• Serebellar Ataksi (Panel)

    COQ8A, APTX, COQ2, COQ9, DNMT1, FXN, PDSS1, PDSS2, POLG, SACS, SETX, SYNE1, TTPA, VLDLR


    Serebellar Ataksi (Delesyon&Duplikasyon)

    SLC2A1, POLG, SETX, VLDLR, APTX, SACS, FXN


    Seroid Lipofusinoz (Panel)

    ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1, TPP1


    Spinoserebellar Ataksi

    ABCB7, ABHD12, ABHD5, ACADVL, COQ8A, AFG3L2, ANO10, APTX, ATCAY, ATM, ATP2B3, C10orf2, CA8, CACNA1A, CCDC88C, CWF19L1, DNMT1, EEF2, ELOVL4, ELOVL5, FGF14, FXN, GRID2, GRM1, ITPR1, KCNC3, KCND3, PDYN, PRKCG, RUBCN, SACS, SETX, SIL1, SLC1A3, SPTBN2, STUB1, SYNE1, SYT14, TDP1, TGM6, TPP1, TTBK2, TTPA, VAMP1, WWOX, ZNF592


    Spinoserebellar Ataksi

    ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, BEAN1, CACNA1A, FXN, NOP56, PPP2R2B, TBP


    Spinoserebellar Ataksi (Panel)

    ABCB7, ABHD12, ABHD5, ACADVL, AFG3L2, ANO10, APTX, ATCAY, ATM, ATP2B3, C10orf2, CA8, CACNA1A, CCDC88C, COQ8A, CWF19L1, DNMT1, EEF2, ELOVL4, ELOVL5, FGF14, FXN, GRID2, GRM1, ITPR1, KCNC3, KCND3, PDYN, PRKCG, RUBCN, SACS, SETX, SIL1, SLC1A3, SPTBN2, STUB1, SYNE1, SYT14, TDP1, TGM6, TPP1, TTBK2, TTPA, VAMP1, WWOX, ZNF592


    Spinoserebellar Ataksi (Delesyon&Duplikasyon)

    SLC2A1, PDYN, SETX, WWOX, APTX, SACS, FXN, ATM, CACNA1A, TWNK, ACADVL


    Seckel Sendromu (Panel)

    ATR, RBBP8, CENPJ, CEP152, CEP63, ATRIP


    SMN Negatif Spinal Müsküler Atrofi (Panel)

    ATP7A, BICD2, BSCL2, CHCHD10, DCTN1, DNAJB2, DYNC1H1, EXOSC3, EXOSC8, FBXO38, GARS, HSPB1, HSPB3, HSPB8, IGHMBP2, TRPV4, UBA1, VAPB


    Spastik Parapleji (Panel)

    ALDH18A1, ALS2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ARSI, ATL1, ATP2B4, B4GALNT1, BICD2, BSCL2, C12ORF65, C19orf12, CCT5, CYP2U1, CYP7B1, DDHD1, DDHD2, ENTPD1, ERLIN1, ERLIN2, EXOSC3, FA2H, FLRT1, GBA2, GJC2, HSPD1, KIAA0196, KIF1A, KIF1C, KIF5A, L1CAM, MAG, MARS, NIPA1, NT5C2, PGAP1, PLP1, PNPLA6, RAB3GAP2, REEP1, REEP2, RTN2, SACS, SLC16A2, SLC33A1, SPAST, SPG11, SPG20, SPG21, SPG7, TECPR2, TFG, TTR, USP8, VAMP1, VPS37A, WDR48, ZFR, ZFYVE26, ZFYVE27


    Spastik Parapleji (Delesyon&Duplikasyon)

    NIPA1, REEP1, SACS, PLP1, SPG7, ATL1, SPG11, SPAST, L1CAM


    Spastik Parapleji, Otozomal Dominant (Panel)

