GPR172A (607882), C20ORF54 (613350), SLC5A7 (608761), SLC6A8 (300036), SMAD4 (600993), SMN1 (600354), SMN2 (601627), SMPD1 (607608), SNAP25 (600322), SNAP29 (604202), SOD1 (147450), SOX10 (602229), SPAST (604277), SPEG (615950), SPG11 (610844), SPG20 (607111), SPG21 (608181), SPG7 (602783), SPTAN1 (182810), SPTBN2 (604985), SPTLC1 (605712), SPTLC2 (605713), SQSTM1 (601530), ST3GAL5 (604402), STIM1 (605921), STXBP1 (602926), SUCLA2 (603921), SUCLG1 (611224), SUMF1 (607939), SURF1 (185620), SZT2 (615463), TAF1 (313650), TARDBP (605078), TBC1D20 (611663), TBC1D24 (613577), TBCD (604649), TCAP (604488), TCTN2 (613846), TDP1 (607198), TELO2 (611140), TFG (602498), TGM6 (613900), TIA1 (603518), TIMM8A (300356), TMEM126A (612988), TMEM237 (614423), C1ORF70 (616101), TMEM43 (612048), TMTC3 (617218), TNFRSF11A (603499), TPI1 (190450), TPM2 (190990), TPP1 (607998), TREM2 (605086), TREX1 (606609), TRIM2 (614141), TRIM32 (602290), TRMT5 (611023), TRPA1 (604775), TRPV4 (605427), TSFM (604723), TTBK2 (611695), TTC19 (613814), TTN (188840), TTR (176300), TUBA1A (602529), TUBB3 (602661), TUBB4 (602662), TUBG1 (191135), TYMP (131222), TYROBP (604142), UBA1 (314370), UBA5 (610552), UBE3A (601623), UBQLN2 (300264), UCHL1 (191342), UQCRQ (612080), VAC14 (604632), VAMP1 (185880), VAPB (605704), VCP (601023), VLDLR (192977), VPS33A (610034), VPS37A (609927), VPS53 (615850), VRK1 (602168), WDR45 (300526), WDR62 (613583), WDR81 (614218), WNK1 (605232), WWOX (605131), XPA (611153), YARS (603623), ZC4H2 (300897), ZEB2 (605802), ZFYVE26 (612012), ZFYVE27 (610243), ZNF335 (610827).


    Kapsamlı Müsküler Distrofi / Miyopati (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 460 Gen + mtDNA)

    AAAS (605378), AARS (601065), AARS2 (612035), ABCC8 (600509), ABHD5 (604780), ACACA (200350), ACAD9 (611103), ACADS (606885), ACADVL (609575), ACTA1 (102610), ACY1 (104620), ADCK3 (606980), ADSSL1 (612498), AFG3L2 (604581), AGK (610345), AGL (610860), AGRN (103320), AIFM1 (300169), AIMP1 (603605), AIP (605555), ALAD (125270), ALDH18A1 (138250), ALDOA (103850), ALG2 (607905), ALS2 (606352), AMMECR1 (300195), AMPD1 (102770), ANO5 (608662), AP3B2 (602166), AP3D1 (607246), KIAA0415 (613653), APOA1 (107680), APOPT1 (616003), APTX (606350), AR (313700), ARSA (607574), ASAH1 (613468), ASXL2 (612991), ATL1 (606439), ATP1A3 (182350), ATP2A1 (108730), ATP7A (300011), B2M (109700), B3GALNT2 (610194), B3GNT1 (605517), B4GALT1 (137060), BAG3 (603883), BCL11B (606558), BCS1L (603647), BICD2 (609797), BIN1 (601248), BSCL2 (606158), C10ORF2 (606075), C12orf65 (613541), C19orf12 (614297), C9orf72 (614260), CACNA1A (601011), CACNA1S (114208), CAPN3 (114240), CASK (300172), CASQ1 (114250), CAV3 (601253), CCDC78 (614666), CCDC88A (609736), CFL2 (601443), CHAT (118490), CHCHD10 (615903), CHD4 (603277), CHKB (612395), CHMP2B (609512), CHRNA1 (100690), CHRNB1 (100710), CHRND (100720), CHRNE (100725), CHRNG (100730), CIT (605629), CLCN1 (118425), CLCNKB (602023), CNBP (116955), CNTN1 (600016), COL4A1 (120130), COL6A1 (120220), COL6A2 (120240), COL6A3 (120250), COLQ (603033), COQ2 (609825), COQ9 (612837), COX10 (602125), C12ORF62 (614478), COX15 (603646), FAM36A (614698), COX6A1 (602072), COX6B1 (124089), COX8A (123870), CPT1C (608846), CPT2 (600650), CRYAB (123590), CTNS (606272), CYP7B1 (603711), D2HGDH (609186), DARS2 (610956), DCPS (610534), DCTN1 (601143), DDHD1 (614603), DDHD2 (615003), DES (125660), DGUOK (601465), DHTKD1 (614984), DMD (300377), DMPK (605377), DNA2 (601810), DNAJB2 (604139), DNAJB6 (611332), DNAJC12 (606060), DNAJC19 (608977), DNM2 (602378), DOK7 (610285), DPAGT1 (191350), DPM1 (603503), DPM2 (603564), DPM3 (605951), DYNC1H1 (600112), DYSF (603009), EARS2 (612799), EGR2 (129010), EIF2B2 (606454), EIF2B4 (606687), EMD (300384), ENO3 (131370), ERBB4 (600543), ERCC6 (609413), ERLIN2 (611605), ETFA (608053), ETFB (130410), ETFDH (231675), EXOSC3 (606489), FAH (613871), FAM126A (610531), FAM134B (613114), FARS2 (611592), FASTKD2 (612322), FBLN5 (604580), FBN1 (134797), FGA (134820), FGD4 (611104), FGF12 (601513), FHL1 (300163), FIG4 (609390), FKBP14 (614505), FKRP (606596), FKTN (607440), FLAD1 (610595), FLNC (102565), FLVCR1 (609144), FOXRED1 (613622), C9ORF4 (604574), GAA (606800), GAN (605379), GARS (600287), GATM (602360), GBA2 (609471), GBE1 (607839), GCK (138079), GDAP1 (606598), GFER (600924), GFM1 (606639), GFPT1 (138292), GJB1 (304040), GJC2 (608803), GK (300474), GLE1 (603371), GMPPB (615320), GNB4 (610863), GNB5 (604447), GNE (603824), GPI (172400), GRID2 (602368), GRIN2D (602717), GTF2H5 (608780), GYG1 (603942), GYS1 (138570), HADHA (600890), HADHB (143450), HARS (142810), HECW2 (617245), HEXB (606873), HINT1 (601314), HK1 (142600), HMBS (609806), HNRNPA1 (164017), HNRNPA2B1 (600124), HNRPDL (607137), HOXB1 (142968), HRAS (190020), HSD17B4 (601860), HSPB1 (602195), HSPB3 (604624), HSPB8 (608014), HSPD1 (118190), HSPG2 (142461), HTR1A (109760), IARS (600709), IFIH1 (606951), IGHMBP2 (600502), INF2 (610982), INS (176730), ISCU (611911), ISPD (614631), ITGA7 (600536), ITPA (147520), JPH2 (605267), KARS (601421), KBTBD13 (613727), KCNJ1 (600359), KCNJ11 (600937), KCNJ2 (600681), KCNJ5 (600734), KIAA0196 (610657), KIF1A (601255), KIF1B (605995), KIF1C (603060), KIF21A (608283), KIF5A (602821), KY (605739), L1CAM (308840), LAMA2 (156225), LAMP2 (309060), LARGE (603590), LDB3 (605906), LIPE (151750), LITAF (603795), LMNA (150330), LMNB1 (150340), LPIN1 (605518), LRSAM1 (610933), LYRM7 (615831), LYST (606897), LYZ (153450), MARS (156560), MATR3 (164015), MBOAT7 (606048), MED25 (610197), MEGF10 (612453), MFN2 (608507), C20ORF72 (615076), MICU1 (605084), MITF (156845), MME (120520), MOCOS (613274), C7ORF11 (609188), MPV17 (137960), MPZ (159440), MRPS16 (609204), MTFMT (611766), MTHFR (607093), MTM1 (300415), MTMR14 (611089), MTMR2 (603557), MUSK (601296), MYF6 (159991), MYH14 (608568), MYH2 (160740), MYH3 (160720), MYH7 (160760), MYOT (604103), MYPN (608517), NAGA (104170), NARS2 (612803), APOA1BP (608862), NDRG1 (605262), NDUFA1 (300078), NDUFA11 (612638), NDUFAF1 (606934), NDUFAF2 (609653), NDUFAF3 (612911), NDUFAF4 (611776), C20ORF7 (612360), NDUFB3 (603839), NDUFB9 (601445), NDUFS1 (157655), NDUFS2 (602985), NDUFS3 (603846), NDUFS4 (602694), NDUFS6 (603848), NDUFV2 (600532), NEB (161650), NEFH (162230), NEFL (162280), NEU1 (608272), NF1 (613113), NFU1 (608100), NIPA1 (608145), NPHP1 (607100), NSUN2 (610916), NUBPL (613621), OPA1 (605290), ORAI1 (610277), PABPN1 (602279), PDK3 (300906), PDSS1 (607429), PDSS2 (610564), PEX5 (600414), PFKM (610681), PGAM2 (612931), PGK1 (311800), PGM1 (171900), PHKA1 (311870), PHKB (172490), PHYH (602026), PIGY (610662), PKP2 (602861), PLA2G6 (603604), PLEC (601282), PLEKHG2 (611893), PLEKHG5 (611101), PLP1 (300401), PMM2 (601785), PMP22 (601097), PNKP (605610), PNPLA2 (609059), PNPLA6 (603197), PNPT1 (610316), POLG (174763), POLG2 (604983), POMGNT1 (606822), C3orf39 (614828), SGK196 (615247), POMT1 (607423), POMT2 (607439), PRKAG3 (604976), PRMT7 (610087), PRNP (176640), PRPH (170710), PRPS1 (311850), PRX (605725), PSAP (176801), PTEN (601728), PTRF (603198), PUS1 (608109), PUS3 (616283), PYGM (608455), PYROXD1 (617220), RAB7A (602298), RAPSN (601592), RBCK1 (610924), REEP1 (609139), RET (164761), RMND1 (614917), RNASEH1 (604123), RRM2B (604712), RTN2 (603183), RYR1 (180901), SACS (604490), SBF1 (603560), SBF2 (607697), SCN11A (604385), SCN3A (182391), SCN4A (603967), SCO1 (603644), SCO2 (604272), SDHA (600857), SDHAF1 (612848), SDHD (602690), SEPN1 (606210), SEPT9 (604061), SETX (608465), SGCA (600119), SGCB (600900), SGCD (601411), SGCE (604149), SGCG (608896), SH3TC2 (608206), SIGMAR1 (601978), SIL1 (608005), SKI (164780), SLC12A1 (600839), SLC12A3 (600968), SLC12A6 (604878), SLC1A2 (600300), SLC1A4 (600229), SLC22A5 (603377), SLC25A1 (190315), SLC25A19 (606521), SLC25A4 (103220), SLC33A1 (603690), SLC37A4 (602671), GPR172A (607882), C20ORF54 (613350), SLC5A7 (608761), SLC6A9 (601019), SMCHD1 (614982), SMN1 (600354), SMN2 (601627), SMPD1 (607608), SNAP25 (600322), SOD1 (147450), SON (182465), SOX10 (602229), SOX5 (604975), SPAST (604277), SPEG (615950), SPG11 (610844), SPG20 (607111), SPG21 (608181), SPG7 (602783), SPTLC1 (605712), SPTLC2 (605713), SQSTM1 (601530), STIM1 (605921), SUCLA2 (603921), SUCLG1 (611224), SURF1 (185620), SYNE1 (608441), SYNE2 (608442), TACO1 (612958), TARDBP (605078), TAZ (300394), TBCD (604649), TCAP (604488), TCN2 (613441), TFG (602498), TGFB1 (190180), TGFB3 (190230), TGM6 (613900), TIA1 (603518), TK2 (188250), TMEM165 (614726), TMEM43 (612048), TMEM5 (605862), TNNI2 (191043), TNNT1 (191041), TNPO3 (610032), TNXB (600985), TOR1AIP1 (614512), TPI1 (190450), TPM2 (190990), TPM3 (191030), TRIM2 (614141), TRIM32 (602290), TRMT5 (611023), TRMU (610230), TRPV4 (605427), TSFM (604723), TTC19 (613814), TTN (188840), TTR (176300), TUBB3 (602661), TUFM (602389), TYMP (131222), UBA1 (314370), VAPB (605704), VCP (601023), VRK1 (602168), WDR34 (613363), YARS (603623), YARS2 (610957), ZC4H2 (300897), ZFYVE26 (612012), ZFYVE27 (610243), ZIC1 (600470).


