How Can I Be Tested?

If you suspect that you or a member of your family may have a monogenic form of diabetes, you should seek help from health care professionals—physicians and genetic counselors—who have specialized knowledge and experience in this area. They can determine whether genetic testing is appropriate, select the genetic tests that should be performed, and provide information about the basic principles of genetics, genetic testing options, and confidentiality issues. They also can review the test results with the patient or parent after testing, make recommendations about how to proceed, and discuss testing options for other family members. For more information, consult the NIH's National Diabetes Information Clearinghouse website.

Clinical Tests
Tests for monogenic diabetes are commercially available through Athena Diagnostics, the University of Chicago, the Exeter Diabetes Genetic Centre in the UK which initially discovered this form of diabetes, and other CLIA-approved laboratories.

Genetests.org lists the laboratories that offer clinical testing.

Information about the Athena test
The Athena test (#844) requires 10 ml of whole blood (2 ml pediatric minimum). The test must be requisitioned by the doctor, who completes the Endocrinology Requisition Form.

This test is not covered by Medicare. For patients who are on Medicare, the doctor also completes the Advance Beneficiary Notice (ABN) Form. Athena then bills a discounted rate for the test (approximately $1,700). Where there is third-party pay, Athena can bill the insurance company or the hospital.

The turn-around time for test results is 7-14 days.

Information about the University of Chicago test
The Human Genetics Laboratory at the University of Chicago, a CLIA-approved laboratory, can test for the most common mutation in transient neonatal diabetes, UPD6, and for Kir6.2 (KCNJ11). The website of the University of Chicago's Human Genetics lab is www.genes.uchicago.edu/lab.html.

Testing for Monogenic Diabetes as Part of a Research Study
The Diabetes Research department and the Centre for Molecular Genetics at the Peninsula Medical School and Royal Devon and Exeter Hospital, Exeter, United Kingdom (www.diabetesgenes.org) provides free testing for Kir6.2 in a diagnostic lab without any charge to the patient or physician. On the website there is also information for patients and health care professionals about genetic forms of diabetes. There is additional information on the website for people who are interested in being tested as part of a research program.