• Anormal Mineralizasyon (Panel)

    ALPL, ANKH, AP2S1, CASR, CLCN5, CYP27B1, CYP2R1, DMP1, ENPP1, FGF23, GNA11, PHEX, PTH1R, SLC34A1, SLC34A3, SLC9A3R1, VDR


    Afibrinojenemi (Panel)

    FGA, FGB, FGG


    Agamaglobulinemi (Panel)

    BLNK, BTK, CD79A, CD79B, IGHM, IGLL1, LRRC8A, PIK3R1, SH2D1A


    Aicardi-Goutieres Sendromu (Panel)

    ADAR, IFIH1, TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1


    Aicardi-Goutieres Sendromu (Delesyon&Duplikasyon)

    RNASEH2B, RNASEH2A, TREX1, RNASEH2C, SAMHD1


    Albinizm (Panel)

    AP3B1, BLOC1S3, BLOC1S6, C10ORF11, DTNBP1, EDN3, EDNRB, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, KIT, LYST, MC1R, MITF, MLPH, MYO5A, OCA2, PAX3, RAB27A, SLC24A5, SLC45A2, SNAI2, SOX10, TYR, TYRP1


    Albinizm (Delesyon&Duplikasyon)

    EDNRB, PAX3, EDN3, SNAI2, SOX10, KIT, OCA2, GPR143, TYR, MITF


    Alport Sendromu (Panel)

    COL4A3, COL4A4, COL4A5


    Alzheimer Tipi Demans ve Demans (Panel)

    APOE, APP, PRNP, PSEN1, PSEN2, SORL1, TREM2


    Amyotrofik Lateral Skleroz (ALS) (Panel)

    ALS2, ANG, CHCHD10, CHMP2B, DCTN1, ERBB4, FIG4, FUS, HNRNPA1, MATR3, NEFH, OPTN, PFN1, PRPH, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP


    Aritmi, Herediter (Panel)

    AKAP9, ANK2, CACNA1C, CACNB2, CASQ2, CAV3, DSC2, DSG2, DSP, GPD1L, JUP, KCNA5, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, NPPA, PKP2, PLN, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SNTA1, TGFB3, TMEM43


    Aritmi, Herediter (Delesyon&Duplikasyon)

    DSG2, SCN5A, CAV3, PKP2, KCNQ1, KCNE2, DSC2, RYR2, KCNE1, KCNH2, TGFB3, JUP, KCNJ2, DSP


    Aritmojenik Sağ Ventriküler Kardiyomiyopati (Panel)

    DSP, DSG2, DSC2, JUP, PKP2, RYR2, TGFB3, TMEM43


    Aritmojenik Sağ Ventriküler Kardiyomiyopati (Delesyon&Duplikasyon)

    SCN5A, LMNA, DSG2, TGFB3, JUP, RYR2, PKP2, DSC2, DSP


    Artrogripozis (Panel)

    TPM2, MYBPC1, MYH3, TNNT3, TNNI2, MYH8, FBN2, PIEZO2, ECEL1, DOK7, RAPSN


    Ashkenazi (Panel)

    ABCC8 (c.3989-9G>A, p.F1387del (NM_000352.3)), ASPA (c.433-2A>G, p.Y231X, p.E285A, p.A305E (NM_001128085.1)), BCKDHB (c.548G>C, c.832G>A, c.1114G>T (NM_183050.2)), BLM (c.2207_2212delATCTGAinsTAGATTC (NM_000057.2)), BRCA1 (c.68_69delAG, c.5266dupC (NM_007294.3)), BRCA2 (c.5946delT (NM_000059.3 2)), CFTR (c.1521_1523delCTT, c.1519_1521delATC, c.3454G>C, c.3846G>A, c.3718-2477C>T, c.3909C>G, c.3808G>A, c.1040G>A, c.1865G>A, c.489+1G>T, c.1657C>T, c.262_263del, c.1652G>A, c.2988+1G>A, c.350G>A, c.579+1G>T, c.1000C>T, c.1679G>C, c.3484C>T, c.3528delC, c.254G>A, c.1364C>A, c.2052del, c.1766+1G>A, c.443T>C, 1078delT, c.1624G>T, c.2657+5G>A, c.1585-1G>A, c.178G>T (NM_000492.3)), CLRN1 (c.144T>G (NM_174878.2)), DLD (c.104dupA, c.685G>T (NM_000108.3)), FANCC (c.67delG, c.456+4A>T, NM_000136.2), G6PC (c.247C>T (NM_000151.3)), GBA (c.84dupG, c.115+1G>A, c.1448T>C, c.1226A>G, c.1604G>A, c.1297G>T (NM_001005741.2)), HEXA (c.1274_1277dupTATC, c.1421+1G>C, c.805G>A, c.739C>T, c.745C>T (NM_000520.4)), IKBKAP (c.2204+6T>C, c.2087G>C (NM_003640.3)), MCOLN1 (c.406-2A>G, 6.4kb del/ g.511_6943del (Exon 01 to part Exon 07) (NM_020533.2)), NEB (p.R2478_D2512del/ c.7431+1917_7536+372del (Exon 55 deletion))(NM_001271208.1)), PCDH15 (c.733C>T, (NM_033056.3)), SMPD1 (c.996delC, c.911T>C, c.1493G>, c.1829_1831delGCC (NM_000543.4)), PKHD1 (c.3761 (NM_138694.3)), TMEM216 (c.218G>T, (NM_001173991.2)), MPL (c.79+2T>A (NM_005373.2), CPT2 (c.338C>T, c.1239_1240del, c.1342T>C (NM_000098.2)), PMM2 (c.422G>A, c.338C>T, c.357C>A, c.691G>A (NM_000303.2)), FAH (c.782C>T (NM_000137.2)), FKTN (c.1167dup (NM_001079802.1)), ATP7B (c.3191A>C, c.3207C>A, c.2333G>T, c.1934T>G (NM_000053.2))


    Ashkenazi (Panel)

    ABCC8 (c.3989-9G>A, p.F1387del (NM_000352.3)), ASPA (p.Y231X, p.E285A, p.A305E (NM_001128085.1)), BCKDHB (c.548G>C, c.832G>A, c.1114G>T (NM_183050.2)), BLM (c.2207_2212delATCTGAinsTAGATTC (NM_000057.2)), BRCA1 (c.68_69delAG, c.5266dupC (NM_007294.3)), BRCA2 (c.5946delT (NM_000059.3 2)), CFTR (c.1521_1523delCTT, c.1519_1521delATC, c.3454G>C, c.3846G>A, c.3718-2477C>T, c.3909C>G, c.2988+1G>A, c.350G>A, c.1000C>T, c.254G>A, c.1364C>A, c.2052del, c.1624G>T, c.1585-1G>A (NM_000492.3)), DLD (c.104dupA, c.685G>T (NM_000108.3)), FANCC (c.456+4A>T, NM_000136.2), G6PC (c.247C>T (NM_000151.3)), GBA (c.84dupG, c.115+1G>A, c.1448T>C, c.1226A>G, c.1604G>A, c.1297G>T (NM_001005741.2)), HEXA (c.1274_1277dupTATC, c.1421+1G>C, c.805G>A, c.739C>T, c.745C>T (NM_000520.4)), IKBKAP (c.2204+6T>C (NM_003640.3)), MCOLN1 (c.406-2A>G, 6.4kb del/ g.511_6943del (Exon 01 to part Exon 07) (NM_020533.2)), SMPD1 (c.996delC, c.911T>C, c.1493G>T, c.1829_1831delGCC (NM_000543.4)), TMEM216 (c.218G>T, (NM_001173991.2))


    Atipik Hemolitik Üremik Sendrom (Panel)

    ADAMTS13, C3, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR5, CFI, DGKE, MMACHC, PIGA, THBD


    Ailesel Hemiplejik Migren (Panel)

    ATP1A2, CACNA1A, SCN1A


    Ailesel Hiperkolesterolemi (Panel)

    APOB, GHR, LDLR, PCSK9


    Ailesel Torasik Aort Anevrizması (Panel)

    ACTA2, BGN, CBS, LOX, MAT2A, MFAP5, MYH11, MYLK


    Akçaağaç Şurubu Hastalığı (Panel)

    BCKDHA, BCKDHB, DBT, DLD


    Atipik Mycobacterium Hastalığına Duyarlılık (Panel)

    CYBB, IFNGR1, IFNGR2, IKBKG, IL12A, IL12B, IL12RB1, IL12RB2, IRF8, ISG15, STAT1, TYK2


    Ağrı Sendromları (YND Panel ve Kopya Sayısı Varyasyon Analizi;16 Gen)

    ABCB1 (171050), COMT (116790), CYP2C19 (124020), CYP2C9 (601130), CYP2D6 (124030), GCH1 (600225), MC1R (155555), RYR1 (180901), SCN11A (604385), SLC6A4 (182138), TRPA1 (604775), UGT1A1 (191740), UGT1A10 (606435), UGT1A4 (606429), UGT1A6 (606431), UGT1A7 (606432).


