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Molecular analysis of gene mutations is the standard practice
for diagnosis of many genetic disorders. In contrast to molecular
genetic studies in the past which could only detect mutations
indirectly via linkage, detection of specific alterations at
the DNA level are now discernable. Mutations in disease genes
are detectable using a variety of molecular diagnostic techniques.
The identification of a specific mutation in a proband allows
rapid and accurate testing of other family members for the same
mutation. This information plays a crucial role in genetic counseling
and determination of recurrence risk. With the current growth
of genetic knowledge from the Human Genome Project, molecular
diagnosis of additional disorders will become possible in the
near future.
Analysis in the Molecular Diagnostic Laboratory is typically performed on nucleic acids isolated from peripheral blood, buccal swabs, cultured amniocytes, or cultured chorionic villi samples. Culturing services for
prenatal samples are also available. The Molecular Diagnostic Laboratory at the Greenwood Genetic
Center currently performs testing for the following genetic disorders:
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