• Hipertrofik Kardiyomiyopati (Panel)

    ACTC1, ACTN2, ANKRD1, CALR3, CAV3, CRYAB, CSRP3, DES, FHL2, FLNC, GLA, JPH2, LAMP2, LDB3, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYPN, NEXN, PDLIM3, PLN, PRKAG2, SLC25A4, SOS1, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, TTN, TTR, VCL


    Hipertrofik Kardiyomiyopati (Delesyon&Duplikasyon)

    MYBPC3, MYH7, SLC25A4, TNNT2, CAV3, GLA


    Hemofagositik Lenfohistiyositoz (Panel)

    PRF1, UNC13D, STX11, STXBP2


    Hermansky-Pudlak Sendromu (Panel)

    HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6, DTNBP1, BLOC1S3


    Heterotaksi (Panel)

    ACVR2B, CFAP53, CFC1, CRELD1, FOXH1, GDF1, LEFTY2, MMP21, NKX2-5, NODAL, ZIC3


    Heterotaksi (Delesyon&Duplikasyon)

    NKX2-5, ACVR2B, ZIC3, CFC1, NODAL


    Hirschsprung Hastalığı (Panel)

    ECE1, EDN3, EDNRB, GDNF, KIF1BP, NRG1, NRTN, RET, SOX10, ZEB2


    Hirschsprung Hastalığı (Delesyon&Duplikasyon)

    SOX10, GDNF, ZEB2, EDN3, EDNRB, NRTN, RET


    Holoprozensefali (Panel)

    CDON, FGF8, GLI2, GLI3, PTCH1, SHH, SIX3, TGIF1, ZIC2


    Holoprozensefali (Delesyon&Duplikasyon)

    SHH, GLI2, PTCH1, SIX3, TGIF1, GLI3, ZIC2


    Hiperekpleksia (Panel)

    ARHGEF9, GLRA1, GLRB, GPHN, SLC6A5


    Hiperinsülinemik Hipoglisemi (Panel)

    ABCC8, GCK, GLUD1, HADH, INSR, KCNJ11, SLC16A1


    Hipomagnezemi (Panel)

    CLDN16, CLDN19, CNNM2, EGF, FXYD2, KCNA1, SLC12A3, TRPM6


    Hipotiroidi (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 6 Gen)

    FOXP3 (NA), NKX2-5 (600584), PAX8 (167415), THRA (190120), TSHB (188540), TSHR (603372).


    Hipokalemik ve Hiperkalemik Periyodik Paralizi Bozuklukları (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 7 Gen)

    AIP (605555), AMMECR1 (300195), CACNA1S (114208), CLCN1 (118425), KCNJ2 (600681), SCN4A (603967), SLC12A3 (600968).


    Hidrosefali (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 69 Gen)

    AKT3 (611223), AP1S2 (300629), ARSB (611542), B3GALNT2 (610194), B3GNT1 (605517), BRAF (164757), CC2D2A (612013), CEP290 (610142), CLIC2 (300138), COL4A1 (120130), DHCR24 (606418), DHCR7 (602858), EBP (300205), ERCC6 (609413), FAM20C (611061), FBN1 (134797), FKRP (606596), FKTN (607440), FLNA (300017), FLVCR2 (610865), GALC (606890), GBA (606463), GFAP (137780), GPC3 (300037), GPSM2 (609245), GUSB (611499), HCCS (300056), HRAS (190020), IDS (300823), IDUA (252800), IFT172 (607386), ISPD (614631), KIAA0196 (610657), L1CAM (308840), LAMB1 (150240), LARGE (603590), MED12 (300188), MKS1 (609883), MMACHC (609831), MPDZ (603785), MTM1 (300415), MUSK (601296), NANS (605202), NF1 (613113), NRAS (164790), OFD1 (300170), PIK3CA (171834), PIK3R2 (603157), POMGNT1 (606822), C3orf39 (614828), SGK196 (615247), POMT1 (607423), POMT2 (607439), PORCN (300651), PTCH1 (601309), PTEN (601728), PYCR1 (179035), RAPSN (601592), RNASEH2A (606034), SKI (164780), SLC17A5 (604322), SUMF1 (607939), TGFBR1 (190181), TGFBR2 (190182), TMEM216 (613277), TMEM237 (614423), TMEM67 (609884), ZIC2 (603073), ZIC3 (300265).


    Heterotaksi Sendromları (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 7 Gen)

    ACVR2B (602730), CCDC11 (614759), CFC1 (605194), CRELD1 (606217), NKX2-5 (600584), NODAL (601265), ZIC3 (300625).