    Ateş Sendromları (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 36 Gen)

    CARD14 (607211), CECR1 (607575), ELANE (130130), FOXP3 (NA), GCH1 (600225), HTR1A (109760), IL10 (124092), IL10RA (146933), IL10RB (123889), IL1RN (147679), IL36RN (605507), LPIN2 (605519), MEFV (608107), MVK (251170), NEFL (162280), NLRP12 (609648), NLRP3 (606416), NLRP7 (609661), NOD2 (605956), ORAI1 (610277), PLCG2 (600220), PSMB8 (177046), PSTPIP1 (606347), RBCK1 (610924), SCO2 (604272), SH3BP2 (602104), SLC19A3 (606152), SLC25A19 (606521), SLC29A3 (612373), TLR3 (603002), TMEM173 (612374), TNFRSF11A (603499), TNFRSF1A (191190), TPK1 (606370), TRAF3 (601896), TRNT1 (612907).


    Ailesel Hemiplejik Migren (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 5 Gen + mtDNA)

    ATP1A2 (182340), ATP1A3 (182350), CACNA1A (601011), PRRT2 (614386), SCN1A (182389).


    Ataksi / Epizodik Ataksi Bozuklukları (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 362 Gen + mtDNA)

    AAAS (605378), AARS2 (612035), ABCB7 (300135), ABCC8 (600509), ABCD1 (300371), ABHD5 (604780), ACO2 (100850), ADCK3 (606980), ADSL (608222), AFG3L2 (604581), AHI1 (608894), ALDH5A1 (610045), ALG6 (604566), AMACR (NA), ANO10 (613728), AP3B2 (602166), AP3D1 (607246), APOPT1 (616003), APTX (606350), ARCN1 (600820), ARL13B (608922), ARL6 (608845), ARSA (607574), ASL (608310), ASS1 (603470), ATM (607585), ATN1 (607462), ATP1A2 (182340), ATP1A3 (182350), ATP8A2 (605870), ATPAF2 (608918), ATXN1 (601556), ATXN10 (603516), ATXN2 (601517), ATXN3 (607047), ATXN7 (607640), AUH (600529), B9D1 (614144), BBS1 (209901), BBS10 (610148), BBS12 (610683), BBS2 (606151), BBS4 (600374), BBS5 (603650), BBS7 (607590), BBS9 (607968), BCKDHA (608348), BCKDHB (248611), BCS1L (603647), BEAN1 (612051), BOLA3 (613183), BSCL2 (606158), BTD (609019), C10ORF2 (606075), C12orf65 (613541), C19orf12 (614298), C5ORF42 (614571), CA8 (114815), CACNA1A (601011), CACNA1G (604065), CACNB4 (601949), CAMTA1 (611501), CASK (300172), CC2D2A (612013), CCDC28B (610162), CCDC88C (611204), CECR1 (607575), CEP290 (610142), TSGA14 (610523), CHCHD10 (615903), CIT (605629), CLCN2 (600570), CLN5 (608102), CLN6 (606725), CLN8 (607837), CLPP (601119), COG4 (606976), COQ2 (609825), COX10 (602125), C12ORF62 (614478), COX15 (603646), FAM36A (614698), COX6B1 (124089), COX8A (123870), CP (117700), CPS1 (608307), CSPP1 (611654), CSTB (601145), CTDP1 (604927), CTSD (116840), CTSF (603539), CYP27A1 (606530), DARS2 (610956), DBT (248610), DCPS (610534), DCX (300121), DHFR (126060), DKC1 (300126), DLAT (608770), DLD (238331), DNAJC12 (606060), DNAJC19 (608977), DNAJC3 (601184), DNAJC5 (611203), DNMT1 (126375), DPM1 (603503), DYRK1A (600855), EEF2 (130610), EGR2 (129010), ELOVL4 (605512), ELOVL5 (611805), ERCC2 (126340), ERCC5 (133530), ERCC6 (133540), ERCC8 (609412), ETHE1 (608451), FA2H (611026), FASTKD2 (612322), FBXL4 (605654), FGF12 (601513), FGF14 (601515), FLVCR1 (609144), FMR1 (309550), FOXRED1 (613622), C9ORF4 (604574), FTL (134790), FXN (606829), GABRB3 (137192), GAMT (601240), GBA (606463), GBA2 (609471), GCH1 (600225), GFAP (137780), GJA1 (600309), GJB1 (304040), GJC2 (608803), GLB1 (611458), GMPPB (615320), GOSR2 (604027), GPI (172400), GPR56 (604110), GRID2 (602368), GRM1 (614831), GRN (138945), GSS (601002), HARS (142810), HARS2 (600783), HCN1 (602780), HEPACAM (611642), HEXB (606873), HNRNPH2 (300610), HTR1A (109760), HTRA1 (602194), HTT (613004), INPP5E (613037), ITM2B (603904), ITPR1 (147265), KCNA1 (176260), KCNC1 (176258), KCNC3 (176264), KCND3 (605411), KCTD7 (611725), KIF1A (601255), KIF1B (605995), KIF1C (603060), KIF5A (602821), KIF7 (611254), LARP7 (612026), LARS2 (604544), LMNB1 (150340), LRPPRC (607544), LYRM7 (615831), MAN2B1 (609458), MARS2 (609728), MBD5 (611472), MECP2 (300005), MED13L (608771), MFSD2A (614397), MFSD8 (611124), MICU1 (605084), MKKS (604896), MKS1 (609883), MLC1 (605908), MMADHC (611935), MME (120520), MPV17 (137960), MPZ (159440), MRE11A (NA), MTFMT (611766), MTPAP (613669), MTTP (157147), MVK (251170), NAGLU (609701), NANS (605202), 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), NDUFB3 (603839), NDUFB9 (601445), NDUFS1 (157655), NDUFS2 (602985), NDUFS3 (603846), NDUFS4 (602694), NDUFS6 (603848), NDUFS7 (601825), NDUFS8 (602141), NDUFV1 (161015), NDUFV2 (600532), NEU1 (608272), NF2 (607379), NFIA (600727), NOL3 (605235), NOP56 (614154), NPC1 (607623), NPC2 (601015), NPHP1 (607100), NUBPL (613621), OFD1 (300170), OPA1 (605290), OPA3 (606580), OPHN1 (300127), OTC (300461), PANK2 (606157), PAX6 (607108), PDHA1 (300502), PDHX (608769), PDYN (131340), PEX10 (602859), PEX2 (266510), PEX7 (601757), PGK1 (311800), PGM3 (172100), PHYH (602026), PLA2G6 (603604), PLP1 (300401), PMM2 (601785), PMP22 (601097), PNKD (609023), PNKP (605610), PNPLA6 (603197), POLG (174763), POLR3A (614258), POLR3B (614366), PPP2R2B (604325), PPT1 (600722), PRICKLE1 (608500), PRICKLE2 (608501), PRKCG (176980), PRNP (176640), PRPS1 (311850), PRRT2 (614386), PRX (605725), PSEN1 (104311), PTS (612719), PYROXD1 (617220), RARS (107820), RFT1 (611908), RNASEH1 (604123), ROGDI (614574), RORA (600825), RPGRIP1L (610937), RRM2B (604712), SACS (604490), SAMD9L (611170), SATB2 (608148), SCAF4 (616023), SCAF8 (616024), SCARB2 (254900), SCN1A (182389), SCN8A (600702), SCN9A (603415), SCO1 (603644), SDHA (600857), SDHAF1 (612848), SDHD (602690), SETX (608465), SIL1 (608005), SLC13A5 (608305), SLC16A2 (300095), SLC17A5 (604322), SLC19A2 (603941), SLC19A3 (606152), SLC1A3 (600111), SLC20A2 (158378), SLC2A1 (138140), SLC30A10 (611146), SLC39A14 (608736), SLC46A1 (611672), GPR172A (607882), C20ORF54 (613350), SLC6A1 (137165), SLC9A6 (300231), SMAD4 (600993), SNAP25 (600322), SNORD118 (616663), SOX10 (602229), SPG11 (610844), SPG7 (602783), SPR (182125), SPTBN2 (604985), SUMF1 (607939), SUOX (606887), SURF1 (185620), SYNE1 (608441), SYT14 (614229), TACO1 (612958), TBC1D24 (613577), TBP (600075), TCN2 (613441), TCTN1 (609863), TCTN2 (613846), TCTN3 (613847), TDP1 (607250), TELO2 (611140), TGM6 (613900), TH (191290), TMEM138 (614459), TMEM216 (613277), TMEM231 (614949), TMEM237 (614423), C1ORF70 (HGNC:25186), TMEM67 (609884), TMEM70 (612418), TPK1 (606370), TPP1 (607998), TRIM32 (602290), TRNT1 (612907), TSFM (604723), TTBK2 (611695), TTC19 (613814), TTC8 (608132), TTR (176300), TUBA1A (602529), TUBB (191130), TUBB4 (602662), UBA5 (610552), UBE3A (601623), UCHL1 (191342), UQCRQ (612080), VAC14 (604632), VAMP1 (185880), VARS2 (612802), VLDLR (192977), VRK1 (602168), WDPCP (613580), WDR81 (614218), WFS1 (222300), WWOX (605131), XPA (611153), ZFYVE26 (612012), ZNF423 (604557), ZNF592 (606937).


