• CMT Neuropathy (Panel)

    AARS, AIFM1, ARHGEF10, BSCL2, COX6A1, DHTKD1, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, FAM134B, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HINT1, HK1, HOXD10, HSPB1, HSPB8, IGHMBP2, IKBKAP, INF2, KARS, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, PDK3, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, REEP1, SBF1, SBF2, SH3TC2, TRIM2, TRPV4, VCP, YARS


    CMT Neuropathy (Delesyon&Duplikasyon)

    SBF2, RAB7A, REEP1, MTMR2, SH3TC2, GJB1, GDAP1, KIF1B, HSPB1, IGHMBP2, EGR2, PRX, PMP22, NEFL, LMNA, HSPB8, GARS, MFN2, MPZ


    Coffin- Siris Sendromu (Panel)

    ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1


    Cornelia de Lange Sendromu (Panel)

    AFF4, HDAC8, KMT2A, NIPBL, RAD21, SMC1A, SMC3, TAF6


    Çocuklukta Epilepsi (Yokluk) (Panel)

    CACNA1H, GABRA1, GABRB3, GABRG2, JRK, SLC2A1


    Çoklu Epifiz Displazisi (Panel)

    COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2


    Congenital Heart Defects (NextGen Sequencing Panel and Copy Number Analysis; 101 Genes)

    ACTC1 (102540), ACVR2B (602730), AKT3 (611223), ARL6 (608845), ASXL2 (612991), B9D1 (614144), B9D2 (611951), BBS1 (209901), BBS10 (610148), BBS12 (610683), BBS2 (606151), BBS4 (600374), BBS5 (603650), BBS7 (607590), BBS9 (607968), BRAF (164757), CBL (165360), CC2D2A (612013), CCDC11 (614759), CCDC28B (610162), CDC45 (603465), CEP290 (610142), CFC1 (605194), CHD7 (608892), CITED2 (602937), CPS1 (608307), CREBBP (600140), CRELD1 (607170), DCPS (610534), DNAAF1 (613190), DNAH5 (603335), DTNA (601239), ELN (130160), EXT2 (608210), FANCA (607139), FLNA (300017), FOXF1 (601089), GATA4 (600576), GATA6 (601656), GDF1 (602880), GJA1 (121014), GPC6 (604404), JAG1 (601920), KIF7 (611254), KRAS (190070), MAP3K7 (602614), MED13L (608771), MKKS (604896), MKS1 (609883), C7ORF11 (609188), MYH6 (160710), NKAIN2 (609758), NKX2-5 (600584), NKX2-6 (611770), NODAL (601265), NOTCH1 (190198), NPHP3 (608002), NR2F2 (107773), NRAS (164790), NSMCE2 (617246), OFD1 (300170), PALB2 (610355), PIK3CA (171834), PIK3R2 (603157), PITX2 (601542), PTPN11 (176876), RAF1 (164760), RAI1 (607642), RBM10 (300080), RECQL4 (603780), RIT1 (609591), ROR2 (602337), RPGRIP1L (610937), RPS19 (603474), SEMA3E (608166), SHOC2 (602775), SMAD4 (600993), SMAD6 (602931), SNRPB (182282), SON (182465), SOS1 (182530), STRADA (608626), TAB2 (605101), TBX1 (602054), TBX20 (606061), TBX5 (601620), TCTN2 (613846), TELO2 (611140), TLL1 (606742), TMEM216 (613277), TMEM231 (614949), TMEM67 (609884), TOR1AIP1 (614512), TRIM32 (602290), TTC8 (608132), VPS33A (610034), WDPCP (613580), YY1AP1 (607860), ZFPM2 (603693), ZIC3 (300265), ZNF148 (601897).


    Congenital Central Hypoventilation Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 7 Genes)

    ASCL1 (100790), BDNF (113505), EDN3 (131242), GDNF (600837), HOXA1 (142955), PHOX2B (603851), RET (164761).