    ALDH18A1, ATL1, ATP2B4, BICD2, BSCL2, HSPD1, KIAA0196, KIF5A, NIPA1, REEP1, RTN2, SLC33A1, SPAST, TTR, VAMP1, ZFYVE27


    Spastik Parapleji, Otozomal Resesif (Panel)

    ALS2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ARSI, B4GALNT1, C12ORF65, C19orf12, CCT5, CYP2U1, CYP7B1, DDHD1, DDHD2, ENTPD1, ERLIN1, ERLIN2, EXOSC3, FA2H, FLRT1, GBA2, GJC2, KIF1A, KIF1C, L1CAM, MAG, NT5C2, PLP1, PNPLA6, REEP2, SACS, SLC16A2, SPG11, SPG20, SPG21, SPG7, TECPR2, TFG, USP8, VPS37A, WDR48, ZFYVE26


    Sferositoz (Panel)

    ANK1, EPB42, SLC4A1, SPTA1, SPTB


    Stargardt Hastalığı (Panel)

    ABCA4, BEST1, C1QTNF5, CDH3, CNGB3, ELOVL4, FSCN2, PROM1, PRPH2, RDH12, RP1L1, RPGR, TIMP3


    Stargardt Hastalığı (Delesyon&Duplikasyon)

    BEST1, ABCA4, RPGR, RDH12, PRPH2


    Stickler Sendromu (Panel)

    COL2A1, COL9A1, COL9A2, COL11A1, COL11A2


    Sürfaktan Metabolizması Disfonksiyonu (Panel)

    ABCA3, CSF2RA, CSF2RB, SFTPA1, SFTPB, SFTPC, SFTPD


    Sendromik Otizm (Panel)

    ADNP, ADSL, ALDH5A1, AMT, ANKRD11, ARID1B, BRAF, CACNA1C, CDKL5, CHD2, CHD7, CNTNAP2, CREBBP, DHCR7, EHMT1, FOXG1, FOXP1, GRIP1, HDAC8, HOXA1, HPRT1, MAgeL2, MECP2, MED12, MID1, NHS, NIPBL, NRXN1, NSD1, PCDH19, POGZ, PQBP1, PTEN, PTPN11, RAD21, RAI1, SCN1A, SCN2A, SETD2, SLC6A1, SLC6A8, SMC1A, SMC3, TBL1XR1, TCF4, TSC1, TSC2, UBE3A, VPS13B, ZEB2


    Syndromic Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 686 Genes)