    Ataksi / Epizodik Ataksi Bozuklukları (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 362 Gen + mtDNA + SCA Tekrar Sayısı Analizi)

    AAAS (605378), AARS2 (612035), ABCB7 (300135), ABCC8 (600509), ABCD1 (300371), ABHD5 (604780), ACO2 (100850), ADCK3 (606980), ADSL (608222), AFG3L2 (604581), AHI1 (608894), ALDH5A1 (610045), ALG6 (604566), AMACR (604489), ANO10 (613726), AP3B2 (602166), AP3D1 (607246), APOPT1 (616003), APTX (606350), ARCN1 (600820), ARL13B (608922), ARL6 (608845), ARSA (607574), ASL (608310), ASS1 (603470), ATM (607585), ATN1 (607462), ATP1A2 (182340), ATP1A3 (182350), ATP8A2 (605870), ATPAF2 (608918), ATXN1 (601556), ATXN10 (611150), ATXN2 (601517), ATXN3 (607047), ATXN7 (607640), AUH (600529), B9D1 (614144), BBS1 (209901), BBS10 (610148), BBS12 (610683), BBS2 (606151), BBS4 (600374), BBS5 (603650), BBS7 (607590), BBS9 (607968), BCKDHA (608348), BCKDHB (248611), BCS1L (603647), BEAN1 (612051), BOLA3 (613183), BSCL2 (606158), BTD (609019), C10ORF2 (606075), C12orf65 (613541), C19orf12 (614297), C5ORF42 (614571), CA8 (114815), CACNA1A (601011), CACNA1G (604065), CACNB4 (601949), CAMTA1 (611501), CASK (300172), CC2D2A (612013), CCDC28B (610162), CCDC88C (611204), CECR1 (607575), CEP290 (610142), TSGA14 (610523), CHCHD10 (615903), CIT (605629), CLCN2 (600570), CLN5 (608102), CLN6 (606725), CLN8 (607837), CLPP (601119), COG4 (606976), COQ2 (609825), COX10 (602125), C12ORF62 (614478), COX15 (603646), FAM36A (614698), COX6B1 (124089), COX8A (123870), CP (117700), CPS1 (608307), CSPP1 (611654), CSTB (601145), CTDP1 (604927), CTSD (116840), CTSF (603539), CYP27A1 (606530), DARS2 (610956), DBT (248610), DCPS (610534), DCX (300121), DHFR (126060), DKC1 (300126), DLAT (608770), DLD (238331), DNAJC12 (606060), DNAJC19 (608977), DNAJC3 (601184), DNAJC5 (611203), DNMT1 (126375), DPM1 (603503), DYRK1A (600855), EEF2 (130610), EGR2 (129010), ELOVL4 (605512), ELOVL5 (611805), ERCC2 (126340), ERCC5 (133530), ERCC6 (609413), ERCC8 (609412), ETHE1 (608451), FA2H (611026), FASTKD2 (612322), FBXL4 (605654), FGF12 (601513), FGF14 (601515), FLVCR1 (609144), FMR1 (309550), FOXRED1 (613622), C9ORF4 (604574), FTL (134790), FXN (606829), GABRB3 (137192), GAMT (601240), GBA (606463), GBA2 (609471), GCH1 (600225), GFAP (137780), GJA1 (121014), GJB1 (304040), GJC2 (608803), GLB1 (611458), GMPPB (615320), GOSR2 (604027), GPI (172400), GPR56 (604110), GRID2 (602368), GRM1 (604473), GRN (138945), GSS (601002), HARS (142810), HARS2 (600783), HCN1 (602780), HEPACAM (611642), HEXB (606873), HNRNPH2 (300610), HTR1A (109760), HTRA1 (602194), HTT (613004), INPP5E (613037), ITM2B (603904), ITPR1 (147265), KCNA1 (176260), KCNC1 (176258), KCNC3 (176264), KCND3 (605411), KCTD7 (611725), KIF1A (601255), KIF1B (605995), KIF1C (603060), KIF5A (602821), KIF7 (611254), LARP7 (612026), LARS2 (604544), LMNB1 (150340), LRPPRC (607544), LYRM7 (615831), MAN2B1 (609458), MARS2 (609728), MBD5 (611472), MECP2 (300005), MED13L (608771), MFSD2A (614397), MFSD8 (611124), MICU1 (605084), MKKS (604896), MKS1 (609883), MLC1 (605908), MMADHC (611935), MME (120520), MPV17 (137960), MPZ (159440), MRE11A (600814), MTFMT (611766), MTPAP (613669), MTTP (157147), MVK (251170), NAGLU (609701), NANS (605202), 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), NDUFB3 (603839), NDUFB9 (601445), NDUFS1 (157655), NDUFS2 (602985), NDUFS3 (603846), NDUFS4 (602694), NDUFS6 (603848), NDUFS7 (601825), NDUFS8 (602141), NDUFV1 (161015), NDUFV2 (600532), NEU1 (608272), NF2 (607379), NFIA (600727), NOL3 (605235), NOP56 (614154), NPC1 (607623), NPC2 (601015), NPHP1 (607100), NUBPL (613621), OFD1 (300170), OPA1 (605290), OPA3 (606580), OPHN1 (300127), OTC (300461), PANK2 (606157), PAX6 (607108), PDHA1 (300502), PDHX (608769), PDYN (131340), PEX10 (602859), PEX2 (170993), PEX7 (601757), PGK1 (311800), PGM3 (172100), PHYH (602026), PLA2G6 (603604), PLP1 (300401), PMM2 (601785), PMP22 (601097), PNKD (609023), PNKP (605610), PNPLA6 (603197), POLG (174763), POLR3A (614258), POLR3B (614366), PPP2R2B (604325), PPT1 (600722), PRICKLE1 (608500), PRICKLE2 (608501), PRKCG (176980), PRNP (176640), PRPS1 (311850), PRRT2 (614386), PRX (605725), PSEN1 (104311), PTS (612719), PYROXD1 (617220), RARS (107820), RFT1 (611908), RNASEH1 (604123), ROGDI (614574), RORA (600825), RPGRIP1L (610937), RRM2B (604712), SACS (604490), SAMD9L (611170), SATB2 (608148), SCAF4 (616023), SCAF8 (616024), SCARB2 (602257), SCN1A (182389), SCN8A (600702), SCN9A (603415), SCO1 (603644), SDHA (600857), SDHAF1 (612848), SDHD (602690), SETX (608465), SIL1 (608005), SLC13A5 (608305), SLC16A2 (300095), SLC17A5 (604322), SLC19A2 (603941), SLC19A3 (606152), SLC1A3 (600111), SLC20A2 (158378), SLC2A1 (138140), SLC30A10 (611146), SLC39A14 (608736), SLC46A1 (611672), GPR172A (607882), C20ORF54 (613350), SLC6A1 (137165), SLC9A6 (300231), SMAD4 (600993), SNAP25 (600322), SNORD118 (616663), SOX10 (602229), SPG11 (610844), SPG7 (602783), SPR (182125), SPTBN2 (604985), SUMF1 (607939), SUOX (606887), SURF1 (185620), SYNE1 (608441), SYT14 (610949), TACO1 (612958), TBC1D24 (613577), TBP (600075), TCN2 (613441), TCTN1 (609863), TCTN2 (613846), TCTN3 (613847), TDP1 (607198), TELO2 (611140), TGM6 (613900), TH (191290), TMEM138 (614459), TMEM216 (613277), TMEM231 (614949), TMEM237 (614423), C1ORF70 (616101), TMEM67 (609884), TMEM70 (612418), TPK1 (606370), TPP1 (607998), TRIM32 (602290), TRNT1 (612907), TSFM (604723), TTBK2 (611695), TTC19 (613814), TTC8 (608132), TTR (176300), TUBA1A (602529), TUBB (191130), TUBB4 (602662), UBA5 (610552), UBE3A (601623), UCHL1 (191342), UQCRQ (612080), VAC14 (604632), VAMP1 (185880), VARS2 (612802), VLDLR (192977), VRK1 (602168), WDPCP (613580), WDR81 (614218), WFS1 (606201), WWOX (605131), XPA (611153), ZFYVE26 (612012), ZNF423 (604557), ZNF592 (613624).