    Comprehensive Neuronal Migration Disorders (NextGen Sequencing Panel and Copy Number Analysis; 182 Genes + mtDNA)

    ABAT (137150), ABCD3 (170995), ADD3 (601568), AHDC1 (615790), AKT3 (611223), AMMECR1 (300195), AP3B1 (603401), ARCN1 (600820), ARFGEF2 (605371), ARX (300382), ASNS (108370), ASPM (605481), ATP6V0A2 (611716), B3GALNT2 (610194), B3GNT1 (605517), BBIP1 (613605), BRPF1 (602410), CASK (300172), CCDC88A (609736), CDC45 (603465), CDON (608707), CEP152 (613529), CHD4 (603277), CLCN4 (302910), CNTNAP2 (604569), CPT2 (600650), CREBBP (600140), DCX (300121), DHCR24 (606418), DNM1L (603850), DOK7 (610285), DYNC1H1 (600112), ERCC1 (126380), ERCC2 (126340), ERCC4 (133520), ERCC6 (609413), C6ORF70 (615532), EVI2A (158380), FAM111A (615292), FH (136850), FKRP (606596), FKTN (607440), FLNA (300017), FLVCR2 (610865), FMR1 (309550), FOXG1 (164874), GJC2 (608803), GLI2 (165230), GLI3 (165240), GLUL (138290), GMPPB (615320), GPR56 (604110), GPSM2 (609245), HCCS (300056), HDAC3 (605166), HECW2 (617245), HNRNPH2 (300610), HUWE1 (300697), IARS (600709), IER3IP1 (609382), IGF1R (147370), ISPD (614631), ITPA (147520), KIF2A (602591), LAMB1 (150240), LAMC3 (604349), LARGE (603590), LARP7 (612026), MED12 (300188), MEF2C (600662), MFSD2A (614397), MLYCD (606761), MPDZ (603785), C7ORF11 (609188), MRPL3 (607118), NANS (605202), NCOR2 (600848), NFIA (600727), NFIX (164005), NKAIN2 (609758), NPAS2 (603347), NPAS3 (609430), NPAS4 (608554), WHSC1 (602952), NSMCE2 (617246), OCLN (602876), OFD1 (300170), PACRG (608427), PAFAH1B1 (601545), PALB2 (610355), PARN (604212), PEPD (613230), PEX1 (602136), PEX10 (602859), PEX13 (601789), PEX14 (601791), PEX16 (603360), PEX19 (600279), PEX2 (170993), PEX26 (608666), PEX3 (603164), PEX5 (600414), PGBD3 (609413), PI4KA (600286), PIEZO2 (613629), PIGY (610662), PIK3CA (171834), PIK3R2 (603157), PLEKHG2 (611893), PNKP (605610), POMGNT1 (606822), C3orf39 (614828), SGK196 (615247), POMT1 (607423), POMT2 (607439), PTCH1 (601309), PUS3 (616283), PYROXD1 (617220), RAPSN (601592), RCC2 (609587), RELN (600514), RMND1 (614917), RNU4ATAC (601428), ROR2 (602337), RORA (600825), RPS19 (603474), RTTN (610436), SATB2 (608148), SCAF4 (616023), SCAF8 (616024), SCN1A (182389), SCN3A (182391), SHH (600725), SIX3 (603714), SLC1A2 (600300), SLC1A4 (600229), SLC25A19 (606521), SLC6A9 (601019), SLX4 (613278), SMAD4 (600993), SMC1A (300040), SNAP29 (604202), SNORD118 (616663), SNRPB (182282), SON (182465), SOX5 (604975), SRD5A3 (611715), SRPX2 (300642), STIL (181590), STRADA (608626), TBC1D20 (611663), TBC1D24 (613577), TBCD (604649), TBL1X (300196), TCTN3 (613847), TELO2 (611140), TGIF1 (602630), TMEM5 (605862), TMTC3 (617218), TNIK (610005), TRMT5 (611023), TSC1 (605284), TSFM (604723), TUBA1A (602529), TUBA8 (605742), TUBB (191130), TUBB2A (615101), TUBB2B (612850), TUBB3 (602661), TUBG1 (191135), TUFM (602389), USP27X (300975), C14orf133 (613401), VPS33A (610034), VPS33B (608552), WDR62 (613583), WNT1 (164820), ZC3H14 (613279), ZC4H2 (300897), ZIC1 (600470), ZIC2 (603073), ZNF148 (601897).


    Comprehensive mtDNA Depletion Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 17 Genes)

    AFG3L2 (604581), AGK (610345), C10ORF2 (606075), CHCHD10 (615903), DGUOK (601465), FBXL4 (605654), C20ORF72 (615076), MPV17 (137960), OPA1 (605290), POLG (174763), POLG2 (604983), RRM2B (604712), SLC25A4 (103220), SUCLA2 (603921), SUCLG1 (611224), TK2 (188250), TYMP (131222).