    Kapsamlı Lökodistrofi / Lökoensefalopati (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 122 Gen + mtDNA)

    ABAT (137150), ABCD1 (300371), ACOX1 (609751), ADAR (146920), ADK (102750), AIMP1 (603605), ALDH3A2 (609523), APOPT1 (616003), ARCN1 (600820), ARSA (607574), ASPA (608034), ASXL2 (612991), AUH (600529), B3GALNT2 (610194), BCL11B (606558), CCDC88A (609736), CLCN2 (600570), CLN6 (606725), COL4A1 (120130), COX15 (603646), CSF1R (164770), CTNS (606272), CYP27A1 (606530), DARS (603084), DARS2 (610956), EARS2 (612799), EIF2B1 (606686), EIF2B2 (606454), EIF2B3 (606273), EIF2B4 (606687), EIF2B5 (603945), FA2H (611026), FAM126A (610531), FBXL4 (605654), FKRP (606596), GALC (606890), GFAP (137780), GJC2 (608803), GPR56 (604110), HEPACAM (611642), HSPD1 (118190), HTRA1 (602194), ITPA (147520), KCNT1 (608167), L2HGDH (609584), LMNB1 (150340), MARS2 (609728), MLC1 (605908), MLYCD (606761), MPV17 (137960), MRPS22 (605810), MTFMT (611766), MTTP (157147), APOA1BP (608862), NDUFA1 (300078), NDUFA10 (603835), NDUFA11 (612638), NDUFA12 (614530), NDUFA2 (602137), NDUFA9 (603834), NDUFAF1 (606934), NDUFAF2 (609653), NDUFAF3 (612911), NDUFAF4 (611776), C20ORF7 (612360), C8ORF38 (612392), NDUFB3 (603839), NDUFS1 (157655), NDUFS2 (602985), NDUFS3 (603846), NDUFS4 (602694), NDUFS6 (603848), NDUFS7 (601825), NDUFS8 (602141), NDUFV1 (161015), NDUFV2 (600532), NOTCH3 (600276), NUBPL (613621), OMG (164345), PAH (612349), PC (608786), PHGDH (606879), PLEKHG2 (611893), PLP1 (300401), POLG (174763), POLR3A (614258), POLR3B (614366), PRPS1 (311850), PSAP (176801), PTEN (601728), PUS3 (616283), RNASEH2A (606034), RNASEH2B (610326), RNASEH2C (610330), SAMHD1 (606754), SCP2 (184755), SDHA (600857), SDHAF1 (612848), SDHB (185470), SLC16A2 (300095), SLC1A2 (600300), SLC1A4 (600229), SLC25A12 (603667), SLC6A9 (601019), SNORD118 (616663), SNRPB (182282), SON (182465), SOX10 (602229), STXBP1 (602926), TACO1 (612958), TARS2 (612805), TBCD (604649), TBL1X (300196), TMTC3 (617218), TREM2 (605086), TREX1 (606609), TUBB4 (602662), TUFM (602389), TYMP (131222), TYROBP (604142), VARS2 (612802), VPS33A (610034).


    Kapsamlı Zihinsel Engelli/Otizm (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 902 Gen)

