Patients suffering from celiac disease, characterized by the immune system attack on the small intestine when gluten is consumed, often experience a years-long diagnostic journey because of the many different symptoms it can present. Symptoms can range from abdominal issues and joint pain to brain fog, depressed mood, and concentration issues.
To help better diagnose and identify patients at risk of developing the disease, empowerDX today announced the release of the at-home Celiac Risk Gene Test. Currently, 60-70% of individuals with celiac disease are misdiagnosed or undiagnosed. According to the company, more than 99% of people who go on to develop the disease have one of the genetic variants identified in the test. In conjunction with the release of the test, Clinical Enterprise, Inc. which does business as empowerDX has become a sponsor of the Celiac Disease Foundation whose mission is to increase the rate of diagnosis, improve treatments, and find a cure.
The Celiac Risk Gene Test differs from most celiac disease tests which are blood-based. The empowerDX test uses uses a sample taken from two non-invasive mouth swabs to analyze human leukocyte antigen HLA markers. Results for each marker are provided to individuals through a secure online portal ten business days after sample-receipt at the company’s CLIA-certified lab. The test is $199 and available for patients three years and older. Eurofins Donor & Product Testing, Inc. performs the molecular testing and carries extensive experience to test and interpret HLA results.
The new test identifies risk in patients, not necessarily the presence of the disease. Susceptibility to celiac disease is strongly associated with the HLA alleles DQA1*05:02 and DQB1*02:01, so individuals who with these genetic markers should consult with their physician on how to monitor for celiac disease and improve their overall gut health. Testing negative for all three markers means the lifetime risk of developing celiac disease is less than one percent.
Framingham, MA-based, empowerDX, now has a portfolio of more than 20 products, including the first at-home PFAS test as well as MTHFR, CoQ10, vitamin D, APOE, and one of the most sensitive at-home COVID PCR tests on the market. The start-up’s goal is to make testing for a wide range of health, including heart, sexual and mental health, thyroid, and vitamin-deficiencies, affordable and accessible to the consumer.