    Comprehensive Metabolic Disease Hepatomegaly (NextGen Sequencing Panel and Copy Number Analysis; 79 Genes + mtDNA)

    ACOX1 (609751), ADAR (601059), AGA (613228), AGPAT2 (603100), ALG13 (300776), APOA1 (107680), ARSB (611542), ASAH1 (613468), BMP2 (112261), BSCL2 (606158), CDKN1C (600856), COG4 (606976), CTSA (613111), CYP7B1 (603711), DHFR (126060), EARS2 (612799), ERCC6 (133540), FBP1 (611570), FGA (134820), FTH1 (134770), FUCA1 (612280), G6PC (613742), G6PC3 (611045), GAA (606800), GALNS (612222), GBA (606463), GBE1 (607839), GCDH (608801), GLB1 (611458), GNE (603824), GNMT (606628), GNPTAB (607840), GNS (607664), GPD1 (138420), GUSB (611499), HAMP (606464), HEXB (606873), HFE (613609), HFE2 (608374), HGSNAT (610453), HMGCL (613898), IDS (300823), IDUA (252800), KCNQ1OT1 (604115), LMNA (150330), LPIN2 (605519), LYST (606897), LYZ (153450), MAN2B1 (609458), MEFV (608107), MMAA (607481), MMAB (607568), MOGS (601336), MVK (251170), NAGLU (609701), NEU1 (608272), NSD1 (606681), PHKA2 (300798), PHKB (172490), PHKG2 (172471), PSAP (176801), PTRF (603198), PYGL (613741), RMND1 (614917), RNASEH2A (606034), RNASEH2B (610326), RNASEH2C (610330), SAMHD1 (606754), SGSH (605270), SLC17A5 (604322), SLC2A2 (138160), SLC37A4 (602671), SLC40A1 (604653), SMPD1 (607608), SUMF1 (607939), TALDO1 (602063), TFR2 (604720), TMEM165 (614726), TREX1 (606609).


    Comprehensive Intellectual Disability/Autism (NextGen Sequencing Panel and Copy Number Analysis; 902 Genes + Fragile X Repeat Expansion & Methylation)

    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).


    Comprehensive Cellular Energetics Defects (NextGen Sequencing Panel and Copy Number Analysis; 343 Genes + mtDNA)

