• Nörolojik Hastalıklar (Panel)

    A2M, AAAS, AANAT, AARS, AARS2, AASS, ABAT, ABCA1, ABCB7, ABCC6, ABCC8, ABCD1, ABCD4, ABHD12, ABHD5, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACE, ACKR1, ACO2, ACOX1, ACSF3, ACSL4, ACTA1, ACTA2, ACTB, ACTG1, ACVRL1, ACY1, ADAM10, ADAR, ADCY5, ADGRG1, ADGRV1, ADK, ADNP, ADSL, AFF2, AFG3L2, AGA, AGK, AGL, AGRN, AGXT, AHCY, AHI1, AIFM1, AIMP1, AKT1, AKT3, ALAD, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALOX5AP, ALS2, ALX1, ALX3, ALX4, AMACR, AMN, AMPD1, AMPD2, AMT, ANG, ANK3, ANKRD11, ANO10, ANO3, ANO5, AP1S1, AP1S2, AP3B1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APOA1, APOE, APP, APTX, AR, ARFGEF2, ARG1, ARHGAP31, ARHGEF10, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARL13B, ARL6, ARSA, ARSB, ARSE, ARSI, ARX, ASAH1, ASCL1, ASL, ASNS, ASPA, ASPM, ASS1, ASXL1, ASXL3, ATCAY, ATIC, ATL1, ATM, ATP13A2, ATP1A2, ATP1A3, ATP2A1, ATP2A2, ATP2B3, ATP2B4, ATP5E, ATP6AP2, ATP6V0A2, ATP7A, ATP7B, ATP8A2, ATPAF2, ATR, ATRX, ATXN3, B3GLCT, B4GALNT1, B4GALT1, B9D1, B9D2, BAG3, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCKDK, BCOR, BCS1L, BDNF, BEST1, BICD2, BIN1, BLOC1S3, BLOC1S6, BOLA3, BRAF, BRAT1, BRWD3, BSCL2, BSND, C10orf2, C12orf57, C12orf65, C19orf12, C5orf42, C9orf72, CA8, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1H, CACNA1S, CACNB4, CACNG2, CAMTA1, CAPN3, CASC5, CASK, CASR, CAV3, CBL, CC2D1A, CC2D2A, CCDC28B, CCDC78, CCDC88C, CCM2, CCT5, CD207, CD320, CD36, CD59, CD96, CDH15, CDK11A, CDK5RAP2, CDKL5, CDON, CENPJ, CEP135, CEP152, CEP290, CEP41, CEP63, CERS1, CFL2, CHAT, CHCHD10, CHD2, CHD7, CHD8, CHMP1A, CHMP2B, CHRM3, CHRNA1, CHRNA2, CHRNA4, CHRNB1, CHRNB2, CHRND, CHRNE, CHRNG, CHSY1, CISD2, CISH, CIZ1, CLCN1, CLCN2, CLCNKA, CLCNKB, CLIC2, CLN3, CLN5, CLN6, CLN8, CNBP, CNTN1, CNTNAP2, CNTNAP4, COA5, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL12A1, COL18A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COL7A1, COLQ, COQ2, COQ8A, COQ9, COX10, COX15, COX6A1, COX6B1, CP, CPA6, CPT2, CR1, CRADD, CRBN, CREBBP, CRYAB, CSF1R, CSF2RB, CSPP1, CST3, CSTB, CTC1, CTDP1, CTNNB1, CTSD, CUL4B, CWF19L1, CYP11B2, CYP27A1, CYP2U1, CYP7B1, DAG1, DARS2, DBT, DCAF17, DCTN1, DCX, DDHD1, DDHD2, DDOST, DEPDC5, DES, DGUOK, DHCR7, DHH, DHTKD1, DIAPH3, DKC1, DLD, DLG3, DMD, DNAH9, DNAJB2, DNAJB6, DNAJC19, DNAJC5, DNAJC6, DNM1L, DNM2, DNMT1, DOCK8, DOK7, DOLK, DPAGT1, DPM1, DPM3, DRD2, DRD3, DSC3, DST, DTNBP1, DYNC1H1, DYNC2H1, DYRK1A, DYSF, EARS2, EBP, EDN3, EDNRB, EEF2, EFHC1, EFTUD2, EGR2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF4E, EIF4G1, ELK1, ELOVL4, ELOVL5, EMD, EMX2, ENO3, ENTPD1, EOMES, EP300, EPB41L1, EPM2A, ERBB4, ERCC1, ERCC2, ERCC5, ERCC6, ERLIN1, ERLIN2, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EXOC8, EXOSC3, EXOSC8, F2, F5, FA2H, FADD, FAM126A, FAM134B, FANCB, FASTKD2, FBLN5, FBXO38, FBXO7, FCGR2B, FGA, FGD1, FGD4, FGF10, FGF14, FGFR1, FGFR2, FGFR3, FH, FHL1, FIG4, FKRP, FKTN, FLNA, FLNC, FLRT1, FLVCR1, FLVCR2, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, FOXP3, FOXRED1, FREM1, FRG1, FRMD7, FTL, FTO, FTSJ1, FUS, FXN, FZD9, GAA, GABRA1, GABRB3, GABRD, GABRG2, GAD1, GALC, GALNS, GAMT, GAN, GARS, GATM, GBA, GBA2, GBE1, GCDH, GCH1, GCSH, GDAP1, GDI1, GDNF, GFAP, GFER, GFM1, GFPT1, GIGYF2, GJB1, GJB3, GJC2, GK, GLB1, GLDC, GLI2, GLI3, GLRA1, GLRB, GM2A, GMPPB, GNAL, GNB4, GNE, GNPAT, GNS, GOSR2, GP1BA, GPC3, GPR143, GRIA3, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIP1, GRM1, GRN, GSN, GUSB, GYG1, GYS1, HADHA, HADHB, HCCS, HDAC4, HDAC8, HEPACAM, HERC2, HESX1, HEXA, HEXB, HFE, HGSNAT, HINT1, HK1, HMGCS2, HNRNPDL, HOXA1, HOXD10, HPCA, HPD, HPRT1, HPS1, HPS3, HPS4, HPS5, HPS6, HPSE2, HRAS, HSD17B10, HSD17B4, HSPB1, HSPB3, HSPB8, HSPD1, HTRA1, HTRA2, HTT, HUWE1, HYAL1, ICAM1, ICK, IDS, IDUA, IER3IP1, IFRD1, IFT140, IFT27, IGBP1, IGF1, IGHMBP2, IKBKAP, IKBKG, IL11RA, IL1RAPL1, IL1RN, INF2, INPP5E, INS, IQSEC2, IRX5, ISPD, ITM2B, ITPR1, JRK, KANK1, KARS, KAT6B, KBTBD13, KCNA1, KCNC3, KCND3, KCNE1L, KCNJ1, KCNJ10, KCNJ11, KCNK18, KCNK9, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM5C, KDM6A, KIAA0196, KIAA2022, KIF11, KIF1A, KIF1B, KIF1C, KIF21A, KIF5A, KIF7, KIRREL3, KLF8, KMT2A, KMT2D, KRAS, KRIT1, KRT5, L1CAM, LAMA2, LAMB1, LAMB2, LAMC3, LAMP2, LARGE, LBR, LDB3, LDHA, LGI1, LHX4, LIMS2, LINS, LITAF, LMBRD1, LMNA, LMNB1, LPIN1, LPIN2, LRP2, LRPPRC, LRRK2, LRSAM1, LYZ, LZTFL1, MAG, MAgeL2, MAGI2, MAGT1, MAMLD1, MAN1B1, MAOA, MAPK10, MAPT, MARS, MARS2, MASP1, MATR3, MBD5, MBTPS2, MCEE, MCPH1, MECP2, MED12, MED17, MED23, MED25, MEF2C, MET, MFN2, MFSD8, MGAT2, MID1, MKKS, MKS1, MLC1, MMAA, MMAB, MMACHC, MMADHC, MOGS, MPDU1, MPDZ, MPI, MPV17, MPZ, MRE11A, MSX1, MSX2, MTFMT, MTHFR, MTM1, MTMR14, MTMR2, MTO1, MTOR, MTPAP, MTR, MTRR, MUSK, MUT, MVK, MYCN, MYF6, MYH14, MYH7, MYH9, MYO5A, MYOT, NAA10, NAGA, NAGLU, NAT8L, NBN, NDE1, NDP, NDRG1, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NEDD4L, NEFH, NEFL, NEU1, NF1, NFIX, NFU1, NGF, NHEJ1, NHLRC1, NHS, NIPA1, NIPBL, NKX2-1, NLGN3, NLGN4X, NLRP12, NLRP3, NOD2, NOG, NOL3, NOP56, NOS2, NOS3, NOTCH2, NOTCH3, NPC1, NPC2, NPHP1, NPHP3, NRAS, NRG1, NRXN1, NSD1, NSDHL, NSUN2, NT5C2, NTRK1, NTRK2, NUBPL, NXF5, OCLN, OCRL, OFD1, OPA1, OPA3, OPHN1, OPTN, ORC1, OTC, PAFAH1B1, PAH, PAK3, PANK2, PARK2, PARK7, PAX6, PC, PCBD1, PCDH19, PCK2, PCNT, PDCD10, PDE6D, PDE8B, PDHA1, PDK3, PDSS1, PDSS2, PDYN, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PFN1, PGAM2, PGAP1, PGK1, PGM1, PHF6, PHF8, PHKA1, PHOX2B, PHYH, PIEZO2, PIGA, PIGL, PIGN, PIGO, PIGV, PIK3CA, PIK3R2, PIK