    AAAS (605378), AARS (601065), AARS2 (612035), ABAT (137150), ABCC8 (600509), ABCC9 (601439), ABCD1 (300371), ABHD5 (604780), ACADM (607008), ACADS (606885), ACADSB (600301), ACAT1 (607809), ACE (106180), ACO2 (100850), ACOX1 (609751), ACSL4 (300157), ACTB (102630), ACTG1 (102560), ACY1 (104620), ADAMTSL2 (612277), ADAR (146920), ADCK3 (606980), ADD3 (601568), ADK (102750), ADNP (611386), ADSL (608222), AFF2 (300806), AGA (613228), AHCY (180960), AHDC1 (615790), AHI1 (608894), AIFM1 (300169), AIMP1 (603605), AIP (605555), AKT2 (164731), AKT3 (611223), ALDH18A1 (138250), ALDH3A2 (609523), ALDH5A1 (610045), ALDH6A1 (603178), ALDH7A1 (107323), ALDOA (103850), ALDOB (612724), ALG1 (605907), ALG11 (613666), ALG2 (607905), ALG3 (608750), ALG6 (604566), ALG9 (606941), AMPD2 (102771), AMT (238310), ANK3 (600465), ANO10 (613726), AP1S2 (300629), AP3B1 (603401), AP3B2 (602166), AP3D1 (607246), AP4B1 (607245), AP4E1 (607244), AP4M1 (602296), AP4S1 (607243), APC2 (612034), APOPT1 (616003), APTX (606350), ARCN1 (600820), ARFGEF2 (605371), ARG1 (608313), ARHGEF6 (300267), ARHGEF9 (300429), ARID1A (603024), ARID1B (614556), ARL13B (608922), ARL6 (608845), ARSA (607574), ARSB (611542), ARSE (300180), ARX (300382), ASAH1 (613468), ASL (608310), ASNS (108370), ASPA (608034), ASPM (605481), ASS1 (603470), ASXL2 (612991), ATIC (601731), ATL1 (606439), ATP1A2 (182340), ATP1A3 (182350), ATP2A2 (108740), ATP5A1 (164360), ATP6AP2 (300556), ATP6V0A2 (611716), ATP7A (300011), ATP8A2 (605870), ATPAF2 (608918), ATRX (300032), AUH (600529), AUTS2 (607270), B3GALNT2 (610194), B3GALT6 (615291), B3GNT1 (605517), B4GALT1 (137060), B4GALT7 (604327), B9D1 (614144), BBIP1 (613605), BBS1 (209901), BBS10 (610148), BBS12 (610683), BBS2 (606151), BBS4 (600374), BBS5 (603650), BBS7 (607590), BBS9 (607968), BCKDHA (608348), BCKDHB (248611), BCL11A (606557), BCL11B (606558), BCOR (300485), BCS1L (603647), BOLA3 (613183), BRAF (164757), BRPF1 (602410), BRWD3 (300553), BSCL2 (606158), BSND (606412), BTD (609019), C10ORF2 (606075), C12ORF57 (615140), C12orf65 (613541), C19orf12 (614297), C5ORF42 (614571), CA5A (114761), CA8 (114815), CACNA1A (601011), CACNA1C (114205), CACNG2 (602911), CAD (114010), CAMTA1 (611501), CARS2 (612800), CASC5 (609173), CASK (300172), CBL (165360), CBS (613381), CC2D1A (610055), CC2D2A (612013), CCDC22 (300859), CCDC28B (610162), CCDC88A (609736), CCDC88C (611204), CDC45 (603465), CDC6 (602627), CDH15 (114019), CDK5RAP2 (608201), CDKL5 (300203), CDKN1C (600856), CDON (608707), CDT1 (605525), CECR1 (607575), CENPJ (609279), CEP135 (611423), CEP152 (613529), CEP290 (610142), TSGA14 (610523), CERS1 (606919), CHD2 (602119), CHD4 (603277), CHD7 (608892), CHD8 (610528), CHKB (612395), CHMP1A (164010), CHRNA4 (118504), CHST14 (608429), CIT (605629), CLCN4 (302910), CLCNKA (602024), CLCNKB (602023), CLIC2 (300138), CLN3 (607042), CLN5 (608102), CLN8 (607837), CLP1 (608757), CLPP (601119), CNKSR2 (300724), COASY (609855), COG4 (606976), COG6 (606977), COL11A2 (120290), COL2A1 (120140), COL4A1 (120130), COQ2 (609825), COQ4 (612898), COQ7 (601683), COQ9 (612837), COX10 (602125), C12ORF62 (614478), COX15 (603646), FAM36A (614698), COX4I2 (607976), COX6B1 (124089), COX7B (300885), COX8A (123870), CPS1 (608307), CPT2 (600650), CRADD (603454), CRBN (609262), CREBBP (600140), CSPP1 (611654), CSTB (601145), CTDP1 (604927), CTH (607657), CTNNB1 (116806), CTSA (613111), CTSD (116840), CUL4B (300304), CYP27A1 (606530), D2HGDH (609186), DARS (603084), DBT (248610), DCAF17 (612515), DCPS (610534), DCX (300121), DDC (107930), DDHD2 (615003), DDOST (602202), DEAF1 (602635), DEPDC5 (614191), DGUOK (601465), DHCR24 (606418), DHCR7 (602858), DHFR (126060), DHTKD1 (614984), DKC1 (300126), DLAT (608770), DLD (238331), DLG3 (300189), DNA2 (601810), DNAJC12 (606060), DNAJC19 (608977), DNAJC6 (608375), DNM1 (602377), DNM1L (603850), DNMT3A (602769), DOLK (610746), DPAGT1 (191350), DPM1 (603503), DPM2 (603564), DPYS (613326), DYM (607461), DYNC1H1 (600112), DYRK1A (600855), EARS2 (612799), EBP (300205), ECHS1 (602292), EDC3 (609842), EEF1A2 (602959), EFEMP2 (604633), EHMT1 (607001), EIF2B1 (606686), EIF2B2 (606454), EIF2B3 (606273), EIF2B4 (606687), EIF2B5 (603945), ELOVL4 (605512), EPB41L1 (602879), EPM2A (607566), ERCC1 (126380), ERCC2 (126340), ERCC4 (133520), ERCC5 (133530), ERCC6 (609413), ERCC8 (609412), ERLIN2 (611605), C6ORF70 (615532), ETFA (608053), ETFB (130410), ETFDH (231675), ETHE1 (608451), EXOSC3 (606489), EXT2 (608210), EZH2 (601573), FAM126A (610531), FAM20C (611061), FANCA (607139), FARS2 (611592), FASTKD2 (612322), FBLN5 (604580), FBN1 (134797), FBXL4 (605654), FGD1 (300546), FGF14 (601515), FH (136850), FIG4 (609390), FKRP (606596), FKTN (607440), FLNA (300017), FLVCR2 (610865), FMR1 (309550), FOLR1 (136430), FOXG1 (164874), FOXP1 (605515), FOXP2 (605317), FOXRED1 (613622), FRMPD4 (300838), FTCD (606806), FTSJ1 (300499), FUCA1 (612280), GABRA1 (137160), GABRB3 (137192), GAD1 (605363), GALC (606890), GAMT (601240), GATA6 (601656), GATM (602360), GBA (606463), GBA2 (609471), GCDH (608801), GCH1 (600225), GCK (138079), GCSH (238330), GDI1 (300104), GFAP (137780), GFM1 (606639), GJA1 (121014), GJC2 (608803), GK (300474), GLB1 (611458), GLDC (238300), GLI2 (165230), GLI3 (165240), GLUD1 (138130), GMPPA (615495), GMPPB (615320), GNAO1 (139311), GNAQ (600998), GNB5 (604447), GNE (603824), GNPAT (602744), GNPTAB (607840), GNPTG (607838), GNS (607664), GPC3 (300037), GPI (172400), GPR56 (604110), GPSM2 (609245), GPT2 (138210), GRIA3 (305915), GRID2 (602368), GRIK2 (138244), GRIN1 (138249), GRIN2A (138253), GRIN2B (138252), GRM1 (604473), GSS (601002), GTPBP3 (608536), GUF1 (617064), GUSB (611499), HADH (601609), HADHA (600890), HADHB (143450), HCCS (300056), HCFC1 (300019), HCN1 (602780), HDAC8 (300269), HECW2 (617245), HELLS (603946), HEPACAM (611642), HERC2 (605837), HEXB (606873), HGSNAT (610453), HLCS (609018), HMGB3 (300193), HNRNPH2 (300610), HOXA1 (142955), HPD (609695), HPRT1 (308000), HRAS (190020), HSD17B10 (300256), HSD17B4 (601860), HSPD1 (118190), HSPG2 (142461), HUWE1 (300697), IARS (600709), IBA57 (615316), IDS (300823), IDUA (252800), IER3IP1 (609382), IFIH1 (606951), IFT172 (607386), IFT74 (608040), IGBP1 (300139), IGF1R (147370), IL1RAPL1 (300206), IMPA1 (602064), INPP5E (613037), INS (176730), IQSEC2 (300522), ISPD (614631), ITGA7 (600536), ITM2B (603904), ITPA (147520), ITPR1 (147265), JAG1 (601920), KIAA1267 (612452), KARS (601421), KATNAL2 (614697), KCNB1 (600397), KCNC3 (176264), KCNJ1 (600359), KCNJ11 (600937), KCNJ2 (600681), KCNQ2 (602235), KCNT1 (608167), KCTD7 (611725), KDM5C (314690), KDM6A (300128), KIAA0196 (610657), KIAA0319 (609269), KIAA2022 (300524), KIDINS220 (615759), KIF1A (601255), KIF2A (602591), KIF4A (300521), KIF7 (611254), KIRREL3 (607761), MLL2 (602113), KPTN (615620), KRAS (190070), KRT18 (148070), L1CAM (308840), L2HGDH (609584), LAMA2 (156225), LAMB1 (150240), LAMC3 (604349), LAMP2 (309060), LARGE (603590), LARP7 (612026), LIAS (607031), LINS (610350), LIPT1 (610284), LMBRD1 (612625), LMNA (150330), LRPPRC (607544), LYRM7 (615831), LYST (606897), MAN1B1 (604346), MAN2B1 (609458), MANBA (609489), MAOA (309850), MAP2K1 (176872), MAP2K2 (601263), MARS2 (609728), MAT1A (610550), MBD5 (611472), MBOAT7 (606048), MBTPS2 (300294), MCCC1 (609010), MCOLN1 (605248), MCPH1 (607117), MECP2 (300005), MED12 (300188), MED13L (608771), MED23 (605042), MED25 (610197), MEF2C (600662), METTL23 (615262), MFSD2A (614397), MFSD8 (611124), MGAT2 (602616), MICU1 (605084), MID1 (300552), MID2 (300204), MKKS (604896), MKS1 (609883), MLC1 (605908), MLYCD (606761), MMAA (607481), MMAB (607568), MMACHC (609831), MMADHC (611935), MOCS1 (603707), MOCS2 (603708), MOGS (601336), BRP44L (614738), MPDZ (603785), C7ORF11 (609188), MPV17 (137960), MRPL3 (607118), MRPS22 (605810), MTFMT (611766), MTHFR (607093), MTM1 (300415), MTR (156570), MUSK (601296), MVK (251170), MYH3 (160720), MYH8 (160741), NAA10 (300013), NAGA (104170), NAGLU (609701), NAGS (608300), NANS (605202), NARS2 (612803), APOA1BP (608862), NCOR2 (600848), NDP (300658), NDST1 (600853), NDUFA1 (300078), NDUFA10 (603835), NDUFA11 (612638), NDUFA12 (614530), NDUFA2 (602137), NDUFA9 (603834), NDUFAF1 (606934), NDUFAF2 (609653), NDUFAF3 (612911), NDUFAF4 (611776), C20ORF7 (612360), C8ORF38 (612392), NDUFB3 (603839), NDUFB9 (601445), NDUFS1 (157655), NDUFS2 (602985), NDUFS3 (603846), NDUFS4 (602694), NDUFS6 (603848), NDUFS7 (601825), NDUFS8 (602141), NDUFV1 (161015), NDUFV2 (600532), NECAP1 (611623), NEU1 (608272), NF1 (613113), NFIA (600727), NFIX (164005), NFU1 (608100), NGF (162030), NGLY1 (610661), NHLRC1 (608072), NHS (300457), NIPBL (608667), NKAIN2 (609758), NKX2-5 (600584), NLGN3 (300336), NLGN4X (300427), NPAS2 (603347), NPAS3 (609430), NPAS4 (608554), NPC1 (607623), NPC2 (601015), NPHP1 (607100), NPR2 (108961), NRAS (164790), NRXN1 (600565), NSD1 (606681), WHSC1 (602952), NSDHL (300275), NSMCE2 (617246), NSUN2 (610916), NT5C2 (600417), NTRK1 (191315), NUBPL (613621), OCLN (602876), OCRL (300535), OFD1 (300170), OPA1 (605290), OPHN1 (300127), ORC1 (601902), ORC4 (603056), ORC6 (607213), OTC (300461), LEPRE1 (610339), PACRG (608427), PACS1 (607492), PAFAH1B1 (601545), PAH (612349), PAK3 (300142), PALB2 (610355), PANK2 (606157), PARN (604212), PC (608786), PCDH19 (300460), PDE6D (602676), PDGFRB (173410), PDHA1 (300502), PDHX (608769), PDP1 (605993), PDSS1 (607429), PEPD (613230), PEX1 (602136), PEX12 (601758), PEX2 (170993), PEX5 (600414), PEX7 (601757), PGAP1 (611655), PGAP2 (615187), PGAP3 (611801), PGBD3 (609413), PGK1 (311800), PGM3 (172100), PHF6 (300414), PHF8 (300560), PHGDH (606879), PI4KA (600286), PIEZO2 (613629), PIGA (311770), PIGL (605947), PIGN (606097), PIGO (614730), PIGT (610272), PIGV (610274), PIGY (610662), PIK3CA (171834), PIK3R2 (603157), PLA2G6 (603604), PLCB1 (607120), PLEKHG2 (611893), PLOD3 (603066), PLP1 (300401), PMM2 (601785), PNKP (605610), PNPLA6 (603197), PNPO (603287), POLA1 (312040), POLG (174763), POLR3A (614258), POLR3B (614366), POMGNT1 (606822), C3orf39 (614828), SGK196 (615247), POMT1 (607423), POMT2 (607439), PORCN (300651), PPT1 (600722), PQBP1 (300463), PRMT7 (610087), PRNP (176640), PRPS1 (311850), PRSS12 (606709), PSAP (176801), PSMB8 (177046), PSPH (172480), PTCH1 (601309), PTCHD1 (300828), PTDSS1 (612792), PTEN (601728), PTPN11 (176876), PTPRT (608712), PTS (612719), PURA (600473), PUS1 (608109), PUS3 (616283), PYCR1 (179035), PYROXD1 (617220), QDPR (612676), RAB39B (300774), RAD21 (606462), RAF1 (164760), RAI1 (607642), RAPSN (601592), RARS (107820), RARS2 (611524), RBM10 (300080), RECQL4 (603780), RELN (600514), RET (164761), RFT1 (611908), RIN2 (610222), RIT1 (609591), RLIM (300379), RMRP (157660), RNASEH1 (604123), RNASEH2A (606034), RNASEH2B (610326), RNASEH2C (610330), RNF135 (611358), RNU4ATAC (601428), ROGDI (614574), ROR2 (602337), RORA (600825), RPGRIP1L (610937), RPL10 (312173), RPS19 (603474), RPS6KA3 (300075), RRM2B (604712), RTTN (610436), SACS (604490), SAMHD1 (606754), SASS6 (609321), SATB2 (608148), SBF1 (603560), SCAF4 (616023), SCAF8 (616024), SCN11A (604385), SCN1A (182389), SCN2A (182390), SCN8A (600702), SCN9A (603415), SCO1 (603644), SCO2 (604272), SDHA (600857), SDHAF1 (612848), SDHD (602690), SEMA3E (608166), SEPSECS (613009), SERAC1 (614725), SERPINH1 (600943), SETBP1 (611060), SETD2 (612778), SETD5 (615743), SGSH (605270), SHANK2 (603290), SHANK3 (606230), SHH (600725), SHOC2 (602775), SHROOM4 (300579), SIL1 (608005), SIX3 (603714), SKI (164780), SLC12A1 (600839), SLC12A6 (604878), SLC13A5 (608305), SLC16A1 (600682), SLC16A2 (300095), SLC17A5 (604322), SLC18A3 (600336), SLC19A2 (603941), SLC19A3 (606152), SLC1A2 (600300), SLC1A4 (600229), SLC20A2 (158378), SLC25A1 (190315), SLC25A12 (603667), SLC25A19 (606521), SLC25A22 (609302), SLC2A1 (138140), SLC2A10 (606145), SLC33A1 (603690), SLC35A2 (314375), SLC35C1 (605881), SLC39A14 (608736), SLC46A1 (611672), GPR172A (607882), SLC6A1 (137165), SLC6A3 (126455), SLC6A8 (300036), SLC6A9 (601019), SLC9A6 (300231), SLC9A9 (608396), SLX4 (613278), SMAD4 (600993), SMARCA2 (600014), SMARCA4 (603254), SMARCB1 (601607), SMARCE1 (603111), SMC1A (300040), SMC3 (606062), SMPD1 (607608), SMS (300105), SNAP29 (604202), SNORD118 (616663), SNRPB (182282), SOBP (613667), SON (182465), SOS1 (182530), SOX10 (602229), SOX3 (313430), SOX5 (604975), SPAST (604277), SPG11 (610844), SPG20 (607111), SPR (182125), SPRED1 (609291), SPTAN1 (182810), SPTBN2 (604985), SRCAP (611421), SRD5A3 (611715), SRPX2 (300642), SSR4 (300090), ST3GAL3 (606494), ST3GAL5 (604402), STIL (181590), STIM1 (605921), STRADA (608626), STT3A (601134), STT3B (608605), STX1B (601485), STXBP1 (602926), SUCLA2 (603921), SUCLG1 (611224), SUMF1 (607939), SUOX (606887), SURF1 (185620), SYN1 (313440), SYNGAP1 (603384), SYP (313475), SYT14 (610949), SZT2 (615463), TACO1 (612958), TAF1 (313650), TARS2 (612805), TAT (613018), TBC1D20 (611663), TBC1D24 (613577), TBCD (604649), TBL1X (300196), TBL1XR1 (608628), TBR1 (604616), TBX1 (602054), TCF4 (602272), TCN2 (613441), TCTN1 (609863), TCTN2 (613846), TCTN3 (613847), TECR (610057), TELO2 (611140), TGFBR1 (190181), TGFBR2 (190182), TH (191290), THRA (190120), TIMM8A (300356), TKT (606781), TMEM138 (614459), TMEM165 (614726), TMEM216 (613277), TMEM231 (614949), TMEM237 (614423), C1ORF70 (616101), TMEM67 (609884), TMEM70 (612418), TMLHE (300777), TMTC3 (617218), TNIK (610005), TPK1 (606370), TPP1 (607998), TRAPPC9 (611966), TREX1 (606609), TRIM32 (602290), RG9MTD2 (616013), TRMT5 (611023), TRNT1 (612907), TSC1 (605284), TSC2 (191092), TSEN2 (608753), TSEN34 (608754), TSEN54 (608755), TSFM (604723), TSHR (603372), TSPAN7 (300096), TTC19 (613814), TTC8 (608132), TUBA1A (602529), TUBA8 (605742), TUBB (191130), TUBB2A (615101), TUBB2B (612850), TUBB3 (602661), TUBB4 (602662), TUBG1 (191135), TUSC3 (601385), UBE2A (312180), UBE3A (601623), UCHL1 (191342), UPF3B (300298), C6ORF125 (614461), UQCRQ (612080), USP27X (300975), USP9X (300072), VAC14 (604632), VARS2 (612802), C14orf133 (613401), VLDLR (192977), VPS13B (607817), VPS33A (610034), VPS33B (608552), VPS37A (609927), VPS45 (610035), VPS53 (615850), VRK1 (602168), WDR34 (613363), WDR45 (300526), WDR62 (613583), WDR81 (614218), WFS1 (606201), WNT1 (164820), WWOX (605131), XPA (611153), ZNF238 (608433), ZC3H14 (613279), ZC4H2 (300897), ZDHHC15 (300576), ZDHHC9 (300646), ZEB2 (605802), ZFYVE26 (612012), ZIC1 (600470), ZIC2 (603073), ZIC3 (300265), ZMYND11 (608668), ZNF148 (601897), ZNF335 (610827), ZNF423 (604557), ZNF592 (613624), ZNF711 (314990).


