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Skip Navigation LinksHome Page    >    Tests during the pregnancy    >    Finding the defect (mutation) by establishing the gene sequence – autosomal dominant diseases
 
 
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Finding the defect (mutation) by establishing the gene sequence – autosomal dominant diseases

The test is performed on the patients themselves. The mutation (the defect in the gene) can be determined in the patient by establishing the gene sequence. If the defect is found using this method, other members of the family who also carry the same mutation and who are therefore affected can be identified. The fetus can also be tested for the defect if one of the parents is affected, allowing for prenatal diagnosis.

If a patient cannot be examined: It is impractical (but possible) to check family members (or the fetus) directly using the same methods, which are time-consuming and complex.
 
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