• Otoimmün Lenfoproliferatif Sendrom (Delesyon&Duplikasyon)

    CASP10, CASP8, CTLA4, FADD, FAS, FASLG, ITK, KRAS, MAGT1, NRAS, PRKCD


    Obezite (Panel)

    ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CEP290, CUL4B, DYRK1B, GNAS, IFT27, LEP, LEPR, LZTFL1, MAgeL2, MC4R, MKKS, MKS1, NR0B2, NTRK2, PCSK1, PHF6, POMC, SDCCAG8, SIM1, TRIM32, TTC8, UCP3, VPS13B, WDPCP


    Obezite (Delesyon&Duplikasyon)

    GNAS, LEP, LEPR, MC4R, POMC, SIM1, VPS13B


    Okülomotor Apraksi (Panel)

    APTX, PIK3R5, PNKP, SETX


    Optik Atrofi (Panel)

    ACO2, AFG3L2, C12ORF65, CISD2, MFN2, NR2F1, OPA1, OPA3, RTN4IP1, SLC25A46, SPG7, TIMM8A, TMEM126A, WFS1


    Optik Atrofi (Delesyon&Duplikasyon)

    WFS1, SPG7, OPA1, MFN2


    Osteogenezis Imperfecta ve Düşük Kemik Yoğunluğu Bozuklukları (Panel)

    ALPL, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FKBP10, IFITM5, P3H1, LRP5, PLOD2, PLS3, PPIB, SERPINF1, SERPINH1, SP7, TMEM38B, WNT1


    Osteopetrosis ve Yüksek Kemik Yoğunluğu Bozuklukları (Panel)

    ANKH, CA2, CLCN7, COL1A1, GJA1, HPGD, LRP5, MTAP, OSTM1, PLEKHM1, PTDSS1, SLCO2A1, SNX10, SOST, TBXAS1, TCIRG1, TGFB1, TNFRSF11A, TNFRSF11B, TNFSF11, TYROBP


    OXPHOS Defect Dystonia (NextGen Sequencing Panel and Copy Number Analysis; 43 Genes + mtDNA)

    AFG3L2 (604581), APTX (606350), ARX (300382), ATP7B (606882), BCS1L (603647), BICD2 (609797), CARS2 (612800), COX10 (602125), COX15 (603646), DPYS (613326), DYNC1H1 (600112), EARS2 (612799), ECHS1 (602292), FASTKD2 (612322), FBXL4 (605654), FOXRED1 (613622), HTT (613004), MARS2 (609728), MPV17 (137960), NDUFA10 (603835), NDUFA12 (614530), NDUFA2 (602137), NDUFA9 (603834), NDUFAF2 (609653), C8ORF38 (612392), NDUFS3 (603846), NDUFS4 (602694), NDUFS7 (601825), NDUFS8 (602141), PANK2 (606157), PNPT1 (610316), SDHA (600857), SDHAF1 (612848), SDHD (602690), SERAC1 (614725), SLC19A3 (606152), SLC30A10 (611146), SLC39A14 (608736), SUCLA2 (603921), TIMM8A (300356), TSFM (604723), TTC19 (613814), UQCRQ (612080).


    Oxidative Phosphorylation (OXPHOS) Defects (NextGen Sequencing Panel and Copy Number Analysis; 193 Genes + mtDNA)