    AARS2 (612035), ABCB7 (300135), ABCD1 (300371), ABHD5 (604780), ACACA (200350), ACAD8 (604773), ACAD9 (611103), ACADM (607008), ACADS (606885), ACADSB (600301), ACADVL (609575), ACAT1 (607809), ACAT2 (100678), ACO2 (100850), ACOX1 (609751), ACOX2 (601641), ACP6 (611471), ACSF3 (614245), ACSL4 (300157), ADCK3 (606980), AFG3L2 (604581), AGK (610345), AGL (610860), AIFM1 (300169), AK2 (103020), ALAD (125270), ALAS2 (301300), ALDH3A2 (609523), ALDOA (103850), ALDOB (612724), ANO10 (613726), APOPT1 (616003), APTX (606350), ARMS2 (611313), ARX (300382), ATP5A1 (164360), ATP5E (606153), ATP7B (606882), ATPAF2 (608918), AUH (600529), BAAT (602938), BAX (600040), BCKDHA (608348), BCKDHB (248611), BCS1L (603647), BOLA3 (613183), BPGM (613896), BTD (609019), C10ORF2 (606075), C12orf65 (613541), CA5A (114761), CACNA1S (114208), CALM1 (114180), CALM2 (114182), CARS2 (612800), CCT7 (605140), CHCHD10 (615903), CHKB (612395), 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), CPOX (612732), CPT1A (600528), CPT1C (608846), CPT2 (600650), CYC1 (123980), CYCS (123970), DARS (603084), DARS2 (610956), DBT (248610), DGUOK (601465), DHTKD1 (614984), DLAT (608770), DLD (238331), DNA2 (601810), DNAJC19 (608977), DNM1L (603850), EARS2 (612799), ECHS1 (602292), EHHADH (607037), ELOVL4 (605512), ELOVL5 (611805), ENO3 (131370), ETFA (608053), ETFB (130410), ETFDH (231675), ETHE1 (608451), FARS2 (611592), FASTKD2 (612322), FBP1 (611570), FBXL4 (605654), FDPS (134629), FECH (612386), FH (136850), FOLR1 (136430), FOXRED1 (613622), FXN (606829), G6PC (613742), G6PC3 (611045), G6PD (305900), GAA (606800), GAMT (601240), GARS (600287), GATM (602360), GBE1 (607839), GCDH (608801), GCK (138079), GFER (600924), GFM1 (606639), GFM2 (606544), GPD1 (138420), GPD2 (138430), GPHN (603930), GPI (172400), GPT2 (138210), GSS (601002), GTPBP3 (608536), GYG1 (603942), GYS1 (138570), GYS2 (138571), HADH (601609), HADHA (600890), HADHB (143450), HARS2 (600783), HCCS (300056), HK1 (142600), HLCS (609018), HMBS (609806), HMGCL (613898), HMGCS2 (600234), HOGA1 (613597), HSPA9 (600548), HSPD1 (118190), HTT (613004), IARS2 (612801), IBA57 (615316), IDH1 (147700), IDH2 (147650), IDH3B (604526), ISCU (611911), ITPA (147520), KARS (601421), KHK (614058), KIF1B (605995), L2HGDH (609584), LAMP2 (309060), LARS2 (604544), LDHA (150000), LDHB (150100), LIAS (607031), LIPE (151750), LIPT1 (610284), LRPPRC (607544), LRRK2 (609007), LYRM4 (613311), LYRM7 (615831), MARS (156560), MARS2 (609728), MCEE (608419), MDH2 (154100), MFN2 (608507), C20ORF72 (615076), MLYCD (606761), 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), NT5C3 (606224), NTHL1 (602656), NUBPL (613621), OCRL (300535), OGDH (613022), OPA1 (605290), OPA3 (606580), OXCT1 (601424), PANK2 (606157), PC (608786), PCK1 (614168), PDHA1 (300502), PDHB (179060), PDHX (608769), PDK3 (300906), PDP1 (605993), PDSS1 (607429), PDSS2 (610564), PFKM (610681), PGAM2 (612931), PGK1 (311800), PGM1 (171900), PGM3 (172100), PHKA1 (311870), PHKA2 (300798), PHKB (172490), PHKG2 (172471), PKLR (609712), PNPLA2 (609059), PNPT1 (610316), POLG (174763), POLG2 (604983), PPARGC1B (608886), PPOX (600923), PRKAG2 (602743), PRKAG3 (604976), PUS1 (608109), PYGL (613741), PYGM (608455), RARS (107820), RARS2 (611524), RMND1 (614917), RMRP (157660), RPL35A (180468), RPS14 (130620), RRM2B (604712), RYR1 (180901), SARS2 (612804), SCO1 (603644), SCO2 (604272), SCP2 (184755), SDHA (600857), SDHAF1 (612848), SDHAF2 (613019), SDHB (185470), SDHC (602413), SDHD (602690), SECISBP2 (607693), SERAC1 (614725), SETX (608465), SI (609845), SLC16A1 (600682), SLC19A3 (606152), SLC22A5 (603377), SLC25A1 (190315), SLC25A12 (603667), SLC25A16 (139080), SLC25A19 (606521), SLC25A20 (613698), SLC25A22 (609302), SLC25A3 (600370), SLC25A32 (610815), SLC25A38 (610819), SLC25A4 (103220), SLC25A42 (610823), SLC27A4 (604194), SLC2A1 (138140), SLC2A10 (606145), SLC2A2 (138160), SLC33A1 (603690), SLC37A4 (602671), GPR172A (607882), SLC6A8 (300036), SOD2 (147460), SPG7 (602783), SPTLC1 (605712), ST3GAL5 (604402), SUCLA2 (603921), SUCLG1 (611224), C7orf10 (609187), SUMO4 (608829), SUOX (606887), SURF1 (185620), TACO1 (612958), TALDO1 (602063), TAP1 (170260), TARS2 (612805), TAZ (300394), TBCD (604649), TECR (610057), TFAM (600438), TIMM50 (607381), TIMM8A (300356), TK2 (188250), TKT (606781), TMEM126A (612988), TMEM70 (612418), TMLHE (300777), TPI1 (190450), 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), URod (613521), UROS (606938), VARS2 (612802), WARS2 (604733), YARS2 (610957).


