How to diagnose Wolfram syndrome ?
How is Wolfram syndrome diagnosed? A diagnosis of Wolfram syndrome is based on the presence of characteristic signs and symptoms. The identification of a change (mutation) in the WFS1 gene or CISD2 gene confirms the diagnosis. Is genetic testing available for Wolfram syndrome? Yes. Clinical genetic testing is available for changes (mutations) in WFS1 and CISD2, the two genes known to cause Wolfram syndrome type 1 and Wolfram syndrome type 2, respectively. Carrier testing for at-risk relatives and prenatal testing are possible if the two disease-causing mutations in the family are known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. It offers information on genetic testing for Wolfram syndrome type 1 and Wolfram syndrome type 2. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.