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Skip Navigation LinksHome Page    >    Tests during the pregnancy    >    Screening tests for identifying gene products for establishing the existence of a disease (methods such as protein truncation) – autosomal dominant diseases
 
 
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Screening tests for identifying gene products for establishing the existence of a disease (methods such as protein truncation) – autosomal dominant diseases

The test is performed on the patients themselves – even if there is only one. These tests involve examining the soundness of the gene products, i.e. the proteins, without examining the sequence of bases, so that the mutation itself is not demonstrated. The result can establish the existence of the disease being investigated.

This is a short, simple and more rapid test than establishing the entire gene sequence. However, it cannot always serve as a prenatal diagnostic tool. It is advisable to test for the exact defect afterwards.

If the defect is found using this method, it is possible to identify who else in the family carries the same mutation and who is therefore considered to be affected. The fetus can also be tested for the defect when 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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