    Kapsamlı Epilepsi (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 554 Gen + mtDNA)

    AARS (601065), ABAT (137150), ABCC8 (600509), ABCD1 (300371), ACADM (607008), ACADS (606885), ACADSB (600301), ACO2 (100850), ACOX1 (609751), ACSF3 (614245), ACTB (102630), ACTG1 (102560), ACVRL1 (601284), ACY1 (104620), ADAMTSL2 (612277), ADCK3 (606980), ADD3 (601568), ADK (102750), ADNP (611386), ADSL (608222), AFG3L2 (604581), AGA (613228), AIFM1 (300169), AIMP1 (603605), AKT2 (164731), AKT3 (611223), ALDH3A2 (609523), ALDH5A1 (610045), ALDH7A1 (107323), ALDOB (612724), ALG1 (605907), ALG11 (613666), ALG12 (607144), ALG13 (300776), ALG2 (607905), ALG3 (608750), ALG6 (604566), AMACR (604489), AMPD2 (102771), AMT (238310), AP1S2 (300629), AP3B2 (602166), AP3D1 (607246), AP4B1 (607245), AP4E1 (607244), AP4M1 (602296), APOPT1 (616003), ARCN1 (600820), ARFGEF2 (605371), ARG1 (608313), ARHGEF9 (300429), ARSA (607574), ARX (300382), ASAH1 (613468), ASL (608310), ASNS (108370), ASPA (608034), ASPM (605481), ASS1 (603470), ASXL2 (612991), ATIC (601731), ATM (607585), ATP13A2 (610513), ATP1A2 (182340), ATP1A3 (182350), ATP2A2 (108740), ATP5A1 (164360), ATP6AP2 (300556), ATP6V0A2 (611716), ATP7A (300011), ATRX (300032), AUTS2 (607270), BCKDHA (608348), BCKDHB (248611), BCL11B (606558), BCS1L (603647), BOLA3 (613183), BSCL2 (606158), BTD (609019), C10ORF2 (606075), C12ORF57 (615140), CACNA1A (601011), CACNA1G (604065), CACNA1H (607904), CACNA2D2 (607082), CACNB4 (601949), CAD (114010), CARS2 (612800), CASK (300172), CASQ2 (114251), CASR (601199), CBS (613381), CCDC88A (609736), CCDC88C (611204), CCM2 (607929), CDKL5 (300203), CECR1 (607575), CENPJ (609279), CERS1 (606919), CHD2 (602119), CHRNA2 (118502), CHRNA4 (118504), CHRNB2 (118507), CIT (605629), CLCN2 (600570), CLCN4 (302910), CLCNKA (602024), CLCNKB (602023), CLIC2 (300138), CLN3 (607042), CLN5 (608102), CLN6 (606725), CLN8 (607837), CLP1 (608757), CNKSR2 (300724), CNTNAP2 (604569), COG6 (606977), COG7 (606978), COG8 (606979), COL4A1 (120130), COL6A2 (120240), COQ2 (609825), COQ4 (612898), COQ9 (612837), COX10 (602125), C12ORF62 (614478), COX15 (603646), FAM36A (614698), COX6B1 (124089), COX8A (123870), CPA6 (609562), CPS1 (608307), CPT1A (600528), CPT2 (600650), CREBBP (600140), CSTB (601145), CTSA (613111), CTSD (116840), CTSF (603539), CUL4B (300304), CYP27A1 (606530), D2HGDH (609186), DBT (248610), DCX (300121), DDC (107930), DENND5A (617278), DEPDC5 (614191), DGUOK (601465), DHCR24 (606418), DHCR7 (602858), DHFR (126060), DLD (238331), DNAJC5 (611203), DNM1 (602377), DNM1L (603850), DOCK7 (615730), DPAGT1 (191350), DPM1 (603503), DPM2 (603564), DPYD (612779), DPYS (613326), DYNC1H1 (600112), DYRK1A (600855), EARS2 (612799), EBP (300205), EEF1A2 (602959), EFHC1 (608815), EHMT1 (607001), EIF2B1 (606686), EIF2B2 (606454), EIF2B3 (606273), EIF2B4 (606687), EIF2B5 (603945), ELOVL4 (605512), ENG (131195), EPM2A (607566), ERCC6 (609413), ERCC8 (609412), ETHE1 (608451), EXT2 (608210), FA2H (611026), FAM111A (615292), FARS2 (611592), FASTKD2 (612322), FBP1 (611570), FBXL4 (605654), FGD1 (300546), FGF12 (601513), FH (136850), FKRP (606596), FKTN (607440), FLNA (300017), FOLR1 (136430), FOXG1 (164874), FOXRED1 (613622), FRMPD4 (300838), C9ORF4 (604574), FTL (134790), FUCA1 (612280), GABRA1 (137160), GABRB3 (137192), GABRD (137163), GABRG2 (137164), GAL (137035), GALC (606890), GAMT (601240), GATM (602360), GBA (606463), GCDH (608801), GCH1 (600225), GCK (138079), GCSH (238330), GFAP (137780), GFM1 (606639), GJA1 (121014), GJC2 (608803), GK (300474), GLA (300644), GLB1 (611458), GLDC (238300), GLI2 (165230), GLRA1 (138491), GLUD1 (138130), GLUL (138290), GM2A (613109), GNAO1 (139311), GNAQ (600998), GNE (603824), GNS (607664), GOSR2 (604027), GPC3 (300037), GPHN (603930), GPR56 (604110), GPR98 (602851), GRIA3 (305915), GRIN1 (138249), GRIN2A (138253), GRIN2B (138252), GRIN2D (602717), GRN (138945), GSS (601002), GUF1 (617064), GYS2 (138571), HADH (601609), HCCS (300056), HCFC1 (300019), HCN1 (602780), HCN4 (605206), HECW2 (617245), HEPACAM (611642), HEXA (606869), HGSNAT (610453), HLCS (609018), HMBS (609806), HNRNPH2 (300610), HPD (609695), HRAS (190020), HSD17B10 (300256), HSD17B4 (601860), HSPD1 (118190), IBA57 (615316), IDS (300823), IER3IP1 (609382), IQSEC2 (300522), ITPA (147520), KIAA1267 (612452), KCNA1 (176260), KCNB1 (600397), KCNC1 (176258), KCNH2 (152427), KCNJ1 (600359), KCNJ11 (600937), KCNMA1 (600150), KCNQ2 (602235), KCNQ3 (602232), KCNT1 (608167), KCTD7 (611725), KDM5C (314690), KDM6A (300128), KIAA2022 (300524), KIF2A (602591), KIF7 (611254), MLL2 (602113), KRAS (190070), L1CAM (308840), L2HGDH (609584), LAMA2 (156225), LAMB1 (150240), LAMC3 (604349), LARGE (603590), LARS2 (604544), LGI1 (604619), LIAS (607031), LYST (606897), MAGI2 (606382), MANBA (609489), MBD5 (611472), MBOAT7 (606048), MBTPS2 (300294), MCCC1 (609010), MCPH1 (607117), MECP2 (300005), MED12 (300188), MEF2C (600662), MFSD2A (614397), MFSD8 (611124), MGAT2 (602616), MLC1 (605908), MLYCD (606761), MMAA (607481), MMACHC (609831), MMADHC (611935), MOCS1 (603707), MOCS2 (603708), MOGS (601336), MPDZ (603785), MRPS22 (605810), MTHFR (607093), MTR (156570), MTRR (602568), MYH3 (160720), NAA10 (300013), NAGA (104170), NAGLU (609701), NAGS (608300), NANS (605202), APOA1BP (608862), NDUFA1 (300078), NDUFA10 (603835), NDUFA11 (612638), NDUFA12 (614530), NDUFA2 (602137), NDUFA9 (603834), NDUFAF1 (606934), NDUFAF2 (609653), NDUFAF3 (612911), NDUFAF4 (611776), NDUFB11 (300403), NDUFB3 (603839), NDUFB9 (601445), NDUFS1 (157655), NDUFS2 (602985), NDUFS3 (603846), NDUFS4 (602694), NDUFS6 (603848), NDUFS7 (601825), NDUFS8 (602141), NDUFV1 (161015), NDUFV2 (600532), NECAP1 (611623), NEU1 (608272), NGLY1 (610661), NHLRC1 (608072), NIPBL (608667), NLGN4X (300427), NOL3 (605235), NOTCH3 (600276), NPC1 (607623), NPC2 (601015), NPRL2 (607072), NPRL3 (600928), NRAS (164790), NRXN1 (600565), NSD1 (606681), NSDHL (300275), NUBPL (613621), OCLN (602876), OCRL (300535), OFD1 (300170), OMG (164345), OPHN1 (300127), OTC (300461), PACS1 (607492), PAFAH1B1 (601545), PAH (612349), PAK3 (300142), PANK2 (606157), PAX6 (607108), PC (608786), PCDH19 (300460), PDCD10 (609118), PDHA1 (300502), PDHX (608769), PDP1 (605993), PDSS2 (610564), PEX1 (602136), PEX2 (170993), PEX5 (600414), PEX7 (601757), PGAP3 (611801), PGBD3 (609413), PGK1 (311800), PHF6 (300414), PHGDH (606879), PIGA (311770), PIGL (605947), PIGM (610273), PIGN (606097), PIGO (614730), PIGT (610272), PIGV (610274), PIGY (610662), PIK3CA (171834), PIK3R2 (603157), PLA2G6 (603604), PLCB1 (607120), PLEKHG2 (611893), PLP1 (300401), PMM2 (601785), PNKD (609023), PNKP (605610), PNPO (603287), POLG (174763), POLG2 (604983), POMGNT1 (606822), POMT1 (607423), POMT2 (607439), PPT1 (600722), PQBP1 (300463), PRICKLE1 (608500), PRICKLE2 (608501), PRMT7 (610087), PROSC (604436), PRPS1 (311850), PRRT2 (614386), PSAP (176801), PSEN1 (104311), PSPH (172480), PTCH1 (601309), PTEN (601728), PTS (612719), PURA (600473), PUS3 (616283), QDPR (612676), RAB39B (300774), RAI1 (607642), RARS2 (611524), RELN (600514), RFT1 (611908), RMND1 (614917), RNASEH1 (604123), RNASEH2A (606034), RNASEH2B (610326), RNASEH2C (610330), ROGDI (614574), RPS6KA3 (300075), RRM2B (604712), RTTN (610436), RYR2 (180902), SAMHD1 (606754), SASS6 (609321), SATB2 (608148), SCARB2 (602257), SCN1A (182389), SCN1B (600235), SCN2A (182390), SCN3A (182391), SCN8A (600702), SCN9A (603415), SCO1 (603644), SDHA (600857), SDHAF1 (612848), SDHD (602690), SEPSECS (613009), SERPINI1 (602445), SETBP1 (611060), SETD2 (612778), SGCE (604149), SGSH (605270), SHANK3 (606230), SHH (600725), SIX3 (603714), SLC12A1 (600839), SLC12A3 (600968), SLC12A6 (604878), SLC13A5 (608305), SLC16A1 (600682), SLC17A5 (604322), SLC19A2 (603941), SLC19A3 (606152), SLC1A2 (600300), SLC25A1 (190315), SLC25A12 (603667), SLC25A19 (606521), SLC25A20 (613698), SLC25A22 (609302), SLC2A1 (138140), SLC35A2 (314375), SLC35C1 (605881), SLC46A1 (611672), SLC6A1 (137165), SLC6A8 (300036), SLC6A9 (601019), SLC9A6 (300231), SMAD4 (600993), SMARCA2 (600014), SMARCB1 (601607), SMC1A (300040), SMC3 (606062), SMS (300105), SNAP25 (600322), SNAP29 (604202), SNORD118 (616663), SON (182465), SPR (182125), SPTAN1 (182810), SRPX2 (300642), ST3GAL3 (606494), ST3GAL5 (604402), STIL (181590), STRADA (608626), STX1B (601485), STXBP1 (602926), SUCLA2 (603921), SUOX (606887), SURF1 (185620), SYN1 (313440), SYNGAP1 (603384), SYP (313475), SZT2 (615463), TACO1 (612958), TBC1D24 (613577), TBCD (604649), TBL1XR1 (608628), TBX1 (602054), TCF4 (602272), TMTC3 (617218), TPP1 (607998), TREM2 (605086), TREX1 (606609), TSC1 (605284), TSC2 (191092), TSEN54 (608755), TSFM (604723), TTR (176300), TUBA1A (602529), TUBA8 (605742), TUBB2A (615101), TUBB2B (612850), TUBB4 (602662), TUBG1 (191135), TYROBP (604142), UBA5 (610552), UBE2A (312180), UBE3A (601623), VPS53 (615850), WDR45 (300526), WDR62 (613583), WFS1 (606201), WWOX (605131), XPA (611153), ZC4H2 (300897), ZDHHC9 (300646), ZEB2 (605802).


