• Vitreoretinopati ve Wagner Sendromu (Panel)

    COL2A1, FZD4, LRP5, NDP, TSPAN12, VCAN


    Vanishing White Matter, Dysmyelinating, and Hypomyelinating Leukodystrophy (NextGen Sequencing Panel and Copy Number Analysis; 62 Genes)

    ACADS (606885), ACO2 (100850), ADSL (608222), AP4B1 (607245), B3GALNT2 (610194), COX7B (603792), CYP27A1 (606530), DARS (603084), DARS2 (610956), DDOST (602202), DHFR (126060), DNM1L (603850), EIF2B1 (606686), EIF2B2 (606454), EIF2B3 (606273), EIF2B4 (606687), EIF2B5 (603945), ELOVL4 (605512), ERCC6 (133540), FA2H (611026), FKRP (606596), FKTN (607440), FOLR1 (136430), FOXG1 (164874), GFM1 (606639), GJB1 (304040), GJC2 (608803), GLUL (610015), GPR56 (604110), HSPD1 (118190), HTRA1 (602194), IDUA (252800), KCNT1 (608167), LAMA2 (156225), LARGE (603590), MARS2 (609728), MCOLN1 (605248), MEF2C (600662), MLYCD (606761), MTTP (157147), MUT (609058), NOTCH3 (600276), PAH (612349), PEX7 (601757), PHGDH (606879), PLP1 (300401), POLG (174763), POLR3A (614258), POLR3B (614366), POMGNT1 (606822), POMT1 (607423), POMT2 (607439), PTEN (601728), RMND1 (614917), SLC16A2 (300095), SLC25A12 (603667), SLC33A1 (603690), SOX10 (602229), STXBP1 (602926), TUBB4 (602662), TYMP (131222), UBE2A (312180).