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Molecular Analysis Lab studies request form | CPT Codes/Price List (PDF)

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:

For more information about molecular diagnostic testing available at the Greenwood Genetic Center, please contact Jo Anne Babb, Molecular Diagnostic Laboratory Administrator,

toll free at 1-800-473-9411 or (864) 941-8147