Genetic Testing

Genetic testing is the only way to confirm a monogenic form of diabetes. Receiving a monogenic diabetes diagnosis may change your treatment options, inform family planning decisions, and improve your own health knowledge. If you or someone you know would like to complete genetic testing there are two routes to explore, as explained below. Once you have completed genetic testing please review you results with a trained medical professional to avoid any misinterpretations of the findings.

Commercial/clinical genetic testing through insurance company (separate from research study)

  1. Call the number on the back of your insurance card and ask if they cover “MODY or Neonatal Diabetes or Monogenic Diabetes Genetic Testing”. They may ask for a “CPT Code” to help locate the specific test
    1. Ex: MODY Panel (81406, 81407, test code: 2141); Neonatal Diabetes Panel (81407, test code: 2138). CPT codes vary depending on which lab is completing the testing
  2. If your insurance covers testing your healthcare provider can proceed with ordering it through an approved laboratory
    1. Ask your insurance company if there is a specific lab that you are required to use to get this testing completed
    2. If they do not fully cover, or if you’re uninsured please refer to research-based genetic testing
  3. If your insurance covers testing, but needs prior authorization from your doctor before moving forward please reach out to your doctor’s office and request prior authorization
    1. Ask your insurance company if they have a specific prior authorization form for your doctor to complete and provide it to your doctor
    2. If they do not have a form we can provide a prior authorization letter template that your healthcare provider can modify. Please reach out to our Study Coordinator for more information
  4. If your doctor is unsure on how to proceed with ordering the test, call the laboratory and ask how they would like to receive the DNA sample and if there are any documents that need to be completed by you or your doctor. Sample types include saliva, blood, cultured cells, and extracted DNA. Two options that may be available to provide your sample are:
    1. The laboratory could send your doctor a kit including tubes for collecting your blood, saliva, or buccal (cheek swab) kits as well as a FedEx envelope for shipping the sample to the lab.
    2. The laboratory can send you a kit including saliva or buccal (cheek swabs) and a FedEx label to ship back to the lab.
  5. The test may take several weeks to complete and each lab has a different turnaround time
  6. Please review your genetic testing report with a professional trained in monogenic diabetes. If you would like to reach out to our research team to ask any questions please reach out at

The University of Chicago Genetic Services Laboratories may be one of the labs covered through your insurance company. While this lab is housed at the University of Chicago it is separate from the University of Chicago Monogenic Diabetes Registry.

Research-based genetic testing (University of Chicago Monogenic Diabetes Registry)

  1. If your insurance company will not cover 100% of the testing costs, please complete a registration form to begin the enrollment process
  2. A member of our team will reach out to schedule a consent phone call to discuss your medical/family history and study participation
  3. If you meet our eligibility criteria, we will send an enrollment packet to your home address containing saliva sample kits and consent forms
    1. We do not notify your insurance company or need authorization to complete our research-based genetic testing.
  4. After you’ve completed and returned the forms your DNA sample will be extracted and tested for monogenic diabetes in our laboratory
    1. There is no guaranteed turnaround time for when results will be returned. If you are interested to learn about the status of your sample please contact our Study Coordinator
  5. If there is an abnormal or causal variant identified our team will reach out to you to confirm your current doctor to receive a copy of your genetic testing report
    1. We are unable to send the report directly to you to avoid any misinterpretation of the information
    2. Our research-based genetic testing reports are not intended to be used in your medical record. CLIA-certified testing can be explored by you or your doctor.
  6. If there is not an abnormal or causal variant found in your DNA we do not create a report. Please reach out to our Study Coordinator to learn about the status of your sample