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How do I know if I'm an ataxia telangiectasia carrier?

Genetic testing is used to identify carriers of the defective gene that causes ataxia telangiectasia (AT), so testing a blood or tissue sample is necessary to determine whether you have the gene. But because AT is so rare, testing is reserved for people with a family history of the disease. Consider meeting with a genetic counselor to discuss your concerns and for help deciding whether you should undergo genetic screening.

Donna Hill Howes, RN
Family Medicine
In the past, carriers were identified mainly because they were parents of a child with ataxia telangiectasia (A-T). With the cloning of the ATM gene, however, physicians or cancer genetics professionals can now conduct genetic testing, analyzing patients' DNA to look for A-T mutations in the ATM gene. The genetic testing is complex and difficult, however; definitive results may not be possible. One of the most helpful laboratory tests used to assist in the diagnosis of A-T is the measurement of "fetal proteins," or serum alpha-fetoprotein, in the blood. These are proteins that are usually produced during fetal development but may persist at high levels in some conditions (such as A-T) after birth. The vast majority of A-T patients (more than 95%) have elevated levels of serum alpha-fetoprotein. When other causes of elevations of alpha-fetoprotein are eliminated, elevated alpha-fetoprotein in the blood, in association with the characteristic signs and symptoms, makes the diagnosis of A-T a virtual certainty.

This answer is based on source information from National Cancer Institute.</p>

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Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.