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פאנלים
Alport
GC_21
Last update: 19.01.2026
Alport syndrome is an inherited disorder of the glomerular basement membrane characterized by persistent hematuria, progressive kidney disease, sensorineural hearing loss, and characteristic ocular abnormalities. Related inherited nephropathies may present with overlapping renal phenotypes.
This panel includes genes associated with Alport syndrome, thin basement membrane nephropathy, and related hereditary nephropathies. Representative genes include COL4A3, COL4A4, COL4A5, MYH9, LMX1B, and FN1.
This panel is recommended for patients with familial hematuria, suspected Alport syndrome, thin basement membrane disease, or unexplained hereditary glomerular disease, particularly when hearing loss or ocular findings are also present.
CD151, COL4A3, COL4A4, COL4A5, COL4A6, COQ6, MYH9, P3H2
ClinVar P/LP variants (IDs) not covered: COL4A4: [3338164]



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