Ataxia-Telangiectasia

This test is part of AmbrySCREEN Version2™, a targeted mutation panel. Common mutations associated with the following conditions are included on this panel.

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This test is part of AmbrySCREEN Version2™, a targeted mutation panel. Common mutations associated with the following conditions are included on this panel.

Disease Name 
Ataxia-Telangiectasia
Disease Information 

Ataxia-Telangiectasia affects the nervous system, immune system, and other body systems and is characterized by progressive difficulty with coordinating movements beginning in early childhood leading to difficulty walking, problems with balance and hand coordination, involuntary jerking movements, muscle twitches, and disturbances in nerve function. 

People often have a weakened immune system, and many develop chronic lung infections and are also at an increased risk of developing cancer, particularly leukemia and lymphoma.  Although people with ataxia-telangiectasia usually live into adulthood, their life expectancy is reduced.

Test Description 

Specific mutation testing of ATM (c.1561delAG, c.7638del9, c.5712insA, c.8011-2A>C, p.R35X)

Genes