What Your Test Results Mean:

Carriers typically show no symptoms of ataxia-telangiectasia; however, carriers are at an increased risk of having a child with ataxia-telangiectasia and may be at an increased risk of developing heart disease and certain cancers. Risk for current or future pregnancies is dependent on the partner’s carrier status. Carrier testing of your partner is recommended in addition to consultation with a genetic counselor.

Disease Explained:

Ataxia-telangiectasia is an inherited condition that impairs the cell’s ability to repair DNA and regulate the cell cycle. Symptoms include difficulty coordinating movements (ataxia), spidery red skin lesions caused by dilated blood vessels, a weakened immune system that may lead to recurrent infections, and an increased risk for cancer. There is no cure for ataxia-telangiectasia, but symptoms can be managed with medications and physical and speech therapy. Affected individuals typically have a decreased lifespan but most live into early adulthood.

How the Genetics Works:

Ataxia-telangiectasia is an autosomal recessive condition caused by pathogenic variants in the ATM gene. In general, individuals have two copies of the ATM gene. Carriers of ataxia-telangiectasia have a single variant in one copy of the ATM gene while individuals with ataxia-telangiectasia have variants in both copies of their genes, one inherited from each parent. Risk for two carriers to have a child with the disorder is 25%.