Reasons For Testing

People take this test for a variety of reasons. Some want to know their genetic risk factors for Celiac disease or to rule out a diagnosis. Others want to help their family members understand their risk.

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  • Must be over age 18.
  • Cannot have had a bone marrow transplant.
  • Testing is particularly important for anyone diagnosed with Celiac disease who has not had genetic testing.
  • Symptoms of Celiac disease, including severe diarrhea, loose stools, bloating, gas, and belly pain shortly after eating foods that have gluten.
  • Family history of Celiac disease.
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About Celiac Disease

Celiac disease is an intolerance to gluten, a natural substance found in flour and in foods made with rye, barley, or wheat. People with Celiac disease can experience severe diarrhea, loose stools, bloating, gas, and belly pain shortly after eating foods that have gluten. Symptoms can be mild or severe. Other symptoms resulting from Celiac disease include iron shortage, low red blood cell counts (anemia), canker sores (sores inside the mouth), reduced bone density (osteoporosis), and feeling tired. For individuals with Celiac disease, their immune system (whose normal job is to fight infections in our body) reacts to the gluten in the food they eat. Over time, this damages the lining of their bowel and changes how they absorb nutrients.

The only known treatment for Celiac disease is eating a gluten-free diet. This allows the lining of the bowel to heal and reduces the symptoms of Celiac disease.

How is Celiac Inherited?

If you have no family history, your risk of developing Celiac disease is 1% (1 in 100).

You are encouraged to share your Celiac disease testing results with your family members. If your results show a high risk for Celiac disease, your close family members (e.g., parents, siblings, children) could also be at a higher risk to develop Celiac disease.

If your Celiac disease testing results are negative, your family members still could be at risk to develop Celiac disease.

Anyone who wants to know their own genetic risk should consider testing.

In general, people with at least one close family member with a Celiac disease diagnosis have a 5-20% (up to 1 in 5) chance of developing Celiac disease themselves.

Your risk may be as high as 40% (2 in 5) if you share the same genetic variants as your affected family member.

Genetic Testing For Celiac Disease

There are two known important genes associated with Celiac disease (DQA1, DQB1).

Celiac disease runs in families. Certain genetic variants in genes known as DQA1 and DQB1 increase a person’s chance of developing Celiac disease. The proteins made by DQA1 and DQB1 work together and usually do not recognize gluten.

However, if certain genetic variants are present, the DQA1 and DQB1 proteins work differently and recognize gluten in the body. This can cause an immune reaction which can damage a person’s bowel and cause the symptoms of Celiac disease.

Approximately 1 in 100 people from North and South America, Europe, North Africa, and India have Celiac disease. Approximately 30 out of every 100 people from these same countries (30%) have the specific genetic variants in DQA1 and DQB1 that have been found in people with Celiac disease.

However, only 1 out of these 30 individuals will actually have symptoms of Celiac disease. Therefore, testing positive for these genetic variants does not mean an individual has or will develop Celiac disease. Rather, it means they are more likely to develop Celiac disease than people who do not have these variants.

What Can Genetic Testing For Celiac Disease Tell Me?

Testing would help you and your doctor set an appropriate treatment plan. This test may also help identify family members who are at risk.

Negative Report

A negative report means you do not have any of the genetic variants in DQA1 and DQB1 known to be associated with Celiac disease. You have an extremely low risk (far less than 1 percent) of developing the disease. However, if you experience the common symptoms of Celiac disease, you should talk to your healthcare provider about treatment options.

It is recommended you share your report with your healthcare provider.

These genes do not change over the course of a person’s lifetime. However, if you test negative and the testing technology improves, we may be able to detect more variants in the future.

Genetic counseling is recommended to help understand what this means for you and family members and is available through PWNHealth, the independent provider network that placed your order. To schedule a phone or video consultation with a genetic counselor, please contact PWNHealth by phone: (888) 494-7333 or email: gc@pwnhealth.com.

Positive Report

A positive result means you have the genetic variants in DQA1 or DQB1 that increase your chances of developing Celiac disease.

It is recommended you share your report with your healthcare provider. They can assess other risk factors and determine if you need further testing for Celiac disease.

Blood relatives, including your children, may be at an increased risk. We recommend you share this report with your family members.

Genetic counseling is recommended to help understand what this means for you and family members and is available through PWNHealth, the independent provider network that placed your order. To schedule a phone or video consultation with a genetic counselor, please contact PWNHealth by phone: (888) 494-7333 or email: gc@pwnhealth.com.

Support Available

Information about Celiac disease is available through the National Celiac Association https://nationalceliac.org, the Celiac Disease Foundation (https://celiac.org), and the Beyond Celiac advocacy group (https://www.beyondceliac.org).

Genetic Counseling

Genetic counseling is recommended to help understand what this means for you and family members and is available through PWNHealth, the independent provider network that placed your order. To schedule a phone or video consultation with a genetic counselor, please contact PWNHealth by phone: (888) 494-7333 or email: gc@pwnhealth.com.