    Ataksi / Epizodik Ataksi Bozuklukları (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 362 Gen + mtDNA + SCA & HTT Tekrar Sayısı Analizi

    AAAS (605378), AARS2 (612035), ABCB7 (300135), ABCC8 (600509), ABCD1 (300371), ABHD5 (604780), ACO2 (100850), ADCK3 (606980), ADSL (608222), AFG3L2 (604581), AHI1 (608894), ALDH5A1 (610045), ALG6 (604566), AMACR (604489), ANO10 (613726), AP3B2 (602166), AP3D1 (607246), APOPT1 (616003), APTX (606350), ARCN1 (600820), ARL13B (608922), ARL6 (608845), ARSA (607574), ASL (608310), ASS1 (603470), ATM (607585), ATN1 (607462), ATP1A2 (182340), ATP1A3 (182350), ATP8A2 (605870), ATPAF2 (608918), ATXN1 (601556), ATXN10 (611150), ATXN2 (601517), ATXN3 (607047), ATXN7 (607640), AUH (600529), B9D1 (614144), BBS1 (209901), BBS10 (610148), BBS12 (610683), BBS2 (606151), BBS4 (600374), BBS5 (603650), BBS7 (607590), BBS9 (607968), BCKDHA (608348), BCKDHB (248611), BCS1L (603647), BEAN1 (612051), BOLA3 (613183), BSCL2 (606158), BTD (609019), C10ORF2 (606075), C12orf65 (613541), C19orf12 (614297), C5ORF42 (614571), CA8 (114815), CACNA1A (601011), CACNA1G (604065), CACNB4 (601949), CAMTA1 (611501), CASK (300172), CC2D2A (612013), CCDC28B (610162), CCDC88C (611204), CECR1 (607575), CEP290 (610142), TSGA14 (610523), CHCHD10 (615903), CIT (605629), CLCN2 (600570), CLN5 (608102), CLN6 (606725), CLN8 (607837), CLPP (601119), COG4 (606976), COQ2 (609825), COX10 (602125), C12ORF62 (614478), COX15 (603646), FAM36A (614698), COX6B1 (124089), COX8A (123870), CP (117700), CPS1 (608307), CSPP1 (611654), CSTB (601145), CTDP1 (604927), CTSD (116840), CTSF (603539), CYP27A1 (606530), DARS2 (610956), DBT (248610), DCPS (610534), DCX (300121), DHFR (126060), DKC1 (300126), DLAT (608770), DLD (238331), DNAJC12 (606060), DNAJC19 (608977), DNAJC3 (601184), DNAJC5 (611203), DNMT1 (126375), DPM1 (603503), DYRK1A (600855), EEF2 (130610), EGR2 (129010), ELOVL4 (605512), ELOVL5 (611805), ERCC2 (126340), ERCC5 (133530), ERCC6 (609413), ERCC8 (609412), ETHE1 (608451), FA2H (611026), FASTKD2 (612322), FBXL4 (605654), FGF12 (601513), FGF14 (601515), FLVCR1 (609144), FMR1 (309550), FOXRED1 (613622), C9ORF4 (604574), FTL (134790), FXN (606829), GABRB3 (137192), GAMT (601240), GBA (606463), GBA2 (609471), GCH1 (600225), GFAP (137780), GJA1 (121014), GJB1 (304040), GJC2 (608803), GLB1 (611458), GMPPB (615320), GOSR2 (604027), GPI (172400), GPR56 (604110), GRID2 (602368), GRM1 (604473), GRN (138945), GSS (601002), HARS (142810), HARS2 (600783), HCN1 (602780), HEPACAM (611642), HEXB (606873), HNRNPH2 (300610), HTR1A (109760), HTRA1 (602194), HTT (613004), INPP5E (613037), ITM2B (603904), ITPR1 (147265), KCNA1 (176260), KCNC1 (176258), KCNC3 (176264), KCND3 (605411), KCTD7 (611725), KIF1A (601255), KIF1B (605995), KIF1C (603060), KIF5A (602821), KIF7 (611254), LARP7 (612026), LARS2 (604544), LMNB1 (150340), LRPPRC (607544), LYRM7 (615831), MAN2B1 (609458), MARS2 (609728), MBD5 (611472), MECP2 (300005), MED13L (608771), MFSD2A (614397), MFSD8 (611124), MICU1 (605084), MKKS (604896), MKS1 (609883), MLC1 (605908), MMADHC (611935), MME (120520), MPV17 (137960), MPZ (159440), MRE11A (600814), MTFMT (611766), MTPAP (613669), MTTP (157147), MVK (251170), NAGLU (609701), NANS (605202), 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), NDUFB3 (603839), NDUFB9 (601445), NDUFS1 (157655), NDUFS2 (602985), NDUFS3 (603846), NDUFS4 (602694), NDUFS6 (603848), NDUFS7 (601825), NDUFS8 (602141), NDUFV1 (161015), NDUFV2 (600532), NEU1 (608272), NF2 (607379), NFIA (600727), NOL3 (605235), NOP56 (614154), NPC1 (607623), NPC2 (601015), NPHP1 (607100), NUBPL (613621), OFD1 (300170), OPA1 (605290), OPA3 (606580), OPHN1 (300127), OTC (300461), PANK2 (606157), PAX6 (607108), PDHA1 (300502), PDHX (608769), PDYN (131340), PEX10 (602859), PEX2 (170993), PEX7 (601757), PGK1 (311800), PGM3 (172100), PHYH (602026), PLA2G6 (603604), PLP1 (300401), PMM2 (601785), PMP22 (601097), PNKD (609023), PNKP (605610), PNPLA6 (603197), POLG (174763), POLR3A (614258), POLR3B (614366), PPP2R2B (604325), PPT1 (600722), PRICKLE1 (608500), PRICKLE2 (608501), PRKCG (176980), PRNP (176640), PRPS1 (311850), PRRT2 (614386), PRX (605725), PSEN1 (104311), PTS (612719), PYROXD1 (617220), RARS (107820), RFT1 (611908), RNASEH1 (604123), ROGDI (614574), RORA (600825), RPGRIP1L (610937), RRM2B (604712), SACS (604490), SAMD9L (611170), SATB2 (608148), SCAF4 (616023), SCAF8 (616024), SCARB2 (602257), SCN1A (182389), SCN8A (600702), SCN9A (603415), SCO1 (603644), SDHA (600857), SDHAF1 (612848), SDHD (602690), SETX (608465), SIL1 (608005), SLC13A5 (608305), SLC16A2 (300095), SLC17A5 (604322), SLC19A2 (603941), SLC19A3 (606152), SLC1A3 (600111), SLC20A2 (158378), SLC2A1 (138140), SLC30A10 (611146), SLC39A14 (608736), SLC46A1 (611672), GPR172A (607882), C20ORF54 (613350), SLC6A1 (137165), SLC9A6 (300231), SMAD4 (600993), SNAP25 (600322), SNORD118 (616663), SOX10 (602229), SPG11 (610844), SPG7 (602783), SPR (182125), SPTBN2 (604985), SUMF1 (607939), SUOX (606887), SURF1 (185620), SYNE1 (608441), SYT14 (610949), TACO1 (612958), TBC1D24 (613577), TBP (600075), TCN2 (613441), TCTN1 (609863), TCTN2 (613846), TCTN3 (613847), TDP1 (607198), TELO2 (611140), TGM6 (613900), TH (191290), TMEM138 (614459), TMEM216 (613277), TMEM231 (614949), TMEM237 (614423), C1ORF70 (616101), TMEM67 (609884), TMEM70 (612418), TPK1 (606370), TPP1 (607998), TRIM32 (602290), TRNT1 (612907), TSFM (604723), TTBK2 (611695), TTC19 (613814), TTC8 (608132), TTR (176300), TUBA1A (602529), TUBB (191130), TUBB4 (602662), UBA5 (610552), UBE3A (601623), UCHL1 (191342), UQCRQ (612080), VAC14 (604632), VAMP1 (185880), VARS2 (612802), VLDLR (192977), VRK1 (602168), WDPCP (613580), WDR81 (614218), WFS1 (606201), WWOX (605131), XPA (611153), ZFYVE26 (612012), ZNF423 (604557), ZNF592 (613624).