3R5, PINK1, PLA2G6, PLCB1, PLEC, PLEKHG4, PLEKHG5, PLP1, PMM2, PMP22, PNKD, PNKP, PNPLA2, PNPLA6, PNPO, POGZ, POLG, POLG2, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PORCN, PPT1, PQBP1, PREPL, PRICKLE1, PRICKLE2, PRKAG2, PRKCG, PRKCH, PRKRA, PRNP, PROP1, PRPH2, PRPS1, PRRT2, PRRX1, PRSS12, PRX, PSAP, PSEN1, PSEN2, PTCH1, PTEN, PTF1A, PTPN11, PTS, PUS1, PVRL1, PYGM, QARS, QDPR, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAB40AL, RAB7A, RABGGTA, RAD21, RAD50, RAF1, RAI1, RANBP2, RAPSN, RARS2, RBBP8, RBFOX1, RBFOX3, RBM10, RBM8A, REEP1, REEP2, RELN, RET, RFT1, RIN2, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF135, RNF170, RNU4ATAC, ROGDI, ROR2, RPGRIP1L, RPL10, RPS6KA3, RRM2B, RTN2, RUBCN, RYR1, SACS, SAMHD1, SBF1, SBF2, SCARB2, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1, SCO2, SCP2, SDCCAG8, SDHA, SDHAF1, SEPN1, SEPSECS, SERPINI1, SETBP1, SETD2, SETX, SGCA, SGCB, SGCD, SGCE, SGCG, SGSH, SH3TC2, SHANK2, SHANK3, SHH, SHOC2, SHROOM4, SIGMAR1, SIL1, SIX3, SIX6, SKI, SLC12A6, SLC13A5, SLC16A2, SLC17A5, SLC19A3, SLC1A3, SLC20A2, SLC22A5, SLC25A12, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC2A1, SLC30A10, SLC33A1, SLC35A1, SLC35A2, SLC35C1, SLC3A1, SLC4A1, SLC4A4, SLC5A7, SLC6A1, SLC6A3, SLC6A5, SLC6A8, SLC9A6, SLC9A9, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SMCHD1, SMN1, SMN2, SMPD1, SMS, SNAP29, SNCA, SNCAIP, SNCB, SNIP1, SNX3, SOBP, SOD1, SORL1, SOS1, SOX10, SOX3, SPAST, SPG11, SPG20, SPG21, SPG7, SPR, SPTAN1, SPTBN2, SPTLC1, SPTLC2, SRD5A3, SRPX2, ST3GAL3, ST3GAL5, STIL, STRADA, STUB1, STXBP1, SUCLA2, SUCLG1, SUMF1, SURF1, SYN1, SYNE1, SYNE2, SYNGAP1, SYNJ1, SYP, SYT14, SZT2, TACO1, TAF1, TAF2, TARDBP, TAS2R38, TAZ, TBC1D24, TBCE, TBL1XR1, TBX1, TCAP, TCF4, TCTN1, TCTN2, TCTN3, TDP1, TECPR2, TECR, TFAP2A, TFAP2B, TFG, TG, TGFB1, TGFB2, TGFBR1, TGFBR2, TGIF1, TGM6, TH, THAP1, TICAM1, TIMM8A, TIRAP, TK2, TLR3, TLR5, TMCO1, TMEM126A, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM67, TMEM70, TMLHE, TNF, TNFSF4, TNNT1, TNPO3, TOR1A, TP63, TPK1, TPM2, TPM3, TPP1, TRAF3, TRAPPC11, TRAPPC9, TREM2, TREX1, TRIM2, TRIM32, TRPM6, TRPM7, TRPS1, TRPV4, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSHR, TSPAN7, TTBK2, TTC19, TTC21B, TTC8, TTI2, TTN, TTPA, TTR, TUBA1A, TUBA4A, TUBA8, TUBB2B, TUBB3, TUBB4A, TUBGCP6, TUSC3, TWIST1, TYMP, TYROBP, UBA1, UBE2A, UBE3A, UBQLN2, UCHL1, UMPS, UNC93B1, UPB1, UPF3B, UQCRB, UQCRQ, USP8, USP9X, VAMP1, VANGL1, VAPB, VAX1, VCP, VDAC1, VEGFA, VHL, VIPAS39, VLDLR, VPS13A, VPS13B, VPS35, VPS37A, VRK1, WAC, WDPCP, WDR45, WDR48, WDR62, WDR81, WFS1, WNK1, WNT10A, WNT3, WNT5A, WNT7A, WWOX, XBP1, XK, YAP1, YARS, YWHAE, ZBTB16, ZBTB18, ZCCHC12, ZDHHC15, ZDHHC9, ZEB2, ZFR, ZFYVE26, ZFYVE27, ZIC2, ZIC3, ZNF335, ZNF423, ZNF592, ZNF711, ZNF81


