Celiac Awareness Month: How genetic testing can support early diagnosis

May is Celiac Awareness Month, an annual campaign led by the Celiac Disease Foundation to shine a spotlight on celiac disease – a serious, genetic autoimmune condition triggered by a reaction to gluten.

Celiac disease affects an estimated 3 million Americans, yet 70-80% of those people remain undiagnosed.

That’s millions of people who may be experiencing symptoms, from persistent bloating and fatigue to unexplained weight loss, without ever understanding why.

With the right testing, many of those people could get answers sooner and avoid years of unnecessary suffering.

Here, we take a closer look at celiac disease, how it affects the body, and the testing options available to help you understand whether you’re at risk.

What is celiac disease?

Celiac disease is not a food allergy or intolerance.

When a person with celiac disease consumes gluten, a protein found in wheat, rye, and barley, their immune system mistakenly attacks healthy tissue in the gut.

This causes inflammation and damage to the lining of the small intestine, which in turn interferes with the body’s ability to absorb nutrients properly.

Because the symptoms of celiac disease overlap with other gastrointestinal conditions like irritable bowel syndrome (IBS), many people are misdiagnosed or go without answers for years.

Learn more: Everything you need to know about celiac disease

What are the symptoms of celiac disease?

Symptoms of celiac disease can vary significantly from person to person, and some people experience no obvious gut symptoms at all.

Common signs of celiac disease include:

• Diarrhea or constipation
• Bloating and abdominal pain
• Fatigue and persistent tiredness
• Unexplained weight loss
• Indigestion and nausea
• Mouth ulcers
• Skin rash (dermatitis herpetiformis)
• Nerve damage (peripheral neuropathy)
• Poor coordination (ataxia)

If left untreated, celiac disease can lead to serious long-term health complications including osteoporosis, anemia, infertility, and an increased risk of certain cancers.

Learn more: Is celiac disease serious?

Is celiac disease genetic?

Yes, genetics play a significant role in celiac disease.

People with the condition carry mutations of the HLA-DQ gene (specifically HLA-DQ2 and/or HLA-DQ8), and around 1 in 14 people with a first-degree relative diagnosed with celiac disease will also have the condition – often without knowing it.

HLA genes produce proteins that help the immune system identify foreign material. Where these genes are defective, the body can mistakenly identify gluten as a threat, triggering an autoimmune response that damages the gut lining.

Importantly, while the HLA-DQ2 and HLA-DQ8 gene variants are always present in people with celiac disease, they are also carried by around 4 in 10 of the general population.

Carrying one or both genes does not mean a person has celiac disease; it means they may be at a higher risk of developing it.

Environmental factors are also thought to play a role in whether the condition is triggered.

How can you test for celiac disease?

There is currently no cure for celiac disease, but it can be effectively managed with a strict gluten-free diet. That makes early, accurate diagnosis essential.

Standard diagnostic testing typically involves blood tests to detect specific antibodies, followed by a gut biopsy to assess damage to the intestinal lining. However, before undergoing any invasive procedures, a genetic test for celiac disease can be a valuable first step in understanding whether an individual is at risk.

Our Celiac Genetic Test uses HLA typing to analyze six DNA markers for the HLA-DQ2 and HLA-DQ8 gene variants. A simple, non-invasive cheek (buccal) swab is used to collect the DNA sample, which means the test is suitable for people of any age, including babies and children.

Your test results will show either a negative result – meaning that you are unlikely to develop celiac disease in the future – or that you are at very low, low, moderate, or high risk of developing celiac disease, depending on which genes you have.

These results can be shared with your physician to help inform next steps and, where needed, assist you in receiving a faster diagnosis.

Learn more: What is HLA typing for celiac disease?

Where can I buy a celiac disease test?

It’s easy to order an AlphaBiolabs Celiac Genetic Test online.

The test kit includes everything you need to collect your DNA sample at home using cheek swabs and return them to our ISO 17025 and BBB A+ accredited laboratory for analysis.

Your secure, password-protected results will be emailed to you in just 4-5 business days after we receive your sample at our laboratory.

Here’s what Maxine, an AlphaBiolabs customer, said about our Celiac Genetic Test:

“After suffering for nearly three years with abdominal pain, severe bloating, and bleeding, I was no closer to understanding what was causing my symptoms. I felt like a hypochondriac and a burden, as I had to keep going back to my doctor with the same problems.

“I did some research online and this, as well as comments from family, friends and colleagues, led me to believe I could have celiac disease. I ordered the test, which was amazingly easy to do – just a simple and painless cheek swab.

“My results came back showing that I had a high risk of celiac disease. I took the results to my doctor the next day and was sent for further testing, which confirmed that I have celiac disease.

“I cannot recommend this test highly enough for anyone suffering with symptoms and feeling they are getting nowhere with a diagnosis. Take the test – less than a minute could change your life. It did for me.”

Order your Celiac Genetic Test now or contact our Customer Services team on 727-325-2902 or info@alphabiolabsusa.com for more information.