    Hereditary Ventricular Tachycardia Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 28 Genes)

    ACTC1 (102540), CALM1 (114180), CASQ2 (114251), DSC2 (125645), DSG2 (125671), DSP (125647), DTNA (601239), GYG1 (603942), JUP (173325), KCNE1 (176261), KCNE2 (603796), KCNE3 (604433), KCNH2 (152427), LDB3 (605906), MYH7 (160760), NAA10 (300013), PKP2 (602861), PRKAG2 (602743), RPSA (150370), RYR2 (180902), SCN10A (604427), SCN2B (601327), SCN3B (608214), SCN4B (608256), SCN5A (600163), TGFB3 (190230), TMEM43 (612048), TRPM4 (606936).


    Herediter ve Duyusal Otonomik Nöropati (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 117 Gen)

    AARS (601065), ABCD1 (300371), AGXT (604285), ALAD (125270), APTX (606350), AR (313700), ATL1 (606439), ATL3 (609369), ATP13A2 (610513), ATXN3 (607047), B4GALNT1 (601873), BMP2 (112261), C10ORF2 (606075), CACNA1A (601011), CACNA1G (604065), CCT5 (610150), CLCN1 (118425), CLP1 (608757), COQ4 (612898), CTSD (116840), CUBN (602997), CYP7B1 (603711), DDHD1 (614603), DHH (605423), DNAJB2 (604139), DNAJC3 (601184), DNMT1 (126375), DST (113810), FAM134B (613114), FGF14 (601515), FLVCR1 (609144), FOXP1 (605515), GALC (606890), GBE1 (607839), GJC2 (608803), GLA (300644), HADHA (600890), HEXB (606873), HFE (613609), HMBS (609806), HOXB1 (142968), HSD17B4 (601860), HSPD1 (118190), IARS2 (612801), IBA57 (615316), IKBKAP (603722), KCND3 (605411), KIAA0196 (610657), KIF1A (601255), KIF5A (602821), LDHA (150000), LPIN1 (605518), MARS (156560), MPV17 (137960), NAGA (104170), NAGLU (609701), NEFH (162230), NGF (162030), NIPA1 (608145), NLRP12 (609648), NLRP3 (606416), NOD2 (605956), NTRK1 (191315), OPA1 (605290), PEX10 (602859), PEX16 (603360), PEX2 (170993), PEX5 (600414), PGAM2 (612931), PHKA1 (311870), PHYH (602026), PIEZO2 (613629), PIGT (610272), PNKP (605610), PNPLA2 (609059), POLG2 (604983), POLR3A (614258), PQBP1 (300463), PRDM12 (616458), PSMB8 (177046), PYGM (608455), PYROXD1 (617220), RAI1 (607642), REEP2 (609347), RNASEH1 (604123), RTN2 (603183), SAMD9L (611170), SCN10A (604427), SCN11A (604385), SCN4A (603967), SCN9A (603415), SHANK3 (606230), SHROOM4 (300579), SLC12A3 (600968), SLC25A46 (610826), SLC40A1 (604653), GPR172A (607882), SPAST (604277), SPTBN2 (604985), SPTLC1 (605712), SPTLC2 (605713), SQSTM1 (601530), SURF1 (185620), TNFRSF11A (603499), TPP1 (607998), TREM2 (605086), TRPA1 (604775), TSFM (604723), TTR (176300), TUBB3 (602661), TYROBP (604142), UBA5 (610552), UCHL1 (191342), VAMP1 (185880), VLDLR (192977), VPS37A (609927), WNK1 (605232).


    Hereditary Cardiac Arrhythmia (NextGen Sequencing Panel and Copy Number Analysis; 60 Genes)

    ABCC9 (601439), ACTC1 (102540), AKAP9 (604001), ANK2 (106410), CACNA1C (114205), CACNB2 (600003), CALM1 (114180), CASQ2 (114251), CAV3 (601253), CPT1A (600528), CPT2 (600650), DSC2 (125645), DSG2 (125671), DSP (125647), DTNA (601239), EMD (300384), ERCC8 (609412), FLAD1 (610595), GNAI2 (139360), GNB5 (604447), GPC6 (604404), GPD1L (611778), GYG1 (603942), HCN4 (605206), JUP (173325), KCND3 (605411), KCNE1 (176261), KCNE2 (603796), KCNE3 (604433), KCNH2 (152427), KCNJ1 (600359), KCNJ2 (600681), KCNJ5 (600734), KCNQ1 (607542), LDB3 (605906), LMNA (150330), MYH7 (160760), NAA10 (300013), NPPA (108780), PKP2 (602861), PRKAG2 (602743), PTRF (603198), RNASEH1 (604123), RPSA (150370), RYR1 (180901), RYR2 (180902), SCN10A (604427), SCN1B (600235), SCN2B (601327), SCN3B (608214), SCN4B (608256), SCN5A (600163), SLC25A20 (613698), SNTA1 (601017), TBL1X (300196), TECRL (617242), TGFB3 (190230), TLL1 (606742), TMEM43 (612048), TRPM4 (606936).