Genetic Testing


According to the University of Chicago Celiac Disease Center, 30% of the population carry the HLA ((human leukocyte antigen) -DQ2 and DQ8 genes, yet only 5% of these individuals will ever develop Celiac. Gene testing is something to be considered, however.  Celiac researchers recommend testing for first degree relatives of Celiacs, for individuals with other auto-immune diseases and for those with certain genetic disorders (Down’s Syndrome). Certainly someone already diagnosed with Celiac would not benefit from the test, but for individuals who fall into the groups stated above, an absence of the HLA -DQ2 & DLA-DQ8 markers would substantially decrease (99.9%) the possibility of ever developing Celiac (rule it out!).  In this case, it would provide some peace of mind, for example, to a parent with Celiac who wants to know whether or not their child(ren) is susceptible to developing Celiac – or not. If the genes are not present, the child wouldn’t need to be continuously monitored with blood screening – or the opposite, identifying the child who will need to be monitored more closely. Genetic testing is often covered by health insurance, but not always.

If your doctor’s office is unable to arrange the genetic testing, there are a few laboratories that now perform the testing.  A kit will be mailed and you can perform the test in your home (via swab of the cheek, or saliva sample).  You can find the labs on-line, but it is recommended you find one that specializes in Celiac Disease.  Many leading Celiac Research Centers also perform the test, so you may want to do some research to find a convenient location.

Important to note when considering genetic testing:

–       The DQ2/DQ8  genes are, in most cases, necessary to develop Celiac

(note: According to recent research, there is a 2 to 3 percent of population diagnosed with Celiac who do not have the DQ2/DQ8 genes, but this is rare)

–       1/3 of the general population also has these genes and will never develop Celiac

–       An absence of the DQ2/DQ8 genes does not rule out gluten-sensitivity

–       The test results will not be affected if you are on a gluten-free diet

A sampling of companies who perform genetic testing via kits (available by mail) include:

For more information on genetic testing view:

For information on non-celiac Gluten-Sensitivity genes, read HERE

University of Chicago Celiac Disease Center’s article on the role of Genetic Testing (2014)