top of page
CL504 Genomic Center Logo v3 convert-01.png

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]

bottom of page