    Ataksi / Epizodik Ataksi Bozuklukları (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 362 Gen + mtDNA + SCA & FRDA Tekrar Sayısı Analiz

    AAAS (605378), AARS2 (612035), ABCB7 (300135), ABCC8 (600509), ABCD1 (300371), ABHD5 (604780), ACO2 (100850), ADCK3 (606980), ADSL (608222), AFG3L2 (604581), AHI1 (608894), ALDH5A1 (610045), ALG6 (604566), AMACR (604489), ANO10 (613726), AP3B2 (602166), AP3D1 (607246), APOPT1 (616003), APTX (606350), ARCN1 (600820), ARL13B (608922), ARL6 (608845), ARSA (607574), ASL (608310), ASS1 (603470), ATM (607585), ATN1 (607462), ATP1A2 (182340), ATP1A3 (182350), ATP8A2 (605870), ATPAF2 (608918), ATXN1 (601556), ATXN10 (611150), ATXN2 (601517), ATXN3 (607047), ATXN7 (607640), AUH (600529), B9D1 (614144), BBS1 (209901), BBS10 (610148), BBS12 (610683), BBS2 (606151), BBS4 (600374), BBS5 (603650), BBS7 (607590), BBS9 (607968), BCKDHA (608348), BCKDHB (248611), BCS1L (603647), BEAN1 (612051), BOLA3 (613183), BSCL2 (606158), BTD (609019), C10ORF2 (606075), C12orf65 (613541), C19orf12 (614297), C5ORF42 (614571), CA8 (114815), CACNA1A (601011), CACNA1G (604065), CACNB4 (601949), CAMTA1 (611501), CASK (300172), CC2D2A (612013), CCDC28B (610162), CCDC88C (611204), CECR1 (607575), CEP290 (610142), TSGA14 (610523), CHCHD10 (615903), CIT (605629), CLCN2 (600570), CLN5 (608102), CLN6 (606725), CLN8 (607837), CLPP (601119), COG4 (606976), COQ2 (609825), COX10 (602125), C12ORF62 (614478), COX15 (603646), FAM36A (614698), COX6B1 (124089), COX8A (123870), CP (117700), CPS1 (608307), CSPP1 (611654), CSTB (601145), CTDP1 (604927), CTSD (116840), CTSF (603539), CYP27A1 (606530), DARS2 (610956), DBT (248610), DCPS (610534), DCX (300121), DHFR (126060), DKC1 (300126), DLAT (608770), DLD (238331), DNAJC12 (606060), DNAJC19 (608977), DNAJC3 (601184), DNAJC5 (611203), DNMT1 (126375), DPM1 (603503), DYRK1A (600855), EEF2 (130610), EGR2 (129010), ELOVL4 (605512), ELOVL5 (611805), ERCC2 (126340), ERCC5 (133530), ERCC6 (609413), ERCC8 (609412), ETHE1 (608451), FA2H (611026), FASTKD2 (612322), FBXL4 (605654), FGF12 (601513), FGF14 (601515), FLVCR1 (609144), FMR1 (309550), FOXRED1 (613622), C9ORF4 (604574), FTL (134790), FXN (606829), GABRB3 (137192), GAMT (601240), GBA (606463), GBA2 (609471), GCH1 (600225), GFAP (137780), GJA1 (121014), GJB1 (304040), GJC2 (608803), GLB1 (611458), GMPPB (615320), GOSR2 (604027), GPI (172400), GPR56 (604110), GRID2 (602368), GRM1 (604473), GRN (138945), GSS (601002), HARS (142810), HARS2 (600783), HCN1 (602780), HEPACAM (611642), HEXB (606873), HNRNPH2 (300610), HTR1A (109760), HTRA1 (602194), HTT (613004), INPP5E (613037), ITM2B (603904), ITPR1 (147265), KCNA1 (176260), KCNC1 (176258), KCNC3 (176264), KCND3 (605411), KCTD7 (611725), KIF1A (601255), KIF1B (605995), KIF1C (603060), KIF5A (602821), KIF7 (611254), LARP7 (612026), LARS2 (604544), LMNB1 (150340), LRPPRC (607544), LYRM7 (615831), MAN2B1 (609458), MARS2 (609728), MBD5 (611472), MECP2 (300005), MED13L (608771), MFSD2A (614397), MFSD8 (611124), MICU1 (605084), MKKS (604896), MKS1 (609883), MLC1 (605908), MMADHC (611935), MME (120520), MPV17 (137960), MPZ (159440), MRE11A (600814), MTFMT (611766), MTPAP (613669), MTTP (157147), MVK (251170), NAGLU (609701), NANS (605202), 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), NDUFB3 (603839), NDUFB9 (601445), NDUFS1 (157655), NDUFS2 (602985), NDUFS3 (603846), NDUFS4 (602694), NDUFS6 (603848), NDUFS7 (601825), NDUFS8 (602141), NDUFV1 (161015), NDUFV2 (600532), NEU1 (608272), NF2 (607379), NFIA (600727), NOL3 (605235), NOP56 (614154), NPC1 (607623), NPC2 (601015), NPHP1 (607100), NUBPL (613621), OFD1 (300170), OPA1 (605290), OPA3 (606580), OPHN1 (300127), OTC (300461), PANK2 (606157), PAX6 (607108), PDHA1 (300502), PDHX (608769), PDYN (131340), PEX10 (602859), PEX2 (170993), PEX7 (601757), PGK1 (311800), PGM3 (172100), PHYH (602026), PLA2G6 (603604), PLP1 (300401), PMM2 (601785), PMP22 (601097), PNKD (609023), PNKP (605610), PNPLA6 (603197), POLG (174763), POLR3A (614258), POLR3B (614366), PPP2R2B (604325), PPT1 (600722), PRICKLE1 (608500), PRICKLE2 (608501), PRKCG (176980), PRNP (176640), PRPS1 (311850), PRRT2 (614386), PRX (605725), PSEN1 (104311), PTS (612719), PYROXD1 (617220), RARS (107820), RFT1 (611908), RNASEH1 (604123), ROGDI (614574), RORA (600825), RPGRIP1L (610937), RRM2B (604712), SACS (604490), SAMD9L (611170), SATB2 (608148), SCAF4 (616023), SCAF8 (616024), SCARB2 (602257), SCN1A (182389), SCN8A (600702), SCN9A (603415), SCO1 (603644), SDHA (600857), SDHAF1 (612848), SDHD (602690), SETX (608465), SIL1 (608005), SLC13A5 (608305), SLC16A2 (300095), SLC17A5 (604322), SLC19A2 (603941), SLC19A3 (606152), SLC1A3 (600111), SLC20A2 (158378), SLC2A1 (138140), SLC30A10 (611146), SLC39A14 (608736), SLC46A1 (611672), GPR172A (607882), C20ORF54 (613350), SLC6A1 (137165), SLC9A6 (300231), SMAD4 (600993), SNAP25 (600322), SNORD118 (616663), SOX10 (602229), SPG11 (610844), SPG7 (602783), SPR (182125), SPTBN2 (604985), SUMF1 (607939), SUOX (606887), SURF1 (185620), SYNE1 (608441), SYT14 (610949), TACO1 (612958), TBC1D24 (613577), TBP (600075), TCN2 (613441), TCTN1 (609863), TCTN2 (613846), TCTN3 (613847), TDP1 (607198), TELO2 (611140), TGM6 (613900), TH (191290), TMEM138 (614459), TMEM216 (613277), TMEM231 (614949), TMEM237 (614423), C1ORF70 (616101), TMEM67 (609884), TMEM70 (612418), TPK1 (606370), TPP1 (607998), TRIM32 (602290), TRNT1 (612907), TSFM (604723), TTBK2 (611695), TTC19 (613814), TTC8 (608132), TTR (176300), TUBA1A (602529), TUBB (191130), TUBB4 (602662), UBA5 (610552), UBE3A (601623), UCHL1 (191342), UQCRQ (612080), VAC14 (604632), VAMP1 (185880), VARS2 (612802), VLDLR (192977), VRK1 (602168), WDPCP (613580), WDR81 (614218), WFS1 (606201), WWOX (605131), XPA (611153), ZFYVE26 (612012), ZNF423 (604557), ZNF592 (613624).