    AAAS (605378), AARS (601065), AARS2 (612035), ABAT (137150), ABCC8 (600509), ABCC9 (601439), ABCD1 (300371), ABHD5 (604780), ACE (106180), ACO2 (100850), ACOX1 (609751), ACTB (102630), ACTG1 (102560), ADAMTSL2 (612277), ADAR (146920), ADCK3 (606980), ADD3 (601568), ADNP (611386), AFF2 (300806), AGA (613228), AHCY (180960), AHDC1 (615790), AHI1 (608894), AIFM1 (300169), AKT2 (164731), AKT3 (611223), ALDH18A1 (138250), ALDH3A2 (609523), ALDH6A1 (603178), ALDOA (103850), ALDOB (612724), ALG1 (605907), ALG11 (613666), ALG2 (607905), ALG3 (608750), ALG9 (606941), AMPD2 (102771), 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), ARID1A (603024), ARID1B (614556), ARL13B (608922), ARL6 (608845), ARSA (607574), ARSB (611542), ARSE (300180), ARX (300382), ASAH1 (613468), ASL (608310), ASNS (108370), ASPM (605481), ASXL2 (612991), ATIC (601731), ATL1 (606439), ATP1A3 (182350), ATP2A2 (108740), ATP6V0A2 (611716), ATP7A (300011), ATP8A2 (605870), ATPAF2 (608918), ATRX (300032), 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), BCOR (300485), BCS1L (603647), BOLA3 (613183), BRAF (164757), BRPF1 (602410), BRWD3 (300553), BSCL2 (606158), BSND (606412), BTD (609019), C10ORF2 (606075), C12ORF57 (615140), C5ORF42 (614571), CA8 (114815), CACNA1C (114205), CAD (114010), CAMTA1 (611501), CASK (300172), CBL (165360), CBS (613381), CC2D2A (612013), CCDC22 (300859), CCDC28B (610162), CCDC88A (609736), CDC6 (602627), CDH15 (114019), CDKL5 (300203), CDKN1C (600856), CDON (608707), CDT1 (605525), CECR1 (607575), CENPJ (609279), CEP135 (611423), CEP152 (613529), CEP290 (610142), TSGA14 (610523), CHD4 (603277), CHD7 (608892), CHD8 (610528), CHKB (612395), CHMP1A (164010), CHST14 (608429), CIT (605629), CLCN4 (302910), CLCNKA (602024), CLCNKB (602023), CLIC2 (300138), CLN3 (607042), CLN5 (608102), CLN8 (607837), CLP1 (608757), CLPP (601119), 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), CREBBP (600140), CSPP1 (611654), CTDP1 (604927), CTSA (613111), CTSD (116840), CUL4B (300304), CYP27A1 (606530), D2HGDH (609186), DCAF17 (612515), DCPS (610534), DCX (300121), DDC (107930), DDHD2 (615003), DDOST (602202), DGUOK (601465), DHCR24 (606418), DHCR7 (602858), DHTKD1 (614984), DKC1 (300126), DLD (238331), DNA2 (601810), DNAJC19 (608977), 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), EEF1A2 (602959), EFEMP2 (604633), EHMT1 (607001), EIF2B1 (606686), EIF2B2 (606454), EIF2B3 (606273), EIF2B4 (606687), EIF2B5 (603945), ELOVL4 (605512), ERCC1 (126380), ERCC2 (126340), ERCC4 (133520), ERCC5 (133530), ERCC6 (609413), ERCC8 (609412), ERLIN2 (611605), ETFA (608053), ETFB (130410), ETFDH (231675), EXOSC3 (606489), EXT2 (608210), EZH2 (601573), FAM20C (611061), FANCA (607139), FARS2 (611592), FASTKD2 (612322), FBLN5 (604580), FBN1 (134797), FBXL4 (605654), FGD1 (300546), FGF14 (601515), FH (136850), FIG4 (609390), FKRP (606596), FLNA (300017), FLVCR2 (610865), FMR1 (309550), FOLR1 (136430), FOXG1 (164874), FOXRED1 (613622), FUCA1 (612280), GAMT (601240), GATA6 (601656), GATM (602360), GBA (606463), GBA2 (609471), GCH1 (600225), GCK (138079), GCSH (238330), GJA1 (121014), GJC2 (608803), GK (300474), GLB1 (611458), GLDC (238300), GLI2 (165230), GLI3 (165240), GMPPA (615495), GMPPB (615320), GNAQ (600998), GNE (603824), GNPAT (602744), GNPTAB (607840), GNPTG (607838), GNS (607664), GPC3 (300037), GPI (172400), GPR56 (604110), GPSM2 (609245), GRIN2B (138252), GRM1 (604473), GSS (601002), GUSB (611499), HADHA (600890), HADHB (143450), HCCS (300056), HDAC8 (300269), HGSNAT (610453), HLCS (609018), HMGB3 (300193), HNRNPH2 (300610), HOXA1 (142955), 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), INPP5E (613037), ISPD (614631), ITGA7 (600536), ITM2B (603904), ITPR1 (147265), JAG1 (601920), KIAA1267 (612452), KARS (601421), KCNJ1 (600359), KCNJ11 (600937), KCTD7 (611725), KDM5C (314690), KDM6A (300128), KIAA0196 (610657), KIDINS220 (615759), KIF7 (611254), KIRREL3 (607761), MLL2 (602113), KPTN (615620), KRAS (190070), KRT18 (148070), L1CAM (308840), LAMA2 (156225), 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), MAP2K1 (176872), MAP2K2 (601263), MBD5 (611472), MBTPS2 (300294), MCCC1 (609010), MCOLN1 (605248), MECP2 (300005), MED12 (300188), MED13L (608771), MED25 (610197), MEF2C (600662), METTL23 (615262), MGAT2 (602616), MID1 (300552), MKKS (604896), MKS1 (609883), MMAA (607481), MMAB (607568), MMACHC (609831), MMADHC (611935), MOCS1 (603707), MOGS (601336), 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), NANS (605202), NARS2 (612803), NDP (300658), 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), NEU1 (608272), NF1 (613113), NFIX (164005), NFU1 (608100), NGF (162030), NGLY1 (610661), NHLRC1 (608072), NHS (300457), NIPBL (608667), NKX2-5 (600584), NLGN3 (300336), NPC1 (607623), NPC2 (601015), NPHP1 (607100), NPR2 (108961), NRAS (164790), NRXN1 (600565), NSD1 (606681), WHSC1 (602952), NSDHL (300275), NSMCE2 (617246), NSUN2 (610916), NTRK1 (191315), NUBPL (613621), OCLN (602876), OCRL (300535), OFD1 (300170), OPA1 (605290), OPHN1 (300127), ORC1 (601902), ORC4 (603056), ORC6 (607213), OTC (300461), LEPRE1 (610339), PACS1 (607492), PAK3 (300142), PANK2 (606157), PARN (604212), PC (608786), PDE6D (602676), PDGFRB (173410), PDHA1 (300502), PDHX (608769), PDP1 (605993), PDSS1 (607429), PEX1 (602136), PEX12 (601758), PEX2 (170993), PEX5 (600414), PEX7 (601757), PGAP1 (611655), PGAP3 (611801), 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), PLEKHG2 (611893), PLOD3 (603066), PMM2 (601785), PNKP (605610), PNPLA6 (603197), PNPO (603287), 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), PSAP (176801), PSMB8 (177046), PSPH (172480), PTCH1 (601309), PTDSS1 (612792), PTEN (601728), PTPN11 (176876), PTS (612719), PURA (600473), PUS1 (608109), PYCR1 (179035), QDPR (612676), RAD21 (606462), RAF1 (164760), RAI1 (607642), RAPSN (601592), RARS2 (611524), RBM10 (300080), RECQL4 (603780), RET (164761), RFT1 (611908), RIN2 (610222), RIT1 (609591), RLIM (300379), RMRP (157660), RNASEH2A (606034), RNASEH2B (610326), RNASEH2C (610330), RNU4ATAC (601428), ROGDI (614574), ROR2 (602337), RPGRIP1L (610937), RPL10 (312173), RPS19 (603474), RPS6KA3 (300075), RRM2B (604712), RTTN (610436), SACS (604490), SAMHD1 (606754), SATB2 (608148), SBF1 (603560), SCN11A (604385), SCO1 (603644), SCO2 (604272), SDHA (600857), SDHAF1 (612848), SDHD (602690), SEMA3E (608166), SERAC1 (614725), SERPINH1 (600943), SETBP1 (611060), SETD2 (612778), SETD5 (615743), SGSH (605270), SHANK2 (603290), SHANK3 (606230), SHOC2 (602775), SIL1 (608005), SIX3 (603714), SKI (164780), SLC12A1 (600839), SLC12A6 (604878), SLC16A2 (300095), SLC17A5 (604322), SLC18A3 (600336), SLC19A2 (603941), SLC19A3 (606152), SLC1A2 (600300), SLC1A4 (600229), SLC25A19 (606521), SLC2A10 (606145), SLC33A1 (603690), SLC35A2 (314375), SLC35C1 (605881), SLC46A1 (611672), GPR172A (607882), SLC6A3 (126455), SLC6A8 (300036), SLC6A9 (601019), SLC9A6 (300231), 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), SPG11 (610844), SPG20 (607111), SPR (182125), SPRED1 (609291), SPTBN2 (604985), SRCAP (611421), SRD5A3 (611715), SRPX2 (300642), SSR4 (300090), ST3GAL5 (604402), STIM1 (605921), STRADA (608626), STT3A (601134), STT3B (608605), SUCLA2 (603921), SUCLG1 (611224), SUMF1 (607939), SUOX (606887), SURF1 (185620), SYN1 (313440), SYT14 (610949), TACO1 (612958), TAF1 (313650), TARS2 (612805), TAT (613018), TBC1D20 (611663), TBCD (604649), TBL1XR1 (608628), TBX1 (602054), TCF4 (602272), TCN2 (613441), TCTN1 (609863), TCTN2 (613846), TCTN3 (613847), TELO2 (611140), TGFBR1 (190181), TGFBR2 (190182), TH (191290), THRA (190120), TIMM8A (300356), TKT (606781), TMEM138 (614459), TMEM165 (614726), TMEM216 (613277), TMEM231 (614949), TMEM237 (614423), TMEM67 (609884), TMEM70 (612418), TMTC3 (617218), TPK1 (606370), TPP1 (607998), TRAPPC9 (611966), TREX1 (606609), TRIM32 (602290), RG9MTD2 (616013), TRMT5 (611023), TRNT1 (612907), TSC1 (605284), TSC2 (191092), TSEN2 (608753), TSEN34 (608754), TSFM (604723), TTC19 (613814), TTC8 (608132), TUBA8 (605742), TUBB (191130), TUBB2A (615101), TUBB2B (612850), TUBB3 (602661), TUBB4 (602662), TUBG1 (191135), UBE2A (312180), UBE3A (601623), UCHL1 (191342), UPF3B (300298), C6ORF125 (614461), UQCRQ (612080), 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), XPA (611153), ZNF238 (608433), ZC4H2 (300897), ZDHHC9 (300646), ZEB2 (605802), ZIC1 (600470), ZIC2 (603073), ZIC3 (300265), ZMYND11 (608668), ZNF148 (601897), ZNF335 (610827), ZNF423 (604557), ZNF592 (613624).


