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Finding the defect (mutation) by establishing the gene sequence – X-linked 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, 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 are therefore considered 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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