    Neonatal Diyabet (Panel)

    ABCC8, FOXP3, G6PC2, GCK, GLIS3, INS, INSR, KCNJ11, NEUROG3, PDX1


    Neonatal Diyabet (Delesyon&Duplikasyon)

    ABCC8, GCK, PDX1, INS, KCNJ11


    Nemalin Miyopatisi (Panel)

    ACTA1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3, NEB, TNNT1, TPM2, TPM3


    Nefronofitizi (Panel)

    NPHP1, INVS, NPHP3, NPHP4, ANKS6, IQCB1, CEP164, CEP290, GLIS2, RPGRIP1L, NEK8, SDCCAG8, ZNF423


    Nefrotik Sendrom (Panel)

    ARHGDIA, DGKE, LAMB2, NPHS1, NPHS2, PLCE1, WT1


    Nörofibromatozis (Panel)

    NF1, NF2, SMARCB1, SPRED1


    Nörofibromatozis (Delesyon&Duplikasyon)

    SMARCB1, SPRED1, NF2, NF1


    Nöronal Göç Bozuklukları (Panel)

    ACTB, ACTG1, ARFGEF2, ARX, COL18A1, COL4A1, CPT2, DCX, EMX2, EOMES, FGFR3, FH, FKRP, FKTN, FLNA, ADGRG1, IER3IP1, ISPD, LAMA2, LAMC3, LARGE, MED12, MEF2C, OCLN, PAFAH1B1, PAX6, PEX7, POMGNT1, POMT1, POMT2, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RELN, SNAP29, SRPX2, TUBA1A, TUBA8, TUBB2B, TUBB3, VDAC1, WDR62


    Nöronal Göç Bozuklukları (Delesyon&Duplikasyon)

    FLNA, FGFR3, POMT2, FH, ARX, POMGNT1, DCX, LARGE, LAMA2, PQBP1, PAX6, POMT1, FKRP, MEF2C, PAFAH1B1, FKTN


    Nonsendromik Hipotrikoz (Panel)

    APCDD1, CDSN, DSG4, HR, KRT71, KRT74, LIPH, LPAR6, RPL21, SNRPE


    Noonan - CFC Sendromu (Panel)

    BRAF, CBL, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA2, RIT1, SHOC2, SOS1, SOS2, SPRED1


    Noonan Sendromu (YND Panel ve Kopya Sayısı Varyasyon Analizi; 8 Gen)

    BRAF (164757), KRAS (190070), MAP2K1 (176872), NRAS (164790), PTPN11 (176876), RAF1 (164760), RIT1 (609591), SOS1 (182530).


