Molecular genetic laboratories offer a range of DNA tests.
Direct mutation analysis is available for certain conditions and
provides confirmation of clinical diagnosis in affected
individuals, presymptomatic diagnosis for individuals at risk of
specific conditions, carrier detection and prenatal diagnosis.
Mutation analysis for rare disorders is usually undertaken on a
supra-regional or national basis in designated laboratories. For
mendelian disorders in which mutation analysis is not possible,
gene tracking using linked DNA markers may be used to
predict inheritance of certain conditions (for example Marfan
syndrome and Neurofibromatosis type 1) if the family structure
is suitable.
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