    Ataksi / Epizodik Ataksi Bozuklukları (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 362 Gen + mtDNA + HTT Tekrar Sayısı Analizi)

    AAAS (605378), AARS2 (612035), ABCB7 (300135), ABCC8 (600509), ABCD1 (300371), ABHD5 (604780), ACO2 (100850), ADCK3 (606980), ADSL (608222), AFG3L2 (604581), AHI1 (608894), ALDH5A1 (610045), ALG6 (604566), AMACR (604489), ANO10 (613726), AP3B2 (602166), AP3D1 (607246), APOPT1 (616003), APTX (606350), ARCN1 (600820), ARL13B (608922), ARL6 (608845), ARSA (607574), ASL (608310), ASS1 (603470), ATM (607585), ATN1 (607462), ATP1A2 (182340), ATP1A3 (182350), ATP8A2 (605870), ATPAF2 (608918), ATXN1 (601556), ATXN10 (611150), ATXN2 (601517), ATXN3 (607047), ATXN7 (607640), AUH (600529), B9D1 (614144), BBS1 (209901), BBS10 (610148), BBS12 (610683), BBS2 (606151), BBS4 (600374), BBS5 (603650), BBS7 (607590), BBS9 (607968), BCKDHA (608348), BCKDHB (248611), BCS1L (603647), BEAN1 (612051), BOLA3 (613183), BSCL2 (606158), BTD (609019), C10ORF2 (606075), C12orf65 (613541), C19orf12 (614297), C5ORF42 (614571), CA8 (114815), CACNA1A (601011), CACNA1G (604065), CACNB4 (601949), CAMTA1 (611501), CASK (300172), CC2D2A (612013), CCDC28B (610162), CCDC88C (611204), CECR1 (607575), CEP290 (610142), TSGA14 (610523), CHCHD10 (615903), CIT (605629), CLCN2 (600570), CLN5 (608102), CLN6 (606725), CLN8 (607837), CLPP (601119), COG4 (606976), COQ2 (609825), COX10 (602125), C12ORF62 (614478), COX15 (603646), FAM36A (614698), COX6B1 (124089), COX8A (123870), CP (117700), CPS1 (608307), CSPP1 (611654), CSTB (601145), CTDP1 (604927), CTSD (116840), CTSF (603539), CYP27A1 (606530), DARS2 (610956), DBT (248610), DCPS (610534), DCX (300121), DHFR (126060), DKC1 (300126), DLAT (608770), DLD (238331), DNAJC12 (606060), DNAJC19 (608977), DNAJC3 (601184), DNAJC5 (611203), DNMT1 (126375), DPM1 (603503), DYRK1A (600855), EEF2 (130610), EGR2 (129010), ELOVL4 (605512), ELOVL5 (611805), ERCC2 (126340), ERCC5 (133530), ERCC6 (609413), ERCC8 (609412), ETHE1 (608451), FA2H (611026), FASTKD2 (612322), FBXL4 (605654), FGF12 (601513), FGF14 (601515), FLVCR1 (609144), FMR1 (309550), FOXRED1 (613622), C9ORF4 (604574), FTL (134790), FXN (606829), GABRB3 (137192), GAMT (601240), GBA (606463), GBA2 (609471), GCH1 (600225), GFAP (137780), GJA1 (121014), GJB1 (304040), GJC2 (608803), GLB1 (611458), GMPPB (615320), GOSR2 (604027), GPI (172400), GPR56 (604110), GRID2 (602368), GRM1 (604473), GRN (138945), GSS (601002), HARS (142810), HARS2 (600783), HCN1 (602780), HEPACAM (611642), HEXB (606873), HNRNPH2 (300610), HTR1A (109760), HTRA1 (602194), HTT (613004), INPP5E (613037), ITM2B (603904), ITPR1 (147265), KCNA1 (176260), KCNC1 (176258), KCNC3 (176264), KCND3 (605411), KCTD7 (611725), KIF1A (601255), KIF1B (605995), KIF1C (603060), KIF5A (602821), KIF7 (611254), LARP7 (612026), LARS2 (604544), LMNB1 (150340), LRPPRC (607544), LYRM7 (615831), MAN2B1 (609458), MARS2 (609728), MBD5 (611472), MECP2 (300005), MED13L (608771), MFSD2A (614397), MFSD8 (611124), MICU1 (605084), MKKS (604896), MKS1 (609883), MLC1 (605908), MMADHC (611935), MME (120520), MPV17 (137960), MPZ (159440), MRE11A (600814), MTFMT (611766), MTPAP (613669), MTTP (157147), MVK (251170), NAGLU (609701), NANS (605202), 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), NDUFB3 (603839), NDUFB9 (601445), NDUFS1 (157655), NDUFS2 (602985), NDUFS3 (603846), NDUFS4 (602694), NDUFS6 (603848), NDUFS7 (601825), NDUFS8 (602141), NDUFV1 (161015), NDUFV2 (600532), NEU1 (608272), NF2 (607379), NFIA (600727), NOL3 (605235), NOP56 (614154), NPC1 (607623), NPC2 (601015), NPHP1 (607100), NUBPL (613621), OFD1 (300170), OPA1 (605290), OPA3 (606580), OPHN1 (300127), OTC (300461), PANK2 (606157), PAX6 (607108), PDHA1 (300502), PDHX (608769), PDYN (131340), PEX10 (602859), PEX2 (170993), PEX7 (601757), PGK1 (311800), PGM3 (172100), PHYH (602026), PLA2G6 (603604), PLP1 (300401), PMM2 (601785), PMP22 (601097), PNKD (609023), PNKP (605610), PNPLA6 (603197), POLG (174763), POLR3A (614258), POLR3B (614366), PPP2R2B (604325), PPT1 (600722), PRICKLE1 (608500), PRICKLE2 (608501), PRKCG (176980), PRNP (176640), PRPS1 (311850), PRRT2 (614386), PRX (605725), PSEN1 (104311), PTS (612719), PYROXD1 (617220), RARS (107820), RFT1 (611908), RNASEH1 (604123), ROGDI (614574), RORA (600825), RPGRIP1L (610937), RRM2B (604712), SACS (604490), SAMD9L (611170), SATB2 (608148), SCAF4 (616023), SCAF8 (616024), SCARB2 (602257), SCN1A (182389), SCN8A (600702), SCN9A (603415), SCO1 (603644), SDHA (600857), SDHAF1 (612848), SDHD (602690), SETX (608465), SIL1 (608005), SLC13A5 (608305), SLC16A2 (300095), SLC17A5 (604322), SLC19A2 (603941), SLC19A3 (606152), SLC1A3 (600111), SLC20A2 (158378), SLC2A1 (138140), SLC30A10 (611146), SLC39A14 (608736), SLC46A1 (611672), GPR172A (607882), C20ORF54 (613350), SLC6A1 (137165), SLC9A6 (300231), SMAD4 (600993), SNAP25 (600322), SNORD118 (616663), SOX10 (602229), SPG11 (610844), SPG7 (602783), SPR (182125), SPTBN2 (604985), SUMF1 (607939), SUOX (606887), SURF1 (185620), SYNE1 (608441), SYT14 (610949), TACO1 (612958), TBC1D24 (613577), TBP (600075), TCN2 (613441), TCTN1 (609863), TCTN2 (613846), TCTN3 (613847), TDP1 (607198), TELO2 (611140), TGM6 (613900), TH (191290), TMEM138 (614459), TMEM216 (613277), TMEM231 (614949), TMEM237 (614423), C1ORF70 (616101), TMEM67 (609884), TMEM70 (612418), TPK1 (606370), TPP1 (607998), TRIM32 (602290), TRNT1 (612907), TSFM (604723), TTBK2 (611695), TTC19 (613814), TTC8 (608132), TTR (176300), TUBA1A (602529), TUBB (191130), TUBB4 (602662), UBA5 (610552), UBE3A (601623), UCHL1 (191342), UQCRQ (612080), VAC14 (604632), VAMP1 (185880), VARS2 (612802), VLDLR (192977), VRK1 (602168), WDPCP (613580), WDR81 (614218), WFS1 (606201), WWOX (605131), XPA (611153), ZFYVE26 (612012), ZNF423 (604557), ZNF592 (613624).


