Indications for genetic testing in Alport syndrome
To confirm the diagnosis of Alport syndrome |
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To identify the mode of inheritance (this indicates the risk of renal failure for other family members) |
To exclude TBMN in individuals with persistent hematuria |
To help predict the risk of early-onset renal failure in X-linked disease based on DNA mutation characteristics or previously reported associations |
To enable early prenatal diagnosis for females at risk of an affected pregnancy |
To predict whether an embryo is affected prior to implantation (preimplantation genetic diagnosis) |