• Refsum Hastalığı (Panel)

    PEX1, PEX2, PEX26, PEX7, PHYH


    Renal Tübüler Asidoz (Delesyon&Duplikasyon)

    ATP6V0A4, ATP6V1B1, CA2, EHHADH, HNF4A, SLC34A1, SLC4A1, SLC4A4


    Retinitis Pigmentosa, Otozomal Dominant (Delesyon&Duplikasyon)

    ABCA4, BEST1, CA4, CRX, CLRN1, FSCN2, GUCA1B, IMPDH1, KLHL7, NR2E3, NRL, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, RDH12, RGR, RHO, ROM1, RP1, RP2, RP9, RPE65, RPGR, SEMA4A, SNRNP200, TOPORS


    Retinitis Pigmentosa, Otozomal Dominant (Panel + Delesyon&Duplikasyon)

    PRPH2, RPE65, PRPF31, CRX, RPGR, RP2, RDH12, RHO, BEST1, ABCA4, IMPDH1, RP1


    Retinitis Pigmentosa, Otozomal Resesif (Delesyon&Duplikasyon)

    ABCA4, ARL6, BBS1, BEST1, C2ORF71, C8ORF37, CERKL, CNGA1, CNGB1, CRB1, DHDDS, EYS, FAM161A, FLVCR1, GNPTG, IDH3B, IMPG2, LRAT, MAK, MERTK, NR2E3, NRL, PDE6A, PDE6B, PDE6G, PRCD, PROM1, RBP3, RDH12, RGR, RHO, RLBP1, RP1, RP2, RPE65, RPGR, SAG, SEMA4A, SPATA7, TTC8, TULP1, USH2A, ZNF513


    Retinitis Pigmentosa, Otozomal Resesif (Panel + Delesyon&Duplikasyon)

    EYS, RPE65, RPGR, RP2, RDH12, RHO, BEST1, ABCA4, USH2A, RP1, CRB1


    Rahim Kanseri Paneli, Hedef Mutasyon

    EPCAM, MLH1, MSH2, MSH6, PMS1, PMS2, PTEN