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What is MODY  |  Testing and Diagnosis  |  Disease Management  |  Resources

 

Testing and Diagnosis

 

Because MODY shares some symptoms with types 1 and 2 diabetes, the majority of patients with MODY are first wrongly diagnosed with one of these other forms of diabetes. These patients are often not properly diagnosed until they are adults, and sometimes, they may never be diagnosed with MODY. Correct diagnosis of MODY is essential, as it can predict the clinical course of the patient and guide the most appropriate treatment.

 

Genetic testing for MODY is available and can help diagnose the majority of people with MODY. Genetic testing for MODY should be seriously considered for diabetics of any age with non-ketotic insulin-sensitive hyperglycemia or with a family history of diabetes because testing allows for the differentiation of MODY from type 1 and type 2 diabetes and among common subtypes.

 

Testing and diagnosing MODY can have a direct and positive effect not only for the specific patient but also for his or her family members. Because MODY is typically inherited, family members of MODY patients are at an increased risk for the disease, as well. In families of MODY patients, genetic testing can detect mutation carriers before they become hyperglycemic, identifying diabetes risk.

 

About the MODY Evaluation Genetic Test

 

Athena Diagnostics offers the MODY Evaluation, which permits fast and accurate diagnosis of MODY in the majority of affected individuals, because the six genes included in the MODY Evaluation are associated with about 85% of all cases of MODY in the U.S. population.1

 

The six genes evaluated are: HNF4A (MODY1), GCK (MODY2), TCF1 (MODY3), IPF1 (MODY4), TCF2 (MODY5), and CEL (MODY8).

 

As such, the MODY Evaluation can distinguish among the common subtypes of MODY, facilitating selection of the most appropriate treatment. The test also enables family screening for MODY, promoting timely detection of hyperglycemia in family members of MODY patients.

 

Analysis of recent testing for multiple forms of Monogenic Diabetes has revealed high rates of detection of disease variants across all subtypes. The below table lists the detection rates for the five most common subtypes of MODY.

 

Percent Disease Varient Detection Rates for Monogenetic Diabetes

 

For more information on MODY Evaluation or to order this test, please call 800-394-4493 extension 2 or email MODY@athenadiagnostics.com.

  1. Raeder, H., et al., (2006) Nature Genetics, 38(1): 54-62.
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