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Skip Navigation LinksHome Page    >    Tests during the pregnancy    >    Screening test for identifying defects (mutations) using various methods such as SSCP – autosomal dominant diseases
 
 
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Screening test for identifying defects (mutations) using various methods such as SSCP – autosomal dominant diseases

The test is performed on the patients themselves – even if there is only one. The gene can be screened for a mutation without checking each and every one of its component bases. This is a short, simple and more rapid test than establishing the entire gene sequence.

However, this method can identify only some mutations. If the defect is found using this method, it is possible to determine who else in the family carries the mutation and is therefore considered to be affected. 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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