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