    Cobalamin/Homocysteine/Methionine Metabolism Deficiency (NextGen Sequencing Panel and Copy Number Analysis; 19 Genes)

    ADK (102750), AHCY (180960), ALDH6A1 (603178), CBS (613381), CD320 (606475), CTH (607657), GNMT (606628), LMBRD1 (612625), MAT1A (610550), MCEE (608419), MMAA (607481), MMAB (607568), MMACHC (609831), MMADHC (611935), MTHFR (607093), MTR (156570), MTRR (602568), MUT (609058), TCN2 (613441).


    Charcot-Marie-Tooth Disease, Demyelinating (NextGen Sequencing Panel and Copy Number Analysis; 143 Genes + mtDNA)

    AARS (601065), ABCD1 (300371), ACO2 (100850), ACOX1 (609751), AFG3L2 (604581), AIFM1 (300169), ALDH3A2 (609523), ALDH6A1 (603178), ALG2 (607905), AP3D1 (607246), AP4M1 (602296), ARCN1 (600820), ARHGEF10 (608136), ARNT2 (606036), ARSA (607574), ASNS (108370), ASPA (608034), ATP7B (606882), BAG3 (603883), BRPF1 (602410), BSCL2 (606158), C12orf65 (613541), COQ7 (601683), COX6A1 (602072), CTDP1 (604927), DDOST (602202), DHFR (126060), DHTKD1 (614984), DNAJC3 (601184), DNM1L (603850), DNM2 (602378), DPM1 (603503), DYNC1H1 (600112), EGR2 (129010), ELOVL4 (605512), ERCC3 (133510), ERCC6 (609413), ERCC8 (609412), FBLN5 (604580), FGD4 (611104), FIG4 (609390), FLVCR1 (609144), FOLR1 (136430), FOXG1 (164874), FOXP1 (605515), GAA (606800), GABRB3 (137192), GALC (606890), GAN (605379), GARS (600287), GDAP1 (606598), GIF (609342), GJB1 (304040), GJC2 (608803), GLUL (138290), GNB4 (610863), GPR56 (604110), HARS (142810), HINT1 (601314), HK1 (142600), HSD17B4 (601860), HSPB1 (602195), HSPB8 (608014), HTRA1 (602194), IARS2 (612801), IER3IP1 (609382), INF2 (610982), ITPA (147520), KARS (601421), KIDINS220 (615759), KIF1A (601255), LITAF (603795), LMNA (150330), LRSAM1 (610933), MANBA (609489), MAT1A (610550), MED25 (610197), MFN2 (608507), MOCS1 (603707), MOCS2 (603708), MPZ (159440), MRPS22 (605810), mtDNA (NA), MTMR2 (603557), MTTP (157147), NAGA (104170), NARS2 (612803), NDRG1 (605262), NEFL (162280), PC (608786), PDK3 (300906), PDYN (131340), PEX11B (603867), PEX16 (603360), PEX19 (600279), PEX5 (600414), PEX7 (601757), PGBD3 (609413), PGM3 (172100), PHGDH (606879), PIGV (610274), PLEKHG5 (611101), PMP22 (601097), SGK196 (615247), PRDM12 (616458), PRMT7 (610087), PRPS1 (311850), PRX (605725), PSAP (176801), PURA (600473), RAB7A (602298), RMND1 (614917), RNASEH1 (604123), SBF1 (603560), SBF2 (607697), SEPT9 (604061), SH3TC2 (608206), SLC12A6 (604878), SLC16A2 (300095), SLC1A4 (600229), SLC25A1 (190315), SLC25A12 (603667), SLC25A22 (609302), SLC35A2 (314375), SLC6A8 (300036), SPG11 (610844), SPTAN1 (182810), SUCLA2 (603921), SUMF1 (607939), SURF1 (185620), TBC1D24 (613577), TFG (602498), TMTC3 (617218), TRIM2 (614141), TRMT5 (611023), TRPV4 (605427), TTR (176300), TYMP (131222), UBA5 (610552), VCP (601023), VPS33A (610034), YARS (603623), ZC4H2 (300897), ZNF335 (610827).


