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Finding the defect (mutation) by establishing the gene sequence – autosomal recessive 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 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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