    AARS2 (612035), ABCB7 (300135), ABHD5 (604780), ACAD9 (611103), ACADS (606885), ADCK3 (606980), AFG3L2 (604581), AGK (610345), AIFM1 (300169), AK2 (103020), APOPT1 (616003), APTX (606350), ARMS2 (611313), ARX (300382), ATP5A1 (164360), ATP5E (606153), ATP7B (606882), ATPAF2 (608918), BCS1L (603647), BOLA3 (613183), C10ORF2 (606075), C12orf65 (613541), CA5A (114761), CARS2 (612800), CCT7 (605140), CHCHD10 (615903), CISD2 (611507), CLPP (601119), COA5 (613920), COQ2 (609825), COQ4 (612898), COQ6 (614647), COQ7 (601683), COQ9 (612837), COX10 (602125), C12ORF62 (614478), COX15 (603646), FAM36A (614698), COX4I2 (607976), COX6A1 (602072), COX6B1 (124089), COX7B (300885), COX8A (123870), CYC1 (123980), CYCS (123970), DARS (603084), DARS2 (610956), DGUOK (601465), DHTKD1 (614984), DNA2 (601810), DNAJC19 (608977), DNM1L (603850), EARS2 (612799), ETHE1 (608451), FARS2 (611592), FASTKD2 (612322), FBXL4 (605654), FDPS (134629), FOXRED1 (613622), FXN (606829), GARS (600287), GFER (600924), GFM1 (606639), GFM2 (606544), GTPBP3 (608536), HARS2 (600783), HCCS (300056), HOGA1 (613597), HSPA9 (600548), HSPD1 (118190), IARS2 (612801), IBA57 (615316), ISCU (611911), KARS (601421), KIF1B (605995), LARS2 (604544), LRPPRC (607544), LYRM4 (613311), LYRM7 (615831), MARS (156560), MARS2 (609728), MFN2 (608507), C20ORF72 (615076), BRP44L (614738), MPV17 (137960), MRPL3 (607118), MRPL44 (611849), MRPS12 (603021), MRPS16 (609204), MRPS22 (605810), MTFMT (611766), MTO1 (614667), MTPAP (613669), NARS2 (612803), NDUFA1 (300078), NDUFA10 (603835), NDUFA11 (612638), NDUFA12 (614530), NDUFA13 (609435), 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), NFU1 (608100), NNT (607878), NTHL1 (602656), NUBPL (613621), OPA1 (605290), OPA3 (606580), PANK2 (606157), PDSS1 (607429), PDSS2 (610564), PNPT1 (610316), POLG (174763), POLG2 (604983), PUS1 (608109), RARS (107820), RARS2 (611524), RMND1 (614917), RMRP (157660), RPL35A (180468), RPS14 (130620), RRM2B (604712), RYR1 (180901), SARS2 (612804), SCO1 (603644), SCO2 (604272), SDHA (600857), SDHAF1 (612848), SDHAF2 (613019), SDHB (185470), SDHC (602413), SDHD (602690), SERAC1 (614725), SLC16A1 (600682), SLC19A3 (606152), SLC25A1 (190315), SLC25A12 (603667), SLC25A16 (139080), SLC25A19 (606521), SLC25A22 (609302), SLC25A3 (600370), SLC25A32 (610815), SLC25A38 (610819), SLC25A4 (103220), SLC25A42 (610823), SOD2 (147460), SPG7 (602783), SUCLG1 (611224), SURF1 (185620), TACO1 (612958), TARS2 (612805), TAZ (300394), TFAM (600438), TIMM50 (607381), TIMM8A (300356), TK2 (188250), TKT (606781), TMEM126A (612988), TMEM70 (612418), TRMU (610230), TRNT1 (612907), TSFM (604723), TTC19 (613814), TUFM (602389), TYMP (131222), UCP1 (113730), UCP2 (601693), UCP3 (602044), UNG (191525), C6ORF125 (614461), UQCRB (191330), UQCRC2 (191329), UQCRQ (612080), VARS2 (612802), WARS2 (604733), YARS2 (610957).


    Osteogenezis imperfekta (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi;13 Gen)

    BMP1 (112264), COL1A1 (120150), COL1A2 (120160), CRTAP (605497), FKBP10 (607063), IFITM5 (614757), LEPRE1 (610339), PPIB (123841), SERPINF1 (172860), SERPINH1 (600943), SP7 (606633), TMEM38B (611236), WNT1 (603400).