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What to know about genetic testing and counseling

Testing for monogenic diabetes involves providing a blood sample from which DNA is isolated. The DNA is analyzed for changes in the genes that cause monogenic diabetes. Abnormal results can determine the gene responsible for diabetes in a particular individual or show…

whether someone is likely to develop a monogenic form of diabetes in the future. Genetic testing can also be helpful in selecting the most appropriate treatment for individuals with monogenic diabetes. Prenatal testing can diagnose these conditions in unborn children.

Most forms of monogenic diabetes are caused by dominant mutations, meaning that the condition can be passed on to children when only one parent is affected. In contrast, if the mutation is a recessive mutation, a disease gene must be inherited from both parents for diabetes to occur. For recessive forms of monogenic diabetes, testing can indicate whether parents or siblings without disease are carriers for recessive genetic conditions that could be inherited by their children.

Commercial genetic testing for NDM and MDM is now available from several companies, the most comprehensive being Athena Diagnostics: www.athenadiagnostics.com.

Doctors can access this site to order specific genetic tests that are establsihed and not part of a research protocol. The Kovler Diabetes Center is delighted to provide help or follow up in choosing which tests to order, interpreting results, or following patients with monogenic diabetes long term to help establish best practices.

 

Other articles in Special Edition: Uncommon Diabetes Diagnoses:

What is Monogenic Diabetes? Many times misdiagnosed!

Case Study: Lilly Jaffe

What is neonatal diabetes mellitus (NDM)?

What is maturity-onset diabetes of the young (MODY)?

Hope through Research