    Stickler Sendromu (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi;5 Gen)

    COL11A1 (120280), COL11A2 (120290), COL2A1 (120140), COL9A1 (120210), COL9A2 (120260).


    Spinal Musküler Atrofi (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi;21 Gen)

    AR (313700), ASAH1 (613468), ATP7A (300011), BICD2 (609797), DNAJB2 (604139), DYNC1H1 (600112), HSPB1 (602195), HSPB3 (604624), HSPB8 (608014), IGHMBP2 (600502), PLEKHG5 (611101), SIGMAR1 (601978), GPR172A (607882), SLC5A7 (608761), SMN1 (600354), SMN2 (601627), TBCD (604649), TRPV4 (605427), UBA1 (314370), VAPB (605704), VRK1 (602168).


    Spastik Parapleji (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi;262 Gen + mtDNA)

    ABCD1 (300371), ACOX1 (609751), ACTB (102630), ADSL (608222), AFG3L2 (604581), AIMP1 (603605), ALDH18A1 (138250), ALDH3A2 (609523), ALS2 (606352), AMACR (604489), AMPD2 (102771), AP1S2 (300629), AP4B1 (607245), AP4E1 (607244), AP4M1 (602296), AP4S1 (607243), KIAA0415 (613653), ARL6IP1 (607669), ARNT2 (606036), ARSA (607574), ARX (300382), ASNS (108370), ASPA (608034), ATL1 (606439), ATP13A2 (610513), ATP6AP2 (300556), ATRX (300032), ATXN2 (601517), ATXN7 (607640), AUH (600529), B3GALT6 (615291), B4GALNT1 (601873), BCOR (300485), BCS1L (603647), BOLA3 (613183), BSCL2 (606158), C12orf65 (613541), C19orf12 (614297), CACNA1G (604065), CASK (300172), CAV1 (601047), CCDC88C (611204), CCT5 (610150), CHMP1A (164010), CIT (605629), CLP1 (608757), CLPP (601119), COASY (609855), COX10 (602125), COX15 (603646), CPT1C (608846), CSF1R (164770), CTNNB1 (116806), CYP27A1 (606530), CYP2U1 (610670), CYP7B1 (603711), DARS (603084), DARS2 (610956), DCTN1 (601143), DDHD1 (614603), DDHD2 (615003), DHCR24 (606418), DYNC1H1 (600112), EARS2 (612799), EIF2B1 (606686), EIF2B2 (606454), EIF2B3 (606273), EIF2B4 (606687), EIF2B5 (603945), ELOVL4 (605512), ERLIN2 (611605), EXOSC3 (606489), FA2H (611026), FARS2 (611592), FBXO7 (605648), FLNA (300017), FOXG1 (164874), FOXRED1 (613622), FTL (134790), FUCA1 (612280), GAD1 (605363), GALC (606890), GAN (605379), GBA (606463), GBA2 (609471), GBE1 (607839), GCDH (608801), GFAP (137780), GFM1 (606639), GJA1 (121014), GJC2 (608803), GLB1 (611458), GM2A (613109), GNAO1 (139311), GPT2 (138210), GRM1 (604473), GSS (601002), HARS2 (600783), HPRT1 (308000), HSD17B4 (601860), HSPB3 (604624), HSPD1 (118190), HTRA1 (602194), HTT (613004), IBA57 (615316), IFIH1 (606951), KCNA1 (176260), KCNQ2 (602235), KCNT1 (608167), KDM5C (314690), KIAA0196 (610657), KIDINS220 (615759), KIF1A (601255), KIF1C (603060), KIF2A (602591), KIF5A (602821), L1CAM (308840), L2HGDH (609584), LAMB1 (150240), LARS2 (604544), LIAS (607031), LIPT1 (610284), LMNB1 (150340), LYRM7 (615831), MAN2B1 (609458), MARS2 (609728), MCOLN1 (605248), MECP2 (300005), MECR (608205), MFSD2A (614397), MLC1 (605908), MOCS1 (603707), MOCS2 (603708), MRE11A (600814), MRPS22 (605810), MTPAP (613669), NARS2 (612803), 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), NDUFB11 (300403), NDUFB3 (603839), NDUFB9 (601445), NDUFS1 (157655), NDUFS2 (602985), NDUFS3 (603846), NDUFS4 (602694), NDUFS6 (603848), NDUFS7 (601825), NDUFS8 (602141), NDUFV1 (161015), NDUFV2 (600532), NIPA1 (608145), NPC1 (607623), NPC2 (601015), NSUN2 (610916), NT5C2 (600417), NUBPL (613621), OPA3 (606580), PAFAH1B1 (601545), PANK2 (606157), PDHX (608769), PEX16 (603360), PEX7 (601757), PGAP1 (611655), PHGDH (606879), PIEZO2 (613629), PIGA (311770), PIGN (606097), PLA2G6 (603604), PLCB1 (607120), PLP1 (300401), PNPLA6 (603197), POLR3A (614258), POLR3B (614366), PRNP (176640), PSAP (176801), PSEN1 (104311), RARS (107820), RARS2 (611524), REEP1 (609139), REEP2 (609347), RFT1 (611908), RNASEH2A (606034), RNASEH2B (610326), RNASEH2C (610330), RTN2 (603183), SACS (604490), SAMHD1 (606754), SCN2A (182390), SCP2 (184755), SDHA (600857), SDHAF1 (612848), SDHD (602690), SEPSECS (613009), SLC16A2 (300095), SLC19A3 (606152), SLC1A2 (600300), SLC1A4 (600229), SLC20A2 (158378), SLC25A12 (603667), SLC25A22 (609302), SLC2A1 (138140), SLC30A10 (611146), SLC33A1 (603690), SLC39A14 (608736), SLC6A8 (300036), SMPD1 (607608), SOD1 (147450), SOX10 (602229), SPAST (604277), SPG11 (610844), SPG20 (607111), SPG21 (608181), SPG7 (602783), SPTAN1 (182810), SPTBN2 (604985), ST3GAL5 (604402), STXBP1 (602926), SUCLA2 (603921), SUMF1 (607939), TAF1 (313650), TARDBP (605078), TBC1D20 (611663), TBCD (604649), TCTN2 (613846), TELO2 (611140), TFG (602498), TIMM8A (300356), TPI1 (190450), TREM2 (605086), TREX1 (606609), TRMT5 (611023), TTC19 (613814), TTR (176300), TUBA1A (602529), TUBB3 (602661), TUBB4 (602662), TUBG1 (191135), TYROBP (604142), UBQLN2 (300264), UCHL1 (191342), VAMP1 (185880), VPS37A (609927), VPS53 (615850), WDR45 (300526), WDR62 (613583), WWOX (605131), XPA (611153), ZFYVE26 (612012), ZFYVE27 (610243), ZNF335 (610827).