    Kampsamlı Distoni (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 192 Gen + mtDNA)

    AARS (601065), AARS2 (612035), ABCD1 (300371), ACOX1 (609751), ACTB (102630), ADAR (146920), ADCY5 (600293), ADD3 (601568), ADH1C (103730), AFG3L2 (604581), ALDH6A1 (603178), ALS2 (606352), AP1S2 (300629), AP3B2 (602166), AP3D1 (607246), AP4B1 (607245), APTX (606350), ARSA (607574), ARX (300382), ATM (607585), ATP13A2 (610513), ATP1A2 (182340), ATP1A3 (182350), ATP7B (606882), ATXN2 (601517), ATXN3 (607047), AUH (600529), B4GALNT1 (601873), BCL11B (606558), BCS1L (603647), BICD2 (609797), BSCL2 (606158), C19orf12 (614297), CACNA1A (601011), CACNA1B (601012), CARS2 (612800), CHMP2B (609512), CIT (605629), COASY (609855), COL4A1 (120130), COL6A3 (120250), COQ9 (612837), COX10 (602125), COX15 (603646), CP (117700), CYP27A1 (606530), DCAF17 (612515), DDC (107930), DLAT (608770), DLD (238331), DNAJC12 (606060), DNAJC6 (608375), DPYS (613326), DRD5 (126453), DYNC1H1 (600112), EARS2 (612799), ECHS1 (602292), ERCC6 (609413), ERCC8 (609412), FA2H (611026), FASTKD2 (612322), FBXL4 (605654), FBXO7 (605648), FOXG1 (164874), FOXRED1 (613622), C9ORF4 (604574), FTL (134790), GAMT (601240), GBA (606463), GCDH (608801), GCH1 (600225), GJA1 (121014), GJC2 (608803), GLB1 (611458), GM2A (613109), GNAO1 (139311), GRIK2 (138244), GTF2H5 (608780), HNRNPH2 (300610), HPRT1 (308000), HTRA2 (606441), HTT (613004), IFIH1 (606951), KCNMA1 (600150), KCNQ2 (602235), MLL4 (606834), L2HGDH (609584), MAPT (157140), MARS2 (609728), MAT1A (610550), MCOLN1 (605248), MDH2 (154100), MECP2 (300005), MECR (608205), MICU1 (605084), MMADHC (611935), MPV17 (137960), MRE11A (600814), MTO1 (614667), NDUFA10 (603835), NDUFA12 (614530), NDUFA2 (602137), NDUFA9 (603834), NDUFAF2 (609653), C8ORF38 (612392), NDUFS3 (603846), NDUFS4 (602694), NDUFS7 (601825), NDUFS8 (602141), NPC1 (607623), NPC2 (601015), OCLN (602876), PAH (612349), PANK2 (606157), PARK2 (602544), PDGFB (190040), PDGFRB (173410), PDHA1 (300502), PDHX (608769), PINK1 (608309), PLA2G6 (603604), PLEKHG2 (611893), PLP1 (300401), PNKD (609023), PNKP (605610), PNPT1 (610316), POLR3A (614258), PPP2R2B (604325), PRKCG (176980), PRKRA (603424), PRRT2 (614386), PSEN1 (104311), PSMB8 (177046), PTEN (601728), PTS (612719), QDPR (612676), RLIM (300379), RNASEH1 (604123), RNASEH2A (606034), RNASEH2B (610326), RNASEH2C (610330), SAMHD1 (606754), SCP2 (184755), SDHA (600857), SDHAF1 (612848), SDHD (602690), SERAC1 (614725), SETX (608465), SGCE (604149), SLC19A3 (606152), SLC20A2 (158378), SLC2A1 (138140), SLC30A10 (611146), SLC39A14 (608736), SLC46A1 (611672), SLC6A3 (126455), SLC6A8 (300036), SNCA (163890), SNORD118 (616663), SPR (182125), SQSTM1 (601530), SUCLA2 (603921), SUOX (606887), SURF1 (185620), SYNJ1 (604297), TAF1 (313650), TBC1D24 (613577), TBP (600075), TELO2 (611140), TH (191290), THAP1 (609520), TIMM8A (300356), TOR1A (605204), TPI1 (190450), TPK1 (606370), TREM2 (605086), TREX1 (606609), TSEN2 (608753), TSFM (604723), TTC19 (613814), TUBB4 (602662), TYROBP (604142), UBA5 (610552), UBQLN2 (300264), UQCRQ (612080), VAC14 (604632), VAMP1 (185880), VCP (601023), VPS37A (609927), WDR45 (300526), ZC4H2 (300897), ZNF592 (613624).


