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Screening test for identifying defects (mutations) using various methods such as SSCP – autosomal recessive 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 who has had an affected child to undergo prenatal diagnosis to determine with a high degree of reliability whether subsequent fetuses are healthy or affected.

  2. To establish which family members carry the mutation and are therefore considered to be carriers but not affected. Family members found to be carriers will be at risk for having an affected child if their partners are also carriers, and therefore their partners should also undergo testing for carrier status. However, gene sequence testing on the partner is not simple – it is expensive, time-consuming, and not completely reliable. Carrier testing involving examining the entire gene sequence is not routinely performed.

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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