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