    Kampsamlı Distoni (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 192 Gen + mtDNA + HTT Tekrar Sayısı Analizi)

    AARS (601065), AARS2 (612035), ABCD1 (300371), ACOX1 (609751), ACTB (102630), ADAR (146920), ADCY5 (600293), ADD3 (601568), ADH1C (103730), AFG3L2 (604581), ALDH6A1 (603178), ALS2 (606352), AP1S2 (300629), AP3B2 (602166), AP3D1 (607246), AP4B1 (607245), APTX (606350), ARSA (607574), ARX (300382), ATM (607585), ATP13A2 (610513), ATP1A2 (182340), ATP1A3 (182350), ATP7B (606882), ATXN2 (601517), ATXN3 (607047), AUH (600529), B4GALNT1 (601873), BCL11B (606558), BCS1L (603647), BICD2 (609797), BSCL2 (606158), C19orf12 (614297), CACNA1A (601011), CACNA1B (601012), CARS2 (612800), CHMP2B (609512), CIT (605629), COASY (609855), COL4A1 (120130), COL6A3 (120250), COQ9 (612837), COX10 (602125), COX15 (603646), CP (117700), CYP27A1 (606530), DCAF17 (612515), DDC (107930), DLAT (608770), DLD (238331), DNAJC12 (606060), DNAJC6 (608375), DPYS (613326), DRD5 (126453), DYNC1H1 (600112), EARS2 (612799), ECHS1 (602292), ERCC6 (609413), ERCC8 (609412), FA2H (611026), FASTKD2 (612322), FBXL4 (605654), FBXO7 (605648), FOXG1 (164874), FOXRED1 (613622), C9ORF4 (604574), FTL (134790), GAMT (601240), GBA (606463), GCDH (608801), GCH1 (600225), GJA1 (121014), GJC2 (608803), GLB1 (611458), GM2A (613109), GNAO1 (139311), GRIK2 (138244), GTF2H5 (608780), HNRNPH2 (300610), HPRT1 (308000), HTRA2 (606441), HTT (613004), IFIH1 (606951), KCNMA1 (600150), KCNQ2 (602235), MLL4 (606834), L2HGDH (609584), MAPT (157140), MARS2 (609728), MAT1A (610550), MCOLN1 (605248), MDH2 (154100), MECP2 (300005), MECR (608205), MICU1 (605084), MMADHC (611935), MPV17 (137960), MRE11A (600814), MTO1 (614667), NDUFA10 (603835), NDUFA12 (614530), NDUFA2 (602137), NDUFA9 (603834), NDUFAF2 (609653), C8ORF38 (612392), NDUFS3 (603846), NDUFS4 (602694), NDUFS7 (601825), NDUFS8 (602141), NPC1 (607623), NPC2 (601015), OCLN (602876), PAH (612349), PANK2 (606157), PARK2 (602544), PDGFB (190040), PDGFRB (173410), PDHA1 (300502), PDHX (608769), PINK1 (608309), PLA2G6 (603604), PLEKHG2 (611893), PLP1 (300401), PNKD (609023), PNKP (605610), PNPT1 (610316), POLR3A (614258), PPP2R2B (604325), PRKCG (176980), PRKRA (603424), PRRT2 (614386), PSEN1 (104311), PSMB8 (177046), PTEN (601728), PTS (612719), QDPR (612676), RLIM (300379), RNASEH1 (604123), RNASEH2A (606034), RNASEH2B (610326), RNASEH2C (610330), SAMHD1 (606754), SCP2 (184755), SDHA (600857), SDHAF1 (612848), SDHD (602690), SERAC1 (614725), SETX (608465), SGCE (604149), SLC19A3 (606152), SLC20A2 (158378), SLC2A1 (138140), SLC30A10 (611146), SLC39A14 (608736), SLC46A1 (611672), SLC6A3 (126455), SLC6A8 (300036), SNCA (163890), SNORD118 (616663), SPR (182125), SQSTM1 (601530), SUCLA2 (603921), SUOX (606887), SURF1 (185620), SYNJ1 (604297), TAF1 (313650), TBC1D24 (613577), TBP (600075), TELO2 (611140), TH (191290), THAP1 (609520), TIMM8A (300356), TOR1A (605204), TPI1 (190450), TPK1 (606370), TREM2 (605086), TREX1 (606609), TSEN2 (608753), TSFM (604723), TTC19 (613814), TUBB4 (602662), TYROBP (604142), UBA5 (610552), UBQLN2 (300264), UQCRQ (612080), VAC14 (604632), VAMP1 (185880), VCP (601023), VPS37A (609927), WDR45 (300526), ZC4H2 (300897), ZNF592 (613624).


    Kampsamlı Demans (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 95 Gen)

    A2M (103950), ABCD1 (300371), ACE (106180), ACSF3 (614245), ADH1C (103730), AMN (605799), APOE (107741), APP (104760), APTX (606350), ATP13A2 (610513), ATP7B (606882), ATXN2 (601517), BIN1 (601248), C19orf12 (614297), C9orf72 (614260), CCDC88A (609736), CD2AP (604241), CHMP2B (609512), CLN3 (607042), CLN6 (606725), CP (117700), CR1 (120620), CSF1R (164770), CST3 (604312), CTSF (603539), CUBN (602997), DCAF17 (612515), DNAJC5 (611203), DNMT1 (126375), ERCC8 (609412), FTL (134790), FUS (137070), GBA (606463), GBE1 (607839), GCDH (608801), GIGYF2 (612003), GM2A (613109), GRN (138945), HEXA (606869), HFE (613609), HNRNPA2B1 (600124), HSD17B10 (300256), HTRA1 (602194), HTT (613004), ITM2B (603904), MAPT (157140), MLYCD (606761), MMACHC (609831), MPO (606989), MS4A2 (147138), NDP (300658), NOS3 (163729), NOTCH3 (600276), NPC1 (607623), NPC2 (601015), OMG (164345), PANK2 (606157), PDE11A (604961), PDGFRB (173410), PLAU (191840), POLG (174763), PPT1 (600722), PRKCG (176980), PRNP (176640), PSEN1 (104311), PSEN2 (600759), PTEN (601728), SERPINI1 (602445), SLC1A4 (600229), SNCA (163890), SNCB (602569), SNORD118 (616663), SNRPB (182282), SON (182465), SPAST (604277), SPG21 (608181), SPG7 (602783), SQSTM1 (601530), TARDBP (605078), TBL1X (300196), TBP (600075), TIMM8A (300356), TREM2 (605086), TTR (176300), TYROBP (604142), UBQLN2 (300264), UCHL1 (191342), VAC14 (604632), VAMP1 (185880), VCP (601023), VPS33A (610034), VPS35 (601501), WDR45 (300526), ZC4H2 (300897), ZNF148 (601897).


    Kampsamlı Demans (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 95 Gen + HTT Tekrar Sayısı Analizi)

    A2M (103950), ABCD1 (300371), ACE (106180), ACSF3 (614245), ADH1C (103730), AMN (605799), APOE (107741), APP (104760), APTX (606350), ATP13A2 (610513), ATP7B (606882), ATXN2 (601517), BIN1 (601248), C19orf12 (614297), C9orf72 (614260), CCDC88A (609736), CD2AP (604241), CHMP2B (609512), CLN3 (607042), CLN6 (606725), CP (117700), CR1 (120620), CSF1R (164770), CST3 (604312), CTSF (603539), CUBN (602997), DCAF17 (612515), DNAJC5 (611203), DNMT1 (126375), ERCC8 (609412), FTL (134790), FUS (137070), GBA (606463), GBE1 (607839), GCDH (608801), GIGYF2 (612003), GM2A (613109), GRN (138945), HEXA (606869), HFE (613609), HNRNPA2B1 (600124), HSD17B10 (300256), HTRA1 (602194), HTT (613004), ITM2B (603904), MAPT (157140), MLYCD (606761), MMACHC (609831), MPO (606989), MS4A2 (147138), NDP (300658), NOS3 (163729), NOTCH3 (600276), NPC1 (607623), NPC2 (601015), OMG (164345), PANK2 (606157), PDE11A (604961), PDGFRB (173410), PLAU (191840), POLG (174763), PPT1 (600722), PRKCG (176980), PRNP (176640), PSEN1 (104311), PSEN2 (600759), PTEN (601728), SERPINI1 (602445), SLC1A4 (600229), SNCA (163890), SNCB (602569), SNORD118 (616663), SNRPB (182282), SON (182465), SPAST (604277), SPG21 (608181), SPG7 (602783), SQSTM1 (601530), TARDBP (605078), TBL1X (300196), TBP (600075), TIMM8A (300356), TREM2 (605086), TTR (176300), TYROBP (604142), UBQLN2 (300264), UCHL1 (191342), VAC14 (604632), VAMP1 (185880), VCP (601023), VPS33A (610034), VPS35 (601501), WDR45 (300526), ZC4H2 (300897), ZNF148 (601897).