    Ataksi / Epizodik Ataksi Bozuklukları (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 362 Gen + mtDNA + FRDA Tekrar Sayısı Analizi)

    AAAS (605378), AARS2 (612035), ABCB7 (300135), ABCC8 (600509), ABCD1 (300371), ABHD5 (604780), ACO2 (100850), ADCK3 (606980), ADSL (608222), AFG3L2 (604581), AHI1 (608894), ALDH5A1 (610045), ALG6 (604566), AMACR (604489), ANO10 (613726), AP3B2 (602166), AP3D1 (607246), APOPT1 (616003), APTX (606350), ARCN1 (600820), ARL13B (608922), ARL6 (608845), ARSA (607574), ASL (608310), ASS1 (603470), ATM (607585), ATN1 (607462), ATP1A2 (182340), ATP1A3 (182350), ATP8A2 (605870), ATPAF2 (608918), ATXN1 (601556), ATXN10 (611150), ATXN2 (601517), ATXN3 (607047), ATXN7 (607640), AUH (600529), B9D1 (614144), BBS1 (209901), BBS10 (610148), BBS12 (610683), BBS2 (606151), BBS4 (600374), BBS5 (603650), BBS7 (607590), BBS9 (607968), BCKDHA (608348), BCKDHB (248611), BCS1L (603647), BEAN1 (612051), BOLA3 (613183), BSCL2 (606158), BTD (609019), C10ORF2 (606075), C12orf65 (613541), C19orf12 (614297), C5ORF42 (614571), CA8 (114815), CACNA1A (601011), CACNA1G (604065), CACNB4 (601949), CAMTA1 (611501), CASK (300172), CC2D2A (612013), CCDC28B (610162), CCDC88C (611204), CECR1 (607575), CEP290 (610142), TSGA14 (610523), CHCHD10 (615903), CIT (605629), CLCN2 (600570), CLN5 (608102), CLN6 (606725), CLN8 (607837), CLPP (601119), COG4 (606976), COQ2 (609825), COX10 (602125), C12ORF62 (614478), COX15 (603646), FAM36A (614698), COX6B1 (124089), COX8A (123870), CP (117700), CPS1 (608307), CSPP1 (611654), CSTB (601145), CTDP1 (604927), CTSD (116840), CTSF (603539), CYP27A1 (606530), DARS2 (610956), DBT (248610), DCPS (610534), DCX (300121), DHFR (126060), DKC1 (300126), DLAT (608770), DLD (238331), DNAJC12 (606060), DNAJC19 (608977), DNAJC3 (601184), DNAJC5 (611203), DNMT1 (126375), DPM1 (603503), DYRK1A (600855), EEF2 (130610), EGR2 (129010), ELOVL4 (605512), ELOVL5 (611805), ERCC2 (126340), ERCC5 (133530), ERCC6 (609413), ERCC8 (609412), ETHE1 (608451), FA2H (611026), FASTKD2 (612322), FBXL4 (605654), FGF12 (601513), FGF14 (601515), FLVCR1 (609144), FMR1 (309550), FOXRED1 (613622), C9ORF4 (604574), FTL (134790), FXN (606829), GABRB3 (137192), GAMT (601240), GBA (606463), GBA2 (609471), GCH1 (600225), GFAP (137780), GJA1 (121014), GJB1 (304040), GJC2 (608803), GLB1 (611458), GMPPB (615320), GOSR2 (604027), GPI (172400), GPR56 (604110), GRID2 (602368), GRM1 (604473), GRN (138945), GSS (601002), HARS (142810), HARS2 (600783), HCN1 (602780), HEPACAM (611642), HEXB (606873), HNRNPH2 (300610), HTR1A (109760), HTRA1 (602194), HTT (613004), INPP5E (613037), ITM2B (603904), ITPR1 (147265), KCNA1 (176260), KCNC1 (176258), KCNC3 (176264), KCND3 (605411), KCTD7 (611725), KIF1A (601255), KIF1B (605995), KIF1C (603060), KIF5A (602821), KIF7 (611254), LARP7 (612026), LARS2 (604544), LMNB1 (150340), LRPPRC (607544), LYRM7 (615831), MAN2B1 (609458), MARS2 (609728), MBD5 (611472), MECP2 (300005), MED13L (608771), MFSD2A (614397), MFSD8 (611124), MICU1 (605084), MKKS (604896), MKS1 (609883), MLC1 (605908), MMADHC (611935), MME (120520), MPV17 (137960), MPZ (159440), MRE11A (600814), MTFMT (611766), MTPAP (613669), MTTP (157147), MVK (251170), NAGLU (609701), NANS (605202), 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), NDUFB3 (603839), NDUFB9 (601445), NDUFS1 (157655), NDUFS2 (602985), NDUFS3 (603846), NDUFS4 (602694), NDUFS6 (603848), NDUFS7 (601825), NDUFS8 (602141), NDUFV1 (161015), NDUFV2 (600532), NEU1 (608272), NF2 (607379), NFIA (600727), NOL3 (605235), NOP56 (614154), NPC1 (607623), NPC2 (601015), NPHP1 (607100), NUBPL (613621), OFD1 (300170), OPA1 (605290), OPA3 (606580), OPHN1 (300127), OTC (300461), PANK2 (606157), PAX6 (607108), PDHA1 (300502), PDHX (608769), PDYN (131340), PEX10 (602859), PEX2 (170993), PEX7 (601757), PGK1 (311800), PGM3 (172100), PHYH (602026), PLA2G6 (603604), PLP1 (300401), PMM2 (601785), PMP22 (601097), PNKD (609023), PNKP (605610), PNPLA6 (603197), POLG (174763), POLR3A (614258), POLR3B (614366), PPP2R2B (604325), PPT1 (600722), PRICKLE1 (608500), PRICKLE2 (608501), PRKCG (176980), PRNP (176640), PRPS1 (311850), PRRT2 (614386), PRX (605725), PSEN1 (104311), PTS (612719), PYROXD1 (617220), RARS (107820), RFT1 (611908), RNASEH1 (604123), ROGDI (614574), RORA (600825), RPGRIP1L (610937), RRM2B (604712), SACS (604490), SAMD9L (611170), SATB2 (608148), SCAF4 (616023), SCAF8 (616024), SCARB2 (602257), SCN1A (182389), SCN8A (600702), SCN9A (603415), SCO1 (603644), SDHA (600857), SDHAF1 (612848), SDHD (602690), SETX (608465), SIL1 (608005), SLC13A5 (608305), SLC16A2 (300095), SLC17A5 (604322), SLC19A2 (603941), SLC19A3 (606152), SLC1A3 (600111), SLC20A2 (158378), SLC2A1 (138140), SLC30A10 (611146), SLC39A14 (608736), SLC46A1 (611672), GPR172A (607882), C20ORF54 (613350), SLC6A1 (137165), SLC9A6 (300231), SMAD4 (600993), SNAP25 (600322), SNORD118 (616663), SOX10 (602229), SPG11 (610844), SPG7 (602783), SPR (182125), SPTBN2 (604985), SUMF1 (607939), SUOX (606887), SURF1 (185620), SYNE1 (608441), SYT14 (610949), TACO1 (612958), TBC1D24 (613577), TBP (600075), TCN2 (613441), TCTN1 (609863), TCTN2 (613846), TCTN3 (613847), TDP1 (607198), TELO2 (611140), TGM6 (613900), TH (191290), TMEM138 (614459), TMEM216 (613277), TMEM231 (614949), TMEM237 (614423), C1ORF70 (616101), TMEM67 (609884), TMEM70 (612418), TPK1 (606370), TPP1 (607998), TRIM32 (602290), TRNT1 (612907), TSFM (604723), TTBK2 (611695), TTC19 (613814), TTC8 (608132), TTR (176300), TUBA1A (602529), TUBB (191130), TUBB4 (602662), UBA5 (610552), UBE3A (601623), UCHL1 (191342), UQCRQ (612080), VAC14 (604632), VAMP1 (185880), VARS2 (612802), VLDLR (192977), VRK1 (602168), WDPCP (613580), WDR81 (614218), WFS1 (606201), WWOX (605131), XPA (611153), ZFYVE26 (612012), ZNF423 (604557), ZNF592 (613624).


