Molecular genetic analysis is now possible for an increasing
number of single gene disorders. In some cases direct mutation
detection is feasible and molecular testing will provide or
confirm the diagnosis in the index case in a family. This enables
tests to be offered to other relatives to provide presymptomatic
diagnosis, carrier testing and prenatal diagnosis as appropriate.
For recessive conditions that are due to a small number of gene
mutations, or those that have a commonly occurring mutation,
it may also be possible to offer molecular based carrier tests to
an unrelated spouse. Tests for very rare disorders in the UK are
usually carried out on a national basis by designated
laboratories. For the more common disorders, genetic analysis is
undertaken in most of the regionally based NHS molecular
genetic laboratories. In this chapter, examples of some of these
common inherited disorders have been chosen to illustrate the
range of tests performed.
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