    Nonsyndromic Intellectual Disability (NextGen Sequencing Panel and Copy Number Analysis; 243 Genes)

    ACADM (607008), ACADS (606885), ACADSB (600301), ACAT1 (607809), ACSL4 (300157), ACY1 (104620), ADSL (608222), AFF2 (300806), AIMP1 (603605), AIP (605555), ALDH5A1 (610045), ALDH7A1 (107323), ALG6 (604566), AMT (238310), ANK3 (600465), ARFGEF2 (605371), ARG1 (608313), ARHGEF6 (300267), ARHGEF9 (300429), ASPA (608034), ASS1 (603470), ATP1A2 (182340), ATP5A1 (164360), ATP6AP2 (300556), AUH (600529), BCL11B (606558), C12orf65 (613541), C19orf12 (614297), CA5A (114761), CACNA1A (601011), CACNG2 (602911), CARS2 (612800), CASC5 (609173), CASK (300172), CC2D1A (610055), CCDC88C (611204), CDC45 (603465), CDH15 (114019), CDK5RAP2 (608201), CERS1 (606919), CHD2 (602119), CHRNA4 (118504), CNKSR2 (300724), COASY (609855), CPS1 (608307), CPT2 (600650), CRADD (603454), CRBN (609262), CSTB (601145), CTH (607657), CTNNB1 (116806), DARS (603084), DBT (248610), DEAF1 (602635), DEPDC5 (614191), DHFR (126060), DLAT (608770), DLD (238331), DLG3 (300189), DNAJC12 (606060), DNAJC6 (608375), DNM1 (602377), DPYS (613326), DYNC1H1 (600112), EDC3 (609842), EPB41L1 (602879), EPM2A (607566), C6ORF70 (615532), ETHE1 (608451), EXOSC3 (606489), FAM126A (610531), FARS2 (611592), FASTKD2 (612322), FGF14 (601515), FKTN (607440), FOLR1 (136430), FOXP1 (605515), FOXP2 (605317), FRMPD4 (300838), FTCD (606806), FTSJ1 (300499), GABRA1 (137160), GABRB3 (137192), GAD1 (605363), GALC (606890), GCDH (608801), GCH1 (600225), GCSH (238330), GDI1 (300104), GFAP (137780), GFM1 (606639), GJC2 (608803), GLDC (238300), GLUD1 (138130), GNAO1 (139311), GNAQ (600998), GNB5 (604447), GPT2 (138210), GRIA3 (305915), GRID2 (602368), GRIK2 (138244), GRIN1 (138249), GRIN2A (138253), GRIN2B (138252), GTPBP3 (608536), GUF1 (617064), HADH (601609), HCFC1 (300019), HCN1 (602780), HECW2 (617245), HELLS (603946), HEPACAM (611642), HERC2 (605837), HEXB (606873), HPD (609695), HSPD1 (118190), IGF1R (147370), IL1RAPL1 (300206), IMPA1 (602064), INS (176730), IQSEC2 (300522), ITGA7 (600536), ITPA (147520), KATNAL2 (614697), KCNB1 (600397), KCNC3 (176264), KCNJ2 (600681), KCNQ2 (602235), KCNT1 (608167), KCTD7 (611725), KIAA0319 (609269), KIAA2022 (300524), KIF1A (601255), KIF2A (602591), KIF4A (300521), L2HGDH (609584), LAMA2 (156225), LAMB1 (150240), LAMC3 (604349), LYRM7 (615831), MAOA (309850), MARS2 (609728), MAT1A (610550), MBOAT7 (606048), MCCC1 (609010), MCPH1 (607117), MED23 (605042), MFSD2A (614397), MFSD8 (611124), MICU1 (605084), MID2 (300204), MLC1 (605908), MLYCD (606761), MMADHC (611935), MOCS2 (603708), BRP44L (614738), MPDZ (603785), MRPL3 (607118), NAGS (608300), NARS2 (612803), APOA1BP (608862), NDST1 (600853), NECAP1 (611623), NFIA (600727), NKAIN2 (609758), NLGN4X (300427), NT5C2 (600417), OTC (300461), PACRG (608427), PAFAH1B1 (601545), PAH (612349), PALB2 (610355), PCDH19 (300460), PDP1 (605993), PEPD (613230), PGAP1 (611655), PGAP2 (615187), PGBD3 (609413), PLA2G6 (603604), PLCB1 (607120), PLP1 (300401), POLA1 (312040), PRSS12 (606709), PSPH (172480), PTCHD1 (300828), PTPRT (608712), PTS (612719), PUS3 (616283), PYROXD1 (617220), RAB39B (300774), RARS (107820), RELN (600514), RNASEH1 (604123), RNF135 (611358), RPS6KA3 (300075), SASS6 (609321), SCN1A (182389), SCN2A (182390), SCN8A (600702), SCN9A (603415), SEPSECS (613009), SHH (600725), SHROOM4 (300579), SIX3 (603714), SLC13A5 (608305), SLC16A1 (600682), SLC19A3 (606152), SLC20A2 (158378), SLC25A1 (190315), SLC25A12 (603667), SLC25A22 (609302), SLC2A1 (138140), SLC39A14 (608736), SLC6A1 (137165), SLC9A9 (608396), SPAST (604277), SPR (182125), SPTAN1 (182810), ST3GAL3 (606494), STIL (181590), STX1B (601485), STXBP1 (602926), SYNGAP1 (603384), SYP (313475), SZT2 (615463), TBC1D24 (613577), TBL1X (300196), TBR1 (604616), TECR (610057), C1ORF70 (616101), TMLHE (300777), TNIK (610005), TSEN54 (608755), TSHR (603372), TSPAN7 (300096), TUBA1A (602529), TUSC3 (601385), USP27X (300975), WWOX (605131), ZC3H14 (613279), ZDHHC15 (300576), ZFYVE26 (612012), ZNF711 (314990).


