Table 4.

Indications for genetic testing in Alport syndrome

To confirm the diagnosis of Alport syndrome
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)