    Serotonin Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 12 Genes)

    DBH (609312), DDC (107930), GCH1 (600225), HTR1A (109760), HTR2A (182135), MAOA (309850), PNPO (603287), PTS (612719), QDPR (612676), SLC6A4 (182138), SPR (182125), TPH2 (607478).


    Sitokrom C Oksidaz Eksikliği (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 44 Gen + mtDNA)

    AARS2 (612035), ACSF3 (614245), AGK (610345), AIFM1 (300169), APOPT1 (616003), C10ORF2 (606075), C12orf65 (613541), COA5 (613920), COX10 (602125), C12ORF62 (614478), FAM36A (614698), COX4I2 (607976), COX6B1 (124089), DNA2 (601810), EARS2 (612799), FARS2 (611592), FASTKD2 (612322), FBXL4 (605654), FOXRED1 (613622), GFER (600924), GFM1 (606639), C20ORF72 (615076), MPV17 (137960), MRPL3 (607118), MRPS16 (609204), MRPS22 (605810), MTFMT (611766), MTO1 (614667), PNPT1 (610316), POLG (174763), POLG2 (604983), RMND1 (614917), RRM2B (604712), SARS2 (612804), SCO1 (603644), SCO2 (604272), SLC25A4 (103220), SUCLG1 (611224), SURF1 (185620), TRMU (610230), TSFM (604723), TUFM (602389), TYMP (131222), YARS2 (610957).


    Seroid Lipofusinoz Bozuklukları (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 13 Gen)

    ATP13A2 (610513), CLN3 (607042), CLN5 (608102), CLN6 (606725), CLN8 (607837), CTSD (116840), CTSF (603539), DNAJC5 (611203), GRN (138945), KCTD7 (611725), MFSD8 (611124), PPT1 (600722), TPP1 (607998).


    Solid Tümör Paneli

    ABL1, AKT1, ALK, APC, AR, ARID1A, ASXL1, ATM, AXL, BRAF, CDH1, CDK4, CDKN2A, CTNNB1, DDR2, EGFR, ERBB2, FGFR1, FGFR2, FGFR3, FGFR4, GNA11, GNAQ, GNAS, HRAS, IDH1, IDH2, JAK2, JAK3, KDM6A, KDR, KIT, KMT2A, KMT2C, KMT2D, KRAS, MAP2K1, MET, MLH1, MTOR, NF1, NOTCH1, NRAS, NTRK3, PDGFRA, PDGFRB, PIK3CA, PIK3R1, PTCH1, PTEN, PTPN11, RB1, RET, ROS1, SMAD4, SMARCA4, SMARCB1, SMO, STK11, TP53, TSC1, TSHR, VHL