    Kampsamlı Demans (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 95 Gen + C9orf72 Tekrar Sayısı Analizi)

    A2M (103950), ABCD1 (300371), ACE (106180), ACSF3 (614245), ADH1C (103730), AMN (605799), APOE (107741), APP (104760), APTX (606350), ATP13A2 (610513), ATP7B (606882), ATXN2 (601517), BIN1 (601248), C19orf12 (614297), C9orf72 (614260), CCDC88A (609736), CD2AP (604241), CHMP2B (609512), CLN3 (607042), CLN6 (606725), CP (117700), CR1 (120620), CSF1R (164770), CST3 (604312), CTSF (603539), CUBN (602997), DCAF17 (612515), DNAJC5 (611203), DNMT1 (126375), ERCC8 (609412), FTL (134790), FUS (137070), GBA (606463), GBE1 (607839), GCDH (608801), GIGYF2 (612003), GM2A (613109), GRN (138945), HEXA (606869), HFE (613609), HNRNPA2B1 (600124), HSD17B10 (300256), HTRA1 (602194), HTT (613004), ITM2B (603904), MAPT (157140), MLYCD (606761), MMACHC (609831), MPO (606989), MS4A2 (147138), NDP (300658), NOS3 (163729), NOTCH3 (600276), NPC1 (607623), NPC2 (601015), OMG (164345), PANK2 (606157), PDE11A (604961), PDGFRB (173410), PLAU (191840), POLG (174763), PPT1 (600722), PRKCG (176980), PRNP (176640), PSEN1 (104311), PSEN2 (600759), PTEN (601728), SERPINI1 (602445), SLC1A4 (600229), SNCA (163890), SNCB (602569), SNORD118 (616663), SNRPB (182282), SON (182465), SPAST (604277), SPG21 (608181), SPG7 (602783), SQSTM1 (601530), TARDBP (605078), TBL1X (300196), TBP (600075), TIMM8A (300356), TREM2 (605086), TTR (176300), TYROBP (604142), UBQLN2 (300264), UCHL1 (191342), VAC14 (604632), VAMP1 (185880), VCP (601023), VPS33A (610034), VPS35 (601501), WDR45 (300526), ZC4H2 (300897), ZNF148 (601897).


    Kampsamlı Demans (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 95 Gen + C9orf72 & HTT Tekrar Sayısı Analizi)

    A2M (103950), ABCD1 (300371), ACE (106180), ACSF3 (614245), ADH1C (103730), AMN (605799), APOE (107741), APP (104760), APTX (606350), ATP13A2 (610513), ATP7B (606882), ATXN2 (601517), BIN1 (601248), C19orf12 (614297), C9orf72 (614260), CCDC88A (609736), CD2AP (604241), CHMP2B (609512), CLN3 (607042), CLN6 (606725), CP (117700), CR1 (120620), CSF1R (164770), CST3 (604312), CTSF (603539), CUBN (602997), DCAF17 (612515), DNAJC5 (611203), DNMT1 (126375), ERCC8 (609412), FTL (134790), FUS (137070), GBA (606463), GBE1 (607839), GCDH (608801), GIGYF2 (612003), GM2A (613109), GRN (138945), HEXA (606869), HFE (613609), HNRNPA2B1 (600124), HSD17B10 (300256), HTRA1 (602194), HTT (613004), ITM2B (603904), MAPT (157140), MLYCD (606761), MMACHC (609831), MPO (606989), MS4A2 (147138), NDP (300658), NOS3 (163729), NOTCH3 (600276), NPC1 (607623), NPC2 (601015), OMG (164345), PANK2 (606157), PDE11A (604961), PDGFRB (173410), PLAU (191840), POLG (174763), PPT1 (600722), PRKCG (176980), PRNP (176640), PSEN1 (104311), PSEN2 (600759), PTEN (601728), SERPINI1 (602445), SLC1A4 (600229), SNCA (163890), SNCB (602569), SNORD118 (616663), SNRPB (182282), SON (182465), SPAST (604277), SPG21 (608181), SPG7 (602783), SQSTM1 (601530), TARDBP (605078), TBL1X (300196), TBP (600075), TIMM8A (300356), TREM2 (605086), TTR (176300), TYROBP (604142), UBQLN2 (300264), UCHL1 (191342), VAC14 (604632), VAMP1 (185880), VCP (601023), VPS33A (610034), VPS35 (601501), WDR45 (300526), ZC4H2 (300897), ZNF148 (601897).


    Kampsamlı Kardiyomiyopati (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 129 Gen + mtDNA)

    ABCC9 (601439), ACADS (606885), ACADVL (609575), ACTC1 (102540), ACTN2 (102573), ANKRD1 (609599), ARL6 (608845), BAG3 (603883), BBS1 (209901), BBS10 (610148), BBS12 (610683), BBS2 (606151), BBS4 (600374), BBS5 (603650), BBS7 (607590), BBS9 (607968), BMP2 (112261), BMPR2 (600799), BRAF (164757), CALR3 (611414), CASQ2 (114251), CAV1 (601047), CAV3 (601253), CCDC28B (610162), CEP290 (610142), COX15 (603646), CPT1A (600528), CPT2 (600650), CRYAB (123590), CSRP3 (600824), DES (125660), DMD (300377), DNAJC19 (608977), DSC2 (125645), DSG2 (125671), DSP (125647), DTNA (601239), EIF2AK4 (609280), EMD (300384), EYA4 (603550), FAH (613871), FGA (134820), FHL1 (300163), FKTN (607440), FLAD1 (610595), FTH1 (134770), FXN (606829), GATAD1 (614518), GBE1 (607839), GJA1 (121014), GLA (300644), GYG1 (603942), GYS1 (138570), HAMP (606464), HFE (613609), HFE2 (608374), ITGA7 (600536), JPH2 (605267), JUP (173325), KCNJ2 (600681), KRAS (190070), LAMP2 (309060), LDB3 (605906), LMNA (150330), MKKS (604896), MKS1 (609883), MLYCD (606761), MMACHC (609831), MTO1 (614667), MYBPC3 (600958), MYH6 (160710), MYH7 (160760), MYL2 (160781), MYL3 (160790), MYLK2 (606566), MYOM1 (603508), MYOZ2 (605602), MYPN (608517), NEXN (613121), NPPA (108780), NRAS (164790), NSMCE2 (617246), PKP2 (602861), PLEC (601282), PLN (172405), PRDM16 (605557), PRKAG2 (602743), PSEN1 (104311), PSEN2 (600759), PTPN11 (176876), PYROXD1 (617220), RAD51C (602774), RAF1 (164760), RBCK1 (610924), RBM20 (613171), RIT1 (609591), RYR2 (180902), SCN5A (600163), SDHA (600857), SGCD (601411), SLC19A2 (603941), SLC22A5 (603377), SLC25A20 (613698), SLC25A4 (103220), SLC40A1 (604653), SMAD9 (603295), SOS1 (182530), SPEG (615950), SYNE2 (608442), TAZ (300394), TBX20 (606061), TCAP (604488), TFR2 (604720), TGFB3 (190230), TMEM43 (612048), TMEM67 (609884), TNNC1 (191040), TNNI3 (191044), TNNT2 (191045), TPM1 (191010), TRIM32 (602290), TTC8 (608132), TTN (188840), TTR (176300), VCL (193065), VCP (601023), VPS33A (610034), WDPCP (613580), WFS1 (606201).


    Koenzim Q10 Eksikliği (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 12 Gen)

    ADCK3 (606980), ANO10 (613728), APTX (606350), BRAF (164757), COQ2 (609825), COQ4 (612898), COQ6 (614647), COQ7 (601683), COQ9 (612837), MVK (251170), PDSS1 (607429), PDSS2 (610564).


    Karbonhidrat Metabolizması Eksikliği (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 47 Gen + mtDNA)

    AGL (610860), ALDOA (103850), ALDOB (612724), BPGM (613896), CALM1 (114180), CALM2 (114182), ENO3 (131370), FBP1 (611570), G6PC (613742), G6PC3 (611045), G6PD (305900), GAA (606800), GBE1 (607839), GCK (138079), GPI (172400), GPT2 (138210), GYG1 (603942), GYS1 (138570), GYS2 (138571), HK1 (142600), KHK (614058), LAMP2 (309060), LDHA (150000), LDHB (150100), PC (608786), PCK1 (614168), PFKM (610681), PGAM2 (612931), PGK1 (311800), PGM1 (171900), PGM3 (172100), PHKA1 (311870), PHKA2 (300798), PHKB (172490), PHKG2 (172471), PKLR (609712), PRKAG2 (602743), PRKAG3 (604976), PYGL (613741), PYGM (608455), SI (609845), SLC2A1 (138140), SLC2A10 (606145), SLC2A2 (138160), SLC37A4 (602671), TKT (606781), TPI1 (190450).


    Kanser Hotspot Panel

    Coverianing Most Frequent Mutations in Genes ABL1, AKT1, ALK, APC, ATM, BRAF, CDH1, CDKN2A, CSF1R, CTNNB1, EGFR, ERBB2, ERBB4, EZH2, FBXW7, FGFR1, FGFR2, FGFR3, GNA11, GNAQ, GNAS, HNF1A, HRAS, IDH1, IDH2, JAK2, JAK3, KDR, KIT, KRAS, MET, MLH1, MPL, NOTCH1, NPM1, NRAS, PDGFRA, PIK3CA, PTEN, PTPN11, RB1, RET, SMAD4, SMARCB1, SMO, SRC, STK11, TP53, VHL


    Kronik Miyeloid Lösemi (KML) Paneli

    t(9;22)(q34;q11.2),FIP1L1/PDGFR (4q12)


    Kronik Lenfositik Lösemi (KLL) Paneli

    Kromozom 12, D13S319 (13q14.3), P53 (17p13.1), CCND1/IGH [t(11;14)(q13;q32)], IGH/BCL2 [t(14;18)(q32;q21)]


    Kolon Kanseri Paneli, Polipozis ile Eşlik Eden

    APC, BMPR1A, MUTYH, PTEN, SMAD4, STK11


    Kolon Kanseri Genişletilmiş Panel

    APC, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TP53


    Klinik Ekzom

    Hedef Mutasyon