• Bardet-Biedl Sendromu (Panel)

    ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CCDC28B, CEP290, IFT27, LZTFL1, MKKS, MKS1, SDCCAG8, TMEM67, TRIM32, TTC8, WDPCP


    Bartter Sendromu (Panel)

    ATP6V1B1, BSND, CA2, CASR, CLCNKA, CLCNKB, CLDN16, CLDN19, FXYD2, HSD11B2, KCNJ1, KCNJ10, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, SLC12A1, SLC12A2, SLC12A3, SLC4A1, SLC4A4, WNK1, WNK4


    Bartter Sendromu (Delesyon&Duplikasyon)

    SLC12A3, CLCNKA, CLCNKB, CASR


    Bethlem Miyopati (Panel)

    COL6A1, COL6A2, COL6A3, COL12A1


    B-Negatif SCID (Panel)

    ADA, AK2, DCLRE1C, LIG4, NHEJ1, RAC2, RAG1, RAG2


    B-Pozitif SCID (Panel)

    CD3D, CD3E, CD247, FOXN1, IL2RG, IL7R, JAK3, ORAI1, PNP, PTPRC, RMRP, STAT5B, STIM1, TBX1, ZAP70


    Beyin Demir Birikimi Sendromları (Panel)

    ATP13A2, C19orf12, COASY, CP, DCAF17, FA2H, FTL, PANK2, PLA2G6, SCP2, WDR45


    Brugada Sendromu (Panel)

    CACNA1C, CACNB2, GPD1L, HCN4, KCNE3, SCN1B, SCN3B, SCN5A, SLMAP


    bunaklık (Panel)

    APOE, APP, CHMP2B, CSF1R, FUS, GRN, MAPT, PRNP, PSEN1, PSEN2, SORL1, TARDBP, TREM2, UBE3A, VCP


    bunaklık (Delesyon&Duplikasyon)

    PSEN1, GRN, APP, MAPT, PSEN2, UBE3A


    Brugada Sendromu (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 12 Gen)

    CACNA1C (114205), CACNB2 (600003), GPD1L (611778), HCN4 (605206), KCND3 (605411), KCNE3 (604433), SCN10A (604427), SCN1B (600235), SCN2B (601327), SCN3B (608214), SCN5A (600163), TRPM4 (606936).


    Basal Ganglia Calcification Dystonia (NextGen Sequencing Panel and Copy Number Analysis; 23 Genes)

    ABCD1 (300371), ADAR (146920), AP1S2 (300629), COX10 (602125), ERCC6 (609413), GJA1 (121014), OCLN (602876), PAH (612349), PDGFB (190040), PDGFRB (173410), PSMB8 (177046), RNASEH2A (606034), RNASEH2B (610326), RNASEH2C (610330), SAMHD1 (606754), SLC20A2 (158378), SLC46A1 (611672), SNORD118 (616663), SUCLA2 (603921), TREM2 (605086), TREX1 (606609), TYROBP (604142), WDR45 (300526).


    Bartter / Gitelman Sendromları (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 8 Gen)

    BSND (606412), CASR (601199), CLCNKA (602024), CLCNKB (602023), HNF1B (189907), KCNJ1 (600359), SLC12A1 (600839), SLC12A3 (600968).


    Böbrek Kanseri Paneli, Hedef Mutasyon

    EPCAM, FH, FLCN, HNF1A, HNF1B, MET, MITF, MLH1, MSH2, MSH6, PMS1, PMS2, PTEN, SDHB, SDHD, TSC1, TSC2, VHL, WT1


    BRCA1, BRCA2 Paneli

    BRCA1, BRCA2