    Non-Mitochondrial Neuronal Migration Disorders (NextGen Sequencing Panel and Copy Number Analysis; 98 Genes)

    ABAT (137150), ABCD3 (170995), AHDC1 (615790), AKT3 (611223), ARFGEF2 (605371), ARX (300382), ASNS (108370), ASPM (605481), ATP6V0A2 (611716), B3GALNT2 (610194), B3GNT1 (605517), CASK (300172), CDON (608707), CEP152 (613529), CNTNAP2 (604569), DCX (300121), DHCR24 (606418), DOK7 (610285), DYNC1H1 (600112), ERCC1 (126380), ERCC2 (126340), ERCC6 (609413), C6ORF70 (615532), 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), HUWE1 (300697), IER3IP1 (609382), ISPD (614631), KIF2A (602591), LAMB1 (150240), LAMC3 (604349), LARGE (603590), MED12 (300188), MEF2C (600662), MPDZ (603785), NFIX (164005), OCLN (602876), OFD1 (300170), PAFAH1B1 (601545), PEX1 (602136), PEX10 (602859), PEX13 (601789), PEX14 (601791), PEX16 (603360), PEX19 (600279), PEX2 (170993), PEX26 (608666), PEX3 (603164), PEX5 (600414), PIK3CA (171834), PIK3R2 (603157), PNKP (605610), POMGNT1 (606822), C3orf39 (614828), SGK196 (615247), POMT1 (607423), POMT2 (607439), PTCH1 (601309), RAPSN (601592), RELN (600514), RTTN (610436), SCN1A (182389), SHH (600725), SIX3 (603714), SMC1A (300040), SNAP29 (604202), SRD5A3 (611715), SRPX2 (300642), STIL (181590), TBC1D20 (611663), TBC1D24 (613577), TCTN3 (613847), TGIF1 (602630), TMEM5 (605862), TSC1 (605284), TUBA1A (602529), TUBA8 (605742), TUBB (191130), TUBB2A (615101), TUBB2B (612850), TUBB3 (602661), TUBG1 (191135), C14orf133 (613401), VPS33B (608552), WDR62 (613583), WNT1 (164820), ZIC2 (603073).


    Non-Mitochondrial Leukodystrophy/Leukoencephalopathy (NextGen Sequencing Panel and Copy Number Analysis; 53 Genes)

    ABAT (137150), ABCD1 (300371), ACOX1 (609751), ADAR (601059), ADK (102750), AIMP1 (603605), ALDH3A2 (609523), ARSA (607574), ASPA (608034), AUH (600529), B3GALNT2 (610194), CLCN2 (600570), CLN6 (606725), COL4A1 (120130), CSF1R (164770), CYP27A1 (606530), EIF2B1 (606686), EIF2B2 (606454), EIF2B3 (606273), EIF2B4 (606687), EIF2B5 (603945), FA2H (611026), FAM126A (610531), FKRP (606596), GFAP (137780), GJC2 (608803), HEPACAM (611642), HTRA1 (602194), KCNT1 (608167), L2HGDH (609584), LMNB1 (150340), MLC1 (605908), MLYCD (606761), MTTP (157147), NOTCH3 (600276), PAH (612349), PC (608786), PLP1 (300401), POLR3A (614258), POLR3B (614366), PRPS1 (311850), PTEN (601728), RNASEH2A (606034), RNASEH2B (610326), RNASEH2C (610330), SAMHD1 (606754), SCP2 (184755), SLC16A2 (300095), SOX10 (602229), STXBP1 (602926), TREM2 (605086), TREX1 (606609), TYROBP (604142).


    Non-Mitochondrial Comprehensive Ophthalmoplegia Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 32 Genes)

    ACTA1 (102610), AGRN (103320), ATXN1 (601556), ATXN2 (601517), ATXN3 (607047), ATXN7 (607640), BIN1 (601248), CHAT (118490), CHRNA1 (100690), CHRNB1 (100710), CHRND (100720), CHRNE (100725), COLQ (603033), DNM2 (602378), DOK7 (610285), GBA (606463), GRM1 (614831), HSD17B4 (601860), KIF21A (608283), MTM1 (300415), MTMR14 (611089), MUSK (601296), MYH2 (160740), PABPN1 (602279), RAPSN (601592), SEPN1 (606210), SLC19A3 (606152), SLC9A6 (300231), SPEG (615950), TPM3 (191030), TUBB3 (602661), ZNF592 (606937).


    Nörotransmitter Metabolizma Eksikliği (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 62 Gen)

    ABAT (137150), ALDH5A1 (610045), ALDH7A1 (107323), ARHGEF9 (300429), ASNS (108370), ATP1A3 (182350), CACNA1A (601011), CACNA1B (601012), CBS (613381), COMT (116790), DBH (609312), DDC (107930), DHFR (126060), DRD3 (126451), DRD4 (126452), DRD5 (126453), FOLR1 (136430), GABBR2 (607340), GABRA1 (137160), GABRB3 (137192), GABRD (137163), GABRG2 (137164), GAD1 (605363), GCH1 (600225), GLDC (238300), GLRA1 (138491), GLRB (138492), GLUL (138290), GNAQ (600998), GPHN (603930), HTR1A (109760), HTR2A (182135), MAOA (309850), MTHFD1 (172460), MTHFR (607093), PC (608786), PCBD1 (126090), PHGDH (606879), PITX3 (602669), PNPO (603287), PTS (612719), QDPR (612676), SCN3A (182391), SLC1A3 (600111), SLC46A1 (611672), SLC6A1 (137165), SLC6A2 (163970), SLC6A3 (126455), SLC6A4 (182138), SLC6A5 (604159), SLC6A9 (601019), SNAP25 (600322), SNAP29 (604202), SNCA (163890), SPR (182125), STXBP1 (602926), SYN1 (313440), SYN2 (600755), SYN3 (602705), SYP (313475), TH (191290), TPH2 (607478).


    Nörofibromatozis (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 21 Gen)

    ATM (607585), BRAF (164757), CBL (165360), HRAS (190020), KRAS (190070), MAP2K1 (176872), NF1 (613113), NF2 (607379), NRAS (164790), PTEN (601728), PTPN11 (176876), RAF1 (164760), RIT1 (609591), SDHAF2 (613019), SDHB (185470), SDHC (602413), SDHD (602690), SH3BP2 (602104), SHOC2 (602775), SOS1 (182530), SPRED1 (609291).


    Neurodegeneration with Brain Iron Accumulation (NextGen Sequencing Panel and Copy Number Analysis; 10 Genes)

    ATP13A2 (610513), C19orf12 (614298), COASY (609855), CP (117700), DCAF17 (612515), FA2H (611026), FTL (134790), PANK2 (606157), PLA2G6 (603604), WDR45 (300526).


    Non-Hodgkin Lenfoma (NHL) Paneli

    CCND1/IGH [t(11;14)(q13;q32)], IGH/BCL2 [t(14;18)(q32;q21)], IGH/MAF [t(14;16)(q32;q23)], IGH/MYC [t(8;14) (q24;q32)], P53 (17p13.1), Kromozom 7, Kromozom 8