    Aritmojenik Sağ Ventriküler Displazi (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 10 Gen)

    DSC2 (125645), DSG2 (125671), DSP (125647), JUP (173325), PKP2 (602861), PLN (172405), RPSA (150370), RYR2 (180902), TGFB3 (190230), TMEM43 (612048).


    Amyotrofik Lateral Skleroz (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 28 Gen)

    ALS2 (606352), ANG (105850), ATXN2 (601517), C9orf72 (614260), CHCHD10 (615903), CHMP2B (609512), DCTN1 (601143), ERBB4 (600543), FIG4 (609390), FUS (137070), HNRNPA1 (164017), MAPT (157140), MATR3 (164015), NEFH (162230), OPTN (602432), PARK7 (602533), PFN1 (176610), PRPH (170710), PSEN1 (104311), SETX (608465), SIGMAR1 (601978), SOD1 (147450), SPG11 (610844), SQSTM1 (601530), TARDBP (605078), UBQLN2 (300264), VAPB (605704), VCP (601023).


    Amyotrofik Lateral Skleroz (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 28 Gen + C9orf72 Tekrar Sayısı Analizi)

    ALS2 (606352), ANG (105850), ATXN2 (601517), C9orf72 (614260), CHCHD10 (615903), CHMP2B (609512), DCTN1 (601143), ERBB4 (600543), FIG4 (609390), FUS (137070), HNRNPA1 (164017), MAPT (157140), MATR3 (164015), NEFH (162230), OPTN (602432), PARK7 (602533), PFN1 (176610), PRPH (170710), PSEN1 (104311), SETX (608465), SIGMAR1 (601978), SOD1 (147450), SPG11 (610844), SQSTM1 (601530), TARDBP (605078), UBQLN2 (300264), VAPB (605704), VCP (601023).


    Amyloid-Related Disorders (NextGen Sequencing Panel and Copy Number Analysis; 17 Genes)

    APOA1 (107680), APOA2 (107670), APP (104760), B2M (109700), CST3 (604312), FGA (134820), GSN (137350), IL31RA (609510), ITM2B (603904), LYZ (153450), MEFV (608107), NLRP12 (609648), NLRP3 (606416), OSMR (601743), PSEN2 (600759), TNFRSF1A (191190), TTR (176300).


    Alzheimer Hastalığı / Frontotemporal Demans (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 40 Gen)

    A2M (103950), ACE (106180), APOE (107741), APP (104760), BIN1 (601248), C9orf72 (614260), CD2AP (604241), CHCHD10 (615903), CHMP2B (609512), CR1 (120620), CSF1R (164770), CST3 (604312), DNMT1 (126375), FTL (134790), FUS (137070), GBA (606463), GCDH (608801), GRN (138945), HFE (613609), HNRNPA2B1 (600124), HSD17B10 (300256), ITM2B (603904), MAPT (157140), MLYCD (606761), MPO (606989), MS4A2 (147138), NOS3 (163729), PLAU (191840), PRNP (176640), PSEN1 (104311), PSEN2 (600759), SNCA (163890), SNCB (602569), SPG21 (608181), SQSTM1 (601530), TARDBP (605078), TBP (600075), TREM2 (605086), UBQLN2 (300264), VCP (601023).


    Amyotrofik Lateral Skleroz (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 40 Gen + C9orf72 Tekrar Sayısı Analizi)

    A2M (103950), ACE (106180), APOE (107741), APP (104760), BIN1 (601248), C9orf72 (614260), CD2AP (604241), CHCHD10 (615903), CHMP2B (609512), CR1 (120620), CSF1R (164770), CST3 (604312), DNMT1 (126375), FTL (134790), FUS (137070), GBA (606463), GCDH (608801), GRN (138945), HFE (613609), HNRNPA2B1 (600124), HSD17B10 (300256), ITM2B (603904), MAPT (157140), MLYCD (606761), MPO (606989), MS4A2 (147138), NOS3 (163729), PLAU (191840), PRNP (176640), PSEN1 (104311), PSEN2 (600759), SNCA (163890), SNCB (602569), SPG21 (608181), SQSTM1 (601530), TARDBP (605078), TBP (600075), TREM2 (605086), UBQLN2 (300264), VCP (601023).


    Aicardi-Goutieres Sendromu (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 7 Gen)

    ADAR (601059), IFIH1 (606951), RNASEH2A (606034), RNASEH2B (610326), RNASEH2C (610330), SAMHD1 (606754), TREX1 (606609).


    Actionable Epilepsy (NextGen Sequencing Panel and Copy Number Analysis; 70 genes)

    ABCC8 (600509), ACADM (607008), ACSF3 (614245), AKT2 (164731), ALDH7A1 (107323), ALDOB (612724), ARX (300382), ATP1A2 (182340), BCKDHA (608348), BCKDHB (248611), CAD (114010), CBS (613381), CDKL5 (300203), COQ2 (609825), CPT2 (600650), DBT (248610), DHFR (126060), FBP1 (611570), FOLR1 (136430), FTL (134790), GAMT (601240), GATM (602360), GBA (606463), GCH1 (600225), GCK (138079), GLRA1 (138491), GLUD1 (606762), GYS2 (138571), HADH (601609), KCNJ1 (600359), KCNJ11 (600937), KCNQ2 (602235), KCNQ3 (602232), KCNT1 (608167), MECP2 (300005), MEF2C (600662), MMAA (607481), MMACHC (609831), MMADHC (611935), NAGS (608300), PAH (612349), PC (608786), PCDH19 (300460), PDHA1 (300502), PNKD (609023), PNPO (603287), POLG (174763), PROSC (604436), PRRT2 (614386), PTS (612719), QDPR (612676), SCN1A (182389), SCN1B (600235), SCN2A (182390), SCN8A (600702), SCN9A (603415), SLC13A5 (608305), SLC16A1 (600682), SLC19A2 (603941), SLC19A3 (606152), SLC25A20 (613698), SLC2A1 (138140), SLC46A1 (611672), SLC6A8 (300036), SPR (182125), SPTAN1 (182810), STX1B (601485), STXBP1 (602926), TSC1 (605284), TSC2 (191092).


    Akut Miyeloid Lösemi (AML) Paneli

    ETO/AML1 [t(8;21)(q22;q22)], PML/RARA [t(15;17)(q22;q21)], E2A (TCF3) (19p13.3) [t(1;19)], CBFB [t(16p13;1q22), inv(16)], EGR1 (5q31), 7q31, MLL (11q23), P53 (17p13.1)


    Akut Lenfositik Lösemi (ALL) Panel

    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)], IGH/MYC [t(8;14) (q24;q32)], 7q31, Kromozom 10, D13S319 (13q14.3)