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Alport Syndrome: Diagnosis

 
Medical Encyclopedia: Alport Syndrome: Diagnosis

Alport syndrome is diagnosed with a medical evaluation and family history, together with a kidney biopsy that can detect changes in the kidney typical of the condition. Urinalysis may reveal blood or protein in the urine. Blood tests can reveal a low platelet level.

In addition, tests for the Alport gene are now available. Although testing is fairly expensive, it is covered by many types of health insurance. DNA tests can diagnose affected children even before birth, and genetic linkage tests tracing all family members at risk for Alport syndrome are also available.

— Carol A. Turkington



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