    Charcot-Marie-Tooth Disease, Axonal (NextGen Sequencing Panel and Copy Number Analysis; 113 Genes + mtDNA)

    AAAS (605378), AARS (601065), ABCD1 (300371), AFG3L2 (604581), AIFM1 (300169), AMPD2 (102771), AP1S2 (300629), APTX (606350), ARHGEF10 (608136), ATAD3A (612316), ATP13A2 (610513), ATP7B (606882), B4GALNT1 (601873), BAG3 (603883), BSCL2 (606158), C10ORF2 (606075), C12orf65 (613541), C19orf12 (614297), CLP1 (608757), COQ7 (601683), COX6A1 (602072), CSF1R (164770), CTDP1 (604927), CTSD (116840), CYP2U1 (610670), DARS2 (610956), DDHD1 (614603), DGUOK (601465), DHTKD1 (614984), DNAJB2 (604139), DNM2 (602378), DYNC1H1 (600112), EGR2 (129010), ELOVL5 (611805), EXOSC3 (606489), FBLN5 (604580), FGD4 (611104), FGF14 (601515), FIG4 (609390), FTL (134790), GAN (605379), GARS (600287), GBE1 (607839), GDAP1 (606598), GIF (609342), GJB1 (304040), GJC2 (608803), GNB4 (610863), HADHB (143450), HARS (142810), HINT1 (601314), HK1 (142600), HSD17B4 (601860), HSPB1 (602195), HSPB8 (608014), IBA57 (615316), IGHMBP2 (600502), INF2 (610982), KARS (601421), KIF1A (601255), KIF1B (605995), KIF5A (602821), LITAF (603795), LMNA (150330), LRSAM1 (610933), MARS (156560), MED25 (610197), MFN2 (608507), MICU1 (605084), MME (120520), MOCS1 (603707), MOCS2 (603708), MPZ (159440), MTMR2 (603557), NAGA (104170), NAGLU (609701), NDRG1 (605262), NEFH (162230), NEFL (162280), OPA1 (605290), PDK3 (300906), PEX10 (602859), PEX2 (170993), PLA2G6 (603604), PLEKHG5 (611101), PMP22 (601097), PNPLA6 (603197), PRICKLE1 (608500), PRPS1 (311850), PRX (605725), PYROXD1 (617220), RAB7A (602298), SBF1 (603560), SBF2 (607697), SEPT9 (604061), SH3TC2 (608206), SLC12A6 (604878), SLC25A19 (606521), SLC25A46 (610826), GPR172A (607882), SPG11 (610844), SUCLA2 (603921), TDP1 (607198), TFG (602498), TMEM126A (612988), TRIM2 (614141), TRPV4 (605427), TSFM (604723), TTR (176300), TUBB3 (602661), TYMP (131222), VCP (601023), YARS (603623).


    Charcot-Marie-Tooth Hastalığı (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 189 Gen + mtDNA)

    AAAS (605378), AARS (601065), ABCD1 (300371), ACO2 (100850), ACOX1 (609751), AFG3L2 (604581), AIFM1 (300169), ALDH3A2 (609523), ALDH6A1 (603178), ALG2 (607905), AMPD2 (102771), AP1S2 (300629), AP3D1 (607246), AP4M1 (602296), APTX (606350), ARCN1 (600820), ARHGEF10 (608136), ARNT2 (606036), ARSA (607574), ASNS (108370), ASPA (608034), ATAD3A (612316), ATP13A2 (610513), ATP7B (606882), B4GALNT1 (601873), BAG3 (603883), BRPF1 (602410), BSCL2 (606158), C10ORF2 (606075), C12orf65 (613541), C19orf12 (614297), CLP1 (608757), COQ7 (601683), COX6A1 (602072), CSF1R (164770), CTDP1 (604927), CTSD (116840), CYP2U1 (610670), DARS2 (610956), DDHD1 (614603), DDOST (602202), DGUOK (601465), DHFR (126060), DHTKD1 (614984), DNAJB2 (604139), DNAJC3 (601184), DNM1L (603850), DNM2 (602378), DPM1 (603503), DYNC1H1 (600112), EGR2 (129010), ELOVL4 (605512), ELOVL5 (611805), ERCC3 (133510), ERCC6 (609413), ERCC8 (609412), EXOSC3 (606489), FBLN5 (604580), FGD4 (611104), FGF14 (601515), FIG4 (609390), FLVCR1 (609144), FOLR1 (136430), FOXG1 (164874), FOXP1 (605515), FTL (134790), GAA (606800), GABRB3 (137192), GALC (606890), GAN (605379), GARS (600287), GBE1 (607839), GDAP1 (606598), GIF (609342), GJB1 (304040), GJC2 (608803), GLUL (138290), GNB4 (610863), GPR56 (604110), HADHB (143450), HARS (142810), HINT1 (601314), HK1 (142600), HSD17B4 (601860), HSPB1 (602195), HSPB8 (608014), HTRA1 (602194), IARS2 (612801), IBA57 (615316), IER3IP1 (609382), IGHMBP2 (600502), INF2 (610982), ITPA (147520), KARS (601421), KIDINS220 (615759), KIF1A (601255), KIF1B (605995), KIF5A (602821), LITAF (603795), LMNA (150330), LRSAM1 (610933), MANBA (609489), MARS (156560), MAT1A (610550), MED25 (610197), MFN2 (608507), MICU1 (605084), MME (120520), MOCS1 (603707), MOCS2 (603708), MPZ (159440), MRPS22 (605810), MTMR2 (603557), MTTP (157147), NAGA (104170), NAGLU (609701), NARS2 (612803), NDRG1 (605262), NEFH (162230), NEFL (162280), OPA1 (605290), PC (608786), PDK3 (300906), PDYN (131340), PEX10 (602859), PEX11B (603867), PEX16 (603360), PEX19 (600279), PEX2 (170993), PEX5 (600414), PEX7 (601757), PGBD3 (609413), PGM3 (172100), PHGDH (606879), PIGV (610274), PLA2G6 (603604), PLEKHG5 (611101), PMP22 (601097), PNPLA6 (603197), SGK196 (615247), PRDM12 (616458), PRICKLE1 (608500), PRMT7 (610087), PRPS1 (311850), PRX (605725), PSAP (176801), PURA (600473), PYROXD1 (617220), RAB7A (602298), RMND1 (614917), RNASEH1 (604123), SBF1 (603560), SBF2 (607697), SEPT9 (604061), SH3TC2 (608206), SLC12A6 (604878), SLC16A2 (300095), SLC1A4 (600229), SLC25A1 (190315), SLC25A12 (603667), SLC25A19 (606521), SLC25A22 (609302), SLC25A46 (610826), SLC35A2 (314375), GPR172A (607882), SLC6A8 (300036), SPG11 (610844), SPTAN1 (182810), SUCLA2 (603921), SUMF1 (607939), SURF1 (185620), TBC1D24 (613577), TDP1 (607198), TFG (602498), TMEM126A (612988), TMTC3 (617218), TRIM2 (614141), TRMT5 (611023), TRPV4 (605427), TSFM (604723), TTR (176300), TUBB3 (602661), TYMP (131222), UBA5 (610552), VCP (601023), VPS33A (610034), YARS (603623), ZC4H2 (300897), ZNF335 (610827).


    Cellular Energetics Ophthalmoplegia Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 22 Genes + mtDNA)

    ACADS (606885), AFG3L2 (604581), APTX (606350), C10ORF2 (606075), C12orf65 (613541), CLPP (601119), EARS2 (612799), FOXRED1 (613622), HARS2 (600783), HCCS (300056), LARS2 (604544), C20ORF72 (615076), MPV17 (137960), OPA1 (605290), POLG (174763), POLG2 (604983), RRM2B (604712), RYR1 (180901), SCO2 (604272), SDHAF1 (612848), SLC19A3 (606152), TYMP (131222).


    Carbohydrate Metabolism Hepatomegaly (NextGen Sequencing Panel and Copy Number Analysis; 11 Genes)

    FBP1 (611570), G6PC (613742), G6PC3 (611045), GAA (606800), GBE1 (607839), PHKA2 (300798), PHKB (172490), PHKG2 (172471), PYGL (613741), SLC2A2 (138160), SLC37A4 (602671).


    Çocukluk Çağı Akut Miyeloid Lösemi (AML) Paneli

    BCR/ABL [t(9;22)(q34;q11.2)], IGH/MYC [t(8;14) (q24;q32)], TEL/AML1 [t(12;21)(p13;q22)], MLL [t(4;11)(q21;q23)], CCND1/IGH [t(11;14)(q13;q32)]


    Çocukluk Çağı Akut Lenfositik Lösemi (ALL) Paneli

    ETO/AML1 [t(8;21)(q22;q22)], PML/RARA [t(15;17)(q22;q21)], CBFB [t(16p13;1q22), inv(16)], EGR1 (5q31), 7q31, Kromozom 5


    Cilt Kanseri Paneli, Hedef Mutasyon

    CDKN2A, EPCAM, MC1R, MITF, MLH1, MSH2, MSH6, PMS1, PMS2, POT1, PTCH1, XRCC3