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Screening test for identifying defects (mutations) using various methods such as SSCP – X-linked 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:

  1. To allow a couple that has had an affected child to undergo prenatal diagnosis to determine with a high degree of reliability whether subsequent fetuses (especially male ones) are healthy or affected.

  2. To establish which females in the family carry the mutation and who are therefore considered to be carriers but not affected. Women found to be carriers can undergo prenatal tests in every pregnancy in order to establish whether or not the fetus is affected.

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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