Fleck retina

Recommended panel testing at Breda Genetics for this condition: Fleck retina, choroideremia and age-related macular degeneration (ABCA4, CFH, CFB, CHM, EFEMP1, PLA2G5, RDH5, RLBP1, RS1, TIMP3, VPS13B) Summary The term fleck retina is used to describe fundus conditions characterized by multiple yellowish-white lesions of various size and configuration, without vascular or optic nerve abnormalities. Originally this […]

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Membranoproliferative glomerulonephritis

Recommended panel testing at Breda Genetics for this condition: Dense deposit disease, membranoproliferative glomerulonephritis II, atypical hemolytic uremic syndrome & thrombotic thrombocytopenic purpura (ADAMTS13, C3, CD46, CFB, CFHR1, CFHR3, CFHR4, CFHR5, CFH, CFI, DGKE, LMNA, LCAT, THBD) A classification needed first There is a high degree of overlapping information about the genetics of membranoproliferative glomerulonephrites (MPGN) […]

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