Genetic Testing for Celiac Disease (for Providers)

Can celiac disease be passed on to children?

Yes, celiac disease can be passed on to children if a first-degree relative (parent or sibling) carries a gene for the disease. But carrying a gene doesn’t mean a child will definitely have celiac disease. It means they are at risk of developing celiac disease.

What are the genes for celiac disease?

The two genes for celiac disease are human leukocyte antigen (HLA) DQ2 and DQ8. Most people who have celiac disease have at least one of these genes. In very rare cases, a person won’t have these genes, but might develop celiac disease anyway.

How do I do genetic testing?

You can test a child for the genes through a blood test.

How can genetic testing for celiac disease help a child?

Genetic testing can help a child by figuring out if they:

• Are at risk of developing celiac disease at any point in their lifetime.
• Carry the genes for celiac disease, which could be passed to their children in the future.

What do the test results mean?

• If the test results are positive for HLA DQ2 or DQ8, a child is at risk of developing celiac disease. It doesn’t mean they will definitely have celiac disease and the chance of developing celiac disease is still low. But they should have regular blood tests to see they have blood markers (signs in the blood) for celiac disease.
• If the test results are negative for HLA DQ2 or DQ8, a child does not carry the genes for celiac disease. They cannot develop celiac disease or pass it on to their children.

Sometimes, the test results can be hard to interpret. You should talk with a gastroenterologist who specializes in celiac disease if you have questions about the results. They can review results if you have a pediatric patient who has been genetically tested for celiac disease.

Is genetic testing covered by insurance?

In many cases, no, genetic testing for celiac disease is not covered by insurance. The testing can be expensive. If you want your patient to have genetic testing for celiac disease, tell the parents or family to call their insurance company to ask about the cost and coverage of the test.

Rev. 03/2021. Mass General for Children and Massachusetts General Hospital do not endorse any of the brands listed on this handout. This handout is intended to provide health information so that you can be better informed. It is not a substitute for medical advice and should not be used as treatment of any medical conditions. Graphic courtesy of Icon Array.