Celiac Disease Awareness Month: the role of genetic testing in diagnosis

Celiac Disease Awareness-Month

This month (May) is Celiac Disease Awareness Month – a time to share knowledge on celiac disease and increase awareness and understanding of the condition.

Celiac disease is an autoimmune disorder affecting millions of people worldwide. It develops over time because of a sensitivity to gluten – a protein found in cereal grains including wheat, rye, and barley.

However, people with celiac disease are commonly misdiagnosed, as the symptoms can be similar to those of other digestive conditions (e.g. irritable bowel syndrome).

In this blog, we look at celiac disease, what it is, and how testing for the genes linked to celiac disease can aid a faster diagnosis.

Understanding celiac disease

Celiac disease affects around 1 in 100 people worldwide. However, according to the Celiac Disease Foundation, only about 30% of people are properly diagnosed.

When a person with celiac disease consumes gluten, this causes the body’s immune system to attack its own tissue, damaging the gut lining and preventing the body from adequately absorbing nutrients from food.

Symptoms can range from mild to severe depending on the person. However, even if symptoms are mild initially, they can get worse over time if the condition remains undiagnosed or untreated and the person continues to consume gluten-containing foods.

Common symptoms of celiac disease include:

  • An itchy rash (dermatitis herpetiformis)
  • Bloating and flatulence
  • Constipation or hard stools
  • Diarrhea or loose stools
  • Disorders that affect co-ordination, balance, and speech (ataxia)
  • Indigestion
  • Nausea, feeling sick and vomiting
  • Nerve damage (peripheral neuropathy)
  • Stomach aches and cramping
  • Tiredness (fatigue) due to not getting enough nutrients from food (malnutrition)
  • Unintentional weight loss

Severe complications from undiagnosed/untreated celiac disease can include osteoporosis, anemia, certain neurological diseases (affecting the brain and nerves) and, in rare cases, intestinal lymphoma and bowel cancer.

Genetic testing for celiac disease

Although there is no cure for celiac disease, the condition can be managed, and the risk of complications reduced by adhering to a life-long gluten free diet. This makes early diagnosis crucial.

Research into the condition has shown that celiac disease runs in families, and those who have a first-degree relative with the condition (i.e. parent, sibling or child) have a higher risk of developing celiac disease in the future.

Expert geneticists have found that the HLA-DQ2 and HLA-DQ8 genes are the most common genes observed in celiac disease patients, making genetic testing – such as the test we offer at AlphaBiolabs – an effective method for determining the likelihood of developing celiac disease.

However, it is worth bearing in mind that these genes are also found in 25-30% of the general population. This means that simply having them does not necessarily mean that a person will develop celiac disease, but the absence of these genes can rule out celiac disease as the cause of any symptoms.

Confirmatory testing for celiac disease usually involves blood testing for antibodies and, depending on the results of the test, a gut biopsy to assess damage to the gut lining.

A Celiac Genetic Test involves collecting a DNA sample using a simple cheek swab. This means that if an individual receives a negative test result for the HLA-DQ2 and HLA-DQ8 genes, celiac disease can be ruled out, without the need for the more invasive confirmatory testing.

If the test results show that an individual has one or both genes (HLA-DQ2 and/or HLA-DQ8), this indicates that they could be at risk of developing celiac disease in the future. The results can be shared with medical practitioners, to support a case for further testing and help fast track a diagnosis.

Where can I buy a genetic celiac test?

AlphaBiolabs’ Celiac Genetic Test uses