• Mitokondriyal Hastalıklar, Kapsamlı Panel

    AARS2, AASS, ABAT, ABCB6, ABCB7, ABCD1, ABCD3, ACACA, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ACOX1, ACSF3, ACSL4, ADCK4, AFG3L2, AGK, AGXT, AIFM1, AK2, ALAS2, ALDH18A1, ALDH2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, AMACR, AMT, APOPT1, ATIC, ATP5A1, ATP5E, ATP7B, ATPAF2, ATXN2, AUH, BAX, BCKDHA, BCKDHB, BCKDK, BCL2, BCS1L, BOLA3, BRIP1, BTD, C10orf2, C12orf65, CA5A, CASP8, CAT, CHCHD10, CISD2, CLPB, CLPP, COA5, COA6, COASY, COMT, COQ2, COQ4, COQ6, COQ8A, COQ9, COX10, COX14, COX15, COX20, COX4I2, COX6A1, COX6B1, COX7B, CPOX, CPS1, CPT1A, CPT1C, CPT2, CRBN, CYB5A, CYB5R3, CYC1, CYCS, CYP11A1, CYP11B1, CYP11B2, CYP24A1, CYP27A1, CYP27B1, D2HGDH, DARS2, DBT, DECR1, DGUOK, DHCR24, DHODH, DHTKD1, DIABLO, DLAT, DLD, DMGDH, DMPK, DNA2, DNAJC19, DNAJC3, DNM1L, EARS2, ECHS1, EHHADH, ELAC2, EPHX2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FECH, FH, FKBP10, FOXRED1, FTH1, FXN, GARS, GATM, GCDH, GCSH, GDAP1, GFER, GFM1, GFM2, GK, GLDC, GLRX5, GLUD1, GLYCTK, GPI, GPT2, GPX1, GRHPR, GSR, GTPBP3, HADH, HADHA, HADHB, HARS2, HAX1, HCCS, HIBCH, HINT1, HK1, HLCS, HMBS, HMGCL, HMGCS2, HOGA1, HSD17B10, HSD17B4, HSD3B2, HSPA9, HSPD1, HTRA2, IARS2, IBA57, IDH2, IDH3B, ISCA2, ISCU, IVD, KARS, KIF1B, KRT5, L2HGDH, LARS2, LIAS, LIPT1, LONP1, LRPPRC, LYRM4, LYRM7, MAOA, MAOB, MARS2, MCCC1, MCCC2, MCEE, MFN2, MGME1, MICU1, MIP, MLH1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MPC1, MPV17, MRPL3, MRPL44, MRPS16, MRPS22, MSRB3, MTFMT, MTO1, MTPAP, MTRR, MUT, MUTYH, NADK2, NAGS, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NNT, NTHL1, NUBPL, OAT, OGDH, OGG1, OPA1, OPA3, OTC, OXCT1, P4HB, PAM16, PANK2, PARK7, PC, PCCA, PCCB, PCK2, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PDX1, PET100, PEX11B, PHYH, PINK1, PKLR, PNPLA8, PNPO, PNPT1, POLG, POLG2, PPM1K, PPOX, PRodH, PTGS1, PTRF, PTRH2, PTS, PUS1, PYCR1, PYCR2, QDPR, RARS, RARS2, RDH11, RECQL4, RMND1, RNASEH1, RNASEL, RPIA, RPL35A, RPS14,RRM2B, SARDH, SARS2, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SECISBP2, SERAC1, SFXN4, SLC16A1, SLC19A3, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A38, SLC25A4, SLC25A46, SLC37A4, SLC9A6, SNAP29, SOD1, SOD2, SPG7, SPR, SPTLC2, STAR, STOM, SUCLA2, SUCLG1, SUGCT, SUOX, SURF1, TACO1, TARS2, TCIRG1, TIMM44, TIMM8A, TK2, TMEM126A, TMEM70, TMLHE, TPI1, TPK1, TRMU, TRNT1, TSFM, TTC19, TUBB3, TUFM, TXNRD2, TYMP, UNG, UQCC2, UQCRB, UQCRC2, UQCRQ, VARS2, WDR81, WFS1, XPNPEP3, YARS2 + Complete coverage of Mitochondrial genome


    Mitokondriyal Lökodistrofi/Lökoensefalopati ( Yeni Nesil Dizileme Paneli + Kopya Sayısı Varyasyonu Analizi; ; 44 Gen + mtDNA)

    APOPT1 (616003), COX15 (603646), DARS (603084), DARS2 (610956), EARS2 (612799), FBXL4 (605654), HSPD1 (118190), MPV17 (137960), MRPS22 (605810), MTFMT (611766), 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), NUBPL (613621), POLG (174763), PSAP (176801), SDHA (600857), SDHAF1 (612848), SDHB (185470), SLC25A12 (603667), TACO1 (612958), TARS2 (612805), TUFM (602389), TYMP (131222), VARS2 (612802).


    Mitokondriyal Nöronal Migrasyon Bozukluğu (Yeni Nesil Dizileme Paneli and Kopya Sayısı Varyasyon Analizi; 11 Gen + mtDNA)

    ARX (300382), CPT2 (600650), DNM1L (603850), FH (136850), HCCS (300056), MLYCD (606761), MRPL3 (607118), RMND1 (614917), SLC25A19 (606521), TSFM (604723), TUFM (602389).


    Mitokondriyal Genom Analizi

    MTRNR1 (561000), MTRNR2 (561010); MTTA (590000); MTTR (590005); MTTN (590010); MTTD (590015); MTTC (590020); MTTE (590025); MTTQ (590030); MTTG (590035); MTTH (590040); MTTI (590045); MTTL1 (590050); MTTL2 (590055); MTTK (590060); MTTM (590065); MTTF (590070); MTTP (590075); MTTS1 (590080); MTTS2 (590085); MTTT (590090); MTTW (590095); MTTY (590100); MTTV (590105); MTND1 (516000); MTND2 (516001); MTND3 (516002); MTND4 (516003); MTND4L (516004); MTND5 (516005); MTND6 (516006); MYCYB (516020); MTCO1 (516030); MTCO2 (516040); MTCO3 (516050); MTATP6 (516060); MTATP8 (516070).


    Mitokondriyal Genom + Delesyon Analizi

    MTRNR1 (561000), MTRNR2 (561010); MTTA (590000); MTTR (590005); MTTN (590010); MTTD (590015); MTTC (590020); MTTE (590025); MTTQ (590030); MTTG (590035); MTTH (590040); MTTI (590045); MTTL1 (590050); MTTL2 (590055); MTTK (590060); MTTM (590065); MTTF (590070); MTTP (590075); MTTS1 (590080); MTTS2 (590085); MTTT (590090); MTTW (590095); MTTY (590100); MTTV (590105); MTND1 (516000); MTND2 (516001); MTND3 (516002); MTND4 (516003); MTND4L (516004); MTND5 (516005); MTND6 (516006); MYCYB (516020); MTCO1 (516030); MTCO2 (516040); MTCO3 (516050); MTATP6 (516060); MTATP8 (516070).


    Mitokondriyal Genom + Delesyon + Deplesyon Analizi

    MTRNR1 (561000), MTRNR2 (561010); MTTA (590000); MTTR (590005); MTTN (590010); MTTD (590015); MTTC (590020); MTTE (590025); MTTQ (590030); MTTG (590035); MTTH (590040); MTTI (590045); MTTL1 (590050); MTTL2 (590055); MTTK (590060); MTTM (590065); MTTF (590070); MTTP (590075); MTTS1 (590080); MTTS2 (590085); MTTT (590090); MTTW (590095); MTTY (590100); MTTV (590105); MTND1 (516000); MTND2 (516001); MTND3 (516002); MTND4 (516003); MTND4L (516004); MTND5 (516005); MTND6 (516006); MYCYB (516020); MTCO1 (516030); MTCO2 (516040); MTCO3 (516050); MTATP6 (516060); MTATP8 (516070).


    Merkezi Hipoventilasyon Sendromu (Panel)

    RET, GDNF, EDN3, BDNF, ASCL1, PHOX2A, PHOX2B, ZEB2, GFRA1, ECE1, MECP2


    Merkezi Hipoventilasyon Sendromu

    ASCL1, BDNF, GDNF, ZEB2, EDN3, MECP2, PHOX2B, RET, GFRA1


    Marfan, Loeys-Dietz Sendromu ve İlgili Bozukluklar (Panel)

    COL3A1, COL5A1, COL5A2, EFEMP2, FBN1, FBN2, NOTCH1, SKI, SLC2A10, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2


    Meckel – Gruber Sendromu (Panel)

    MKS1, TMEM216, TMEM67, CEP290, RPGRIP1L, CC2D2A, NPHP3, TCTN2, B9D1, B9D2, TMEM231


    Melanom (Panel)

    BAP1, CDK4, CDKN2A, MITF, TERT


    Melanom (Delesyon&Duplikasyon)

    BAP1, CDKN2A, CDK4, MITF, TERT


    Mental Retardasyon, X'e Bağlı (Panel)

    ABCD1, ACSL4, AFF2, AP1S2, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCOR, BRWD3, CASK, CDKL5, CUL4B, DCX, DKC1, DLG3, ELK1, FANCB, FGD1, FLNA, FMR1, FTSJ1, GDI1, GK, GPC3, GRIA3, HCCS, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IL1RAPL1, KDM5C, KIAA2022, KLF8, L1CAM, LAMP2, MAGT1, MAOA, MBTPS2, MECP2, MED12, MID1, MTM1, NDP, NDUFA1, NHS, NLGN3, NLGN4X, NSDHL, NXF5, OCRL, OFD1, OPHN1, OTC, PAK3, PCDH19, PDHA1, PGK1, PHF6, PHF8, PLP1, PORCN, PQBP1, PRPS1, RAB39B, RPL10, RPS6KA3, SHROOM4, SLC16A2, SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SYN1, SYP, TIMM8A, TSPAN7, UBE2A, UPF3B, ZCCHC12, ZDHHC15, ZDHHC9, ZNF711, ZNF81


    Mental Retardasyon, X'e Bağlı (Delesyon&Duplikasyon)

    IDS, IL1RAPL1, L1CAM, MECP2, MID1, MTM1, NDP, NLGN4X, OPHN1, OTC, PAK3, PCDH19, PLP1, PQBP1, RPS6KA3, SLC6A8, TSPAN7


    Metabolik Miyopatiler (Panel)

    ABHD5, ACADVL, AGL, CPT2, ENO3, ETFA, ETFB, ETFDH, GAA, GBE1, GYG1, GYS1, LDHA, LPIN1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PNPLA2, PRKAG2, PYGM, SLC22A5, SLC25A20, TAZ


    Metafizyel Displazi (Panel)

    ANKH, CDKN1C, FLNA, MMP9, MMP13, NKX3-2, RMRP, RUNX2


    Metil Malonik Asidemi (Panel) (İleri Düzey)

    ABCD4, ACSF3, CD320, LMBRD1, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, SUCLA2, SUCLG1


    Metil Malonik Asidemi (Panel) (Temel)

    MCEE, MMAA, MMAB, MMADHC, MUT


    Mikro Sendrom (Panel)

    ALDH18A1, CREBBP, CUL7, RAB18, RAB3GAP1, RAB3GAP2, TBC1D20


    Mikrosefali (Panel)

    AKT3, AP4M1, ARFGEF2, ASPM, ASXL3, ATR, ATRX, CASC5, CASK, CDK5RAP2, CDK6, CENPE, CENPF, CENPJ, CEP135, CEP152, CEP63, CHMP1A, CRIPT, DYRK1A, EFTUD2, IER3IP1, KATNB1, KIF11, MCPH1, MED17, MFSD2A, MSMO1, NDE1, NHEJ1, NIN, ORC1, PCNT, PHC1, PLK4, PNKP, PYCR2, QARS, RBBP8, SASS6, SLC25A19, STAMBP, STIL, TRMT10A, TUBB2B, TUBGCP4, TUBGCP6, WDR62, ZEB2, ZNF335


    Mikrosefali (Delesyon&Duplikasyon)

    STIL, MCPH1, CASK, CDK5RAP2, ASPM, CENPJ, ATRX, ATR, ZEB2


    Microphthalmia / Anofhtmia / Coloboma Spectrum (Panel)

    ABCB6, ALDH1A3, BCOR, BMP4, CHD7, ERCC1, ERCC2, ERCC5, ERCC6, FOXE3, FOXL2, FRAS1, FREM1, FREM2, GDF3, GDF6, GJA1, GRIP1, HCCS, HMGB3, HMX1, MAB21L2, MFRP, NAA10, NDP, OCRL, OTX2, PAX2, PAX6, PRSS56, RAB18, RAB3GAP1, RAB3GAP2, RARB, RAX, RBP4, SALL2, SHH, SIX3, SIX6, SMOC1, SOX2, STRA6, TBC1D20, TENM3, TFAP2A, VAX1, VSX2


    Microphthalmia / Anofhtmia / Coloboma Spectrum (Delesyon&Duplikasyon)

    SHH, SIX3, NDP, PAX6, FOXL2, CHD7, BMP4, SOX2


    MODY (Panel)

    ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEURod1, NKX2-2, PAX4, PDX1, RFX6, ZFP57


    MODY (Delesyon&Duplikasyon)

    ABCC8, CEL, GCK, KCNJ11, HNF4A, PDX1, HNF1A, INS, PAX4, NEUROD1, HNF1B, ZFP57, KLF11


    Mukopolisakkaridoz (Panel)

    ARSB, GALNS, GLB1, GNPTAB, GNPTG, GNS, GUSB, HGSNAT, IDS, IDUA, NAGLU, SGSH


    Musküler Distrofi (Panel)

    ANO5, CAPN3, CAV3, CLCN1, COL6A1, COL6A2, COL6A3, DAG1, DES, DMD, DNAJB6, DYSF, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GMPPB, GNE, HNRNPDL, ISPD, LAMA2, LIMS2, LMNA, MYOT, PLEC, POMGNT1, POMGNT2, POMK, POMT1, POMT2, SEPN1, SGCA, SGCB, SGCD, SGCE, SGCG, SMCHD1, SYNE1, SYNE2, TCAP, TNPO3, TRAPPC11, TRIM32, TTN, VCP


    Musküler Distrofi (Delesyon&Duplikasyon)

    GAA, SGCE, DMD, CLCN1, SGCA, SGCD, POMT1, SGCG, POMGNT1, LAMA2, CAV3, FKRP, LMNA, SGCB, DYSF, POMT2, CAPN3, MYOT, ANO5, FKTN


    Müsküler Distrofi-Distrolikanopati Tip A (Panel)

    B3GALNT2, B4GAT1, DAG1, FKRP, FKTN, GMPPB, ISPD, LARGE, POMGNT1, POMGNT2, POMK, POMT1, POMT2, TMEM5


    Miyoklonik Distoni (Panel)

    SGCE, DRD2, TOR1A


    Miyoklonik Epilepsi (Panel)

    ASAH1, CACNB4, CERS1, CSTB, DRD2, EFHC1, EPM2A, GABRA1, GABRD, GLDC, GOSR2, NEU1, NHLRC1, NOL3, POLG, PRICKLE1, PRICKLE2, SCARB2, SGCE


    Miyoklonik Epilepsi (Delesyon&Duplikasyon)

    POLG, GLDC, NHLRC1, SGCE, EPM2A


    Miyofibriler Miyopati (Panel)

    BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, LDB3, MYOT


    Miyopati-Rabdomiyoliz Sendromu (Panel)

    ACAD9, ACADM, ACADVL, AGL, AMPD1, C10orf2, CPT2, ETFA, ETFB, GAA, GYS1, HADHA, HADHB, LPIN1, OPA1, OPA3, PFKM, PGAM2, PGM1, PHKA1, POLG, POLG2, PYGM, RRM2B, SUCLA2, TK2, TYMP


    Miyopati-Rabdomiyoliz Sendromu (Delesyon&Duplikasyon)

    SUCLA2, POLG, GAA, RRM2B, TWNK, ACADVL, POLG2, OPA1, TK2


    Miyoklonik Epilepsi (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 103 Gen)

    AARS (601065), ADSL (608222), AFG3L2 (604581), ALDH5A1 (610045), ALDH7A1 (107323), AMACR (604489), AMPD2 (102771), AMT (238310), AP3D1 (607246), ARX (300382), ASAH1 (613468), ASPA (608034), ATM (607585), ATP1A3 (182350), BOLA3 (613183), BSCL2 (606158), CACNA2D2 (607082), CACNB4 (601949), CARS2 (612800), CDKL5 (300203), CERS1 (606919), CHD2 (602119), CLCN2 (600570), CLN3 (607042), CLN5 (608102), CLN6 (606725), CLN8 (607837), COL6A2 (120240), CSTB (601145), CTSD (116840), CTSF (603539), DDC (107930), DGUOK (601465), DNAJC5 (611203), DPYS (613326), DYNC1H1 (600112), EFHC1 (608815), ELOVL4 (605512), EPM2A (607566), FARS2 (611592), FGF12 (601513), FOLR1 (136430), C9ORF4 (604574), GABRA1 (137160), GABRD (137163), GCSH (238330), GLB1 (611458), GLDC (238300), GLRA1 (138491), GOSR2 (604027), GPR98 (602851), GRIA3 (305915), GRN (138945), GUF1 (617064), IER3IP1 (609382), KCNC1 (176258), KCTD7 (611725), LIAS (607031), MBOAT7 (606048), MECP2 (300005), MFSD8 (611124), NAGA (104170), NDUFA1 (300078), NEU1 (608272), NHLRC1 (608072), NOL3 (605235), PC (608786), PCDH19 (300460), PGAP3 (611801), PIGA (311770), PNPO (603287), PPT1 (600722), PRICKLE1 (608500), PRICKLE2 (608501), PRMT7 (610087), PROSC (604436), PSAP (176801), PSEN1 (104311), PURA (600473), RFT1 (611908), RMND1 (614917), RNASEH2A (606034), RNASEH2B (610326), RNASEH2C (610330), SAMHD1 (606754), SCARB2 (602257), SCN1A (182389), SCN3A (182391), SEPSECS (613009), SERPINI1 (602445), SETD2 (612778), SGCE (604149), SLC1A2 (600300), SLC25A22 (609302), SLC2A1 (138140), SLC6A1 (137165), ST3GAL5 (604402), STX1B (601485), STXBP1 (602926), TBC1D24 (613577), TPP1 (607998), TREM2 (605086), TYROBP (604142).


    Mucopolysaccharidosis and MucoLipid Disorders (NextGen Sequencing Panel and Copy Number Analysis; 13 Genes)

    ARSB (611542), GALNS (612222), GLB1 (611458), GNPTAB (607840), GNS (607664), GUSB (611499), HGSNAT (610453), HYAL1 (607071), IDS (300823), IDUA (252800), MCOLN1 (605248), NAGLU (609701), SGSH (605270).


    Mikrosefali (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 297 Gen)

    AAAS (605378), AARS (601065), ACADSB (600301), ACE (106180), ACO2 (100850), ACSL4 (300157), ACTB (102630), ADAR (146920), ADD3 (601568), AGA (613228), AIMP1 (603605), ALDH18A1 (138250), ALG1 (605907), ALG3 (608750), ALG9 (606941), AMPD2 (102771), AP3B1 (603401), AP3B2 (602166), AP3D1 (607246), AP4B1 (607245), AP4E1 (607244), AP4M1 (602296), AP4S1 (607243), ARCN1 (600820), ARFGEF2 (605371), ARSE (300180), ARX (300382), ASNS (108370), ASPM (605481), ATP5A1 (164360), ATP6V0A2 (611716), ATP7A (300011), ATPAF2 (608918), ATRX (300032), AUTS2 (607270), BCL11A (606557), BCOR (300485), BRPF1 (602410), CARS2 (612800), CASC5 (609173), CASK (300172), CCDC88A (609736), CDC45 (603465), CDC6 (602627), CDK5RAP2 (608201), CDKL5 (300203), CDT1 (605525), CENPJ (609279), CEP135 (611423), CEP152 (613529), CEP290 (610142), CHD7 (608892), CHKB (612395), CHMP1A (164010), CIT (605629), CLP1 (608757), CLPP (601119), COG6 (606977), COQ9 (612837), COX15 (603646), COX7B (300885), CPT2 (600650), CREBBP (600140), CTNNB1 (116806), CTSD (116840), DCPS (610534), DGUOK (601465), DHCR24 (606418), DHCR7 (602858), DHFR (126060), DHTKD1 (614984), DKC1 (300126), DLAT (608770), DLD (238331), DNA2 (601810), DNM1L (603850), DOLK (610746), DPAGT1 (191350), DPM1 (603503), DPM2 (603564), DYM (607461), DYNC1H1 (600112), DYRK1A (600855), EDC3 (609842), EHMT1 (607001), ELOVL4 (605512), ERCC1 (126380), ERCC2 (126340), ERCC4 (133520), ERCC5 (133530), ERCC6 (609413), ERCC8 (609412), EXOSC3 (606489), FAM20C (611061), FANCA (607139), FARS2 (611592), FBLN5 (604580), FIG4 (609390), FKRP (606596), FOXG1 (164874), GAD1 (605363), GBA (606463), GFM1 (606639), GJA1 (121014), GLI2 (165230), GMPPB (615320), GNPAT (602744), GPT2 (138210), HCCS (300056), HCFC1 (300019), HMGB3 (300193), HNRNPH2 (300610), HSPD1 (118190), IARS (600709), IBA57 (615316), IER3IP1 (609382), IFIH1 (606951), IFT74 (608040), IGF1R (147370), IQSEC2 (300522), ITPA (147520), KCNJ2 (600681), KCNT1 (608167), KDM5C (314690), KIAA2022 (300524), KIF1A (601255), KIF2A (602591), MLL2 (602113), L1CAM (308840), LARP7 (612026), LIAS (607031), LINS (610350), MBD5 (611472), MBOAT7 (606048), MBTPS2 (300294), MCOLN1 (605248), MCPH1 (607117), MECP2 (300005), MED25 (610197), MFSD2A (614397), MGAT2 (602616), MICU1 (605084), MKS1 (609883), MOCS1 (603707), MOCS2 (603708), BRP44L (614738), C7ORF11 (609188), MRPS22 (605810), MTFMT (611766), MTHFR (607093), MVK (251170), MYH3 (160720), NAA10 (300013), NANS (605202), NIPBL (608667), NKAIN2 (609758), WHSC1 (602952), NSDHL (300275), NSMCE2 (617246), NSUN2 (610916), OCLN (602876), OFD1 (300170), ORC1 (601902), ORC4 (603056), ORC6 (607213), PAFAH1B1 (601545), PAH (612349), PAK3 (300142), PALB2 (610355), PARN (604212), PDHA1 (300502), PDHX (608769), PEX5 (600414), PEX7 (601757), PGAP2 (615187), PGAP3 (611801), PGBD3 (609413), PHF6 (300414), PHGDH (606879), PIEZO2 (613629), PIGA (311770), PIGO (614730), PIGY (610662), PLEKHG2 (611893), PLP1 (300401), PMM2 (601785), PNKP (605610), PNPO (603287), POMGNT1 (606822), SGK196 (615247), POMT1 (607423), POMT2 (607439), PORCN (300651), PPT1 (600722), PQBP1 (300463), PRMT7 (610087), PSPH (172480), PTDSS1 (612792), PTS (612719), PUS1 (608109), PUS3 (616283), PYCR1 (179035), QDPR (612676), RAD21 (606462), RARS (107820), RARS2 (611524), RELN (600514), RFT1 (611908), RLIM (300379), RNASEH2A (606034), RNASEH2B (610326), RNASEH2C (610330), RNU4ATAC (601428), RPL10 (312173), RPS19 (603474), RPS6KA3 (300075), RTTN (610436), SAMHD1 (606754), SASS6 (609321), SATB2 (608148), SBF1 (603560), SCN1A (182389), SCN8A (600702), SCN9A (603415), SEMA3E (608166), SEPSECS (613009), SERAC1 (614725), SHH (600725), SIL1 (608005), SIX3 (603714), SKI (164780), SLC13A5 (608305), SLC16A2 (300095), SLC1A2 (600300), SLC1A4 (600229), SLC25A1 (190315), SLC25A19 (606521), SLC25A22 (609302), SLC2A1 (138140), SLC35A2 (314375), SLC35C1 (605881), SLC39A14 (608736), SLC6A8 (300036), SLC6A9 (601019), SLC9A6 (300231), SLX4 (613278), SMAD4 (600993), SMARCA2 (600014), SMARCA4 (603254), SMARCB1 (601607), SMARCE1 (603111), SMC1A (300040), SMC3 (606062), SNAP29 (604202), SNRPB (182282), SPR (182125), SPTAN1 (182810), SSR4 (300090), ST3GAL5 (604402), STIL (181590), STT3B (608605), SYNGAP1 (603384), TAF1 (313650), TBC1D20 (611663), TBC1D24 (613577), TBL1XR1 (608628), TBX1 (602054), TCF4 (602272), TCTN2 (613846), TELO2 (611140), TMEM165 (614726), TMTC3 (617218), TRAPPC9 (611966), TREX1 (606609), RG9MTD2 (616013), TSEN2 (608753), TSEN34 (608754), TSEN54 (608755), TUBB2B (612850), TUBB3 (602661), TUBB4 (602662), TUBG1 (191135), UBE3A (601623), VARS2 (612802), C14orf133 (613401), VPS33B (608552), VPS53 (615850), WDR62 (613583), WWOX (605131), XPA (611153), ZNF238 (608433), ZC4H2 (300897), ZEB2 (605802), ZIC1 (600470), ZNF148 (601897), ZNF335 (610827), ZNF592 (613624).


    Methylmalonic Acid Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 13 Genes)

    ACSF3 (614245), ALDH6A1 (603178), CD320 (606475), LMBRD1 (612625), MCEE (608419), MMAA (607481), MMAB (607568), MMACHC (609831), MMADHC (611935), MUT (609058), SUCLA2 (603921), SUCLG1 (611224), TCN2 (613441).


    Meckel Sendromu (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 11 Gen)

    B9D1 (614144), B9D2 (611951), CC2D2A (612013), CEP290 (610142), MKS1 (609883), NPHP3 (608002), RPGRIP1L (610937), TCTN2 (613846), TMEM216 (613277), TMEM231 (614949), TMEM67 (609884).


    Marfan ve Marfan Benzeri Sendromlar (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 17 Gen)

    ADAMTSL4 (610113), CBS (613381), COL2A1 (120140), COL9A1 (120210), FBN1 (134797), FBN2 (612570), LAMB1 (150240), MED12 (300188), NPR2 (NA), PLOD1 (153454), SKI (164780), SMAD3 (603109), TGFB1 (190180), TGFB2 (190220), TGFBR1 (190181), TGFBR2 (190182), ZDHHC9 (300646).


    Macrocephaly and Overiangrowth Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 125 Genes)

    ABCC9 (601439), ADK (102750), AKT2 (164731), AKT3 (611223), APC2 (612034), ARSB (611542), ASPA (608034), ASXL2 (612991), B4GALT1 (137060), B4GALT7 (604327), BRAF (164757), BRWD3 (300553), CDKN1C (600856), CHD4 (603277), CHD8 (610528), COL2A1 (120140), CUL4B (300304), D2HGDH (609186), DHCR24 (606418), DNMT3A (602769), EFEMP2 (604633), EIF2B1 (606686), EIF2B2 (606454), EIF2B3 (606273), EIF2B4 (606687), EIF2B5 (603945), ETFA (608053), ETFB (130410), ETFDH (231675), EXT2 (608210), EZH2 (601573), FBLN5 (604580), FH (136850), FOXRED1 (613622), GCDH (608801), GFAP (137780), GJA1 (121014), GLI3 (165240), GNAQ (600998), GPC3 (300037), GPSM2 (609245), GRIA3 (305915), GUSB (611499), HECW2 (617245), HEPACAM (611642), HEXB (606873), HRAS (190020), HSD17B4 (601860), HUWE1 (300697), IDS (300823), IDUA (252800), IGBP1 (300139), INPP5E (613037), ISPD (614631), KDM5C (314690), KIF7 (611254), KPTN (615620), KRAS (190070), L1CAM (308840), LAMB1 (150240), MAN2B1 (609458), MECP2 (300005), MED12 (300188), MGAT2 (602616), MLC1 (605908), MOCS1 (603707), MOCS2 (603708), MPDZ (603785), MTM1 (300415), MYH8 (160741), 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), NDUFV1 (161015), NDUFV2 (600532), NF1 (613113), NFIA (600727), NFIX (164005), NPR2 (108961), NRAS (164790), NSD1 (606681), NUBPL (613621), OFD1 (300170), OPHN1 (300127), PDGFRB (173410), PDSS1 (607429), PEX1 (602136), PHF6 (300414), PIGA (311770), PIK3CA (171834), PIK3R2 (603157), PTCH1 (601309), PTEN (601728), RAB39B (300774), RIN2 (610222), RIT1 (609591), RNF135 (611358), ROR2 (602337), SERPINH1 (600943), SETD2 (612778), SHANK3 (606230), SHOC2 (602775), SLC25A1 (190315), SOS1 (182530), SPG20 (607111), SPRED1 (609291), STRADA (608626), SYN1 (313440), TBCD (604649), THRA (190120), TMEM216 (613277), TSC1 (605284), TSC2 (191092), UPF3B (300298).


    Multipl Miyelom (MM) Paneli

    IGH/FGFR3 [t(4;14)(p16;q32)], CCND1/IGH [t(11;14)(q13;q32)], D13S319 (13q14.3), P53 (17p13.1), Kromozom 7, Kromozom 8


    Miyelodisplastik Sendrom (MDS) Paneli

    EGR1 (5q31), 7q31 delesyonu, P53 (17p13.1), 20q13.2, 20q12, Kromozom 7, Kromozom 8


    Multiple Endocrine Neoplasias /Paraganglioma/Pheochromocytoma Panel

    CDKN1B, MAX, MEN1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL


    Meme Kanseri Paneli

    ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, NBN, PALB2, PTEN, RAD51C, STK11, TP53


    Meme Over Kanser Paneli, Plus

    ATM, BARD1, BRIP1, CHEK2, MEN1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PMS1, PMS2, RAD50, RAD51C, RAD51D, XRCC2


    Meme Over Kanser Paneli

    CDH1, PTEN, STK11, TP53


    Miyeloid Tümör Paneli

    ASXL1, CEBPA, DNMT3A, ETV6, EZH2, IDH1, IDH2, KIT, KRAS, NPM1, NRAS, PTPN11, RAD21, RUNX1, SF3B1, SMC1A, SMC3, STAG2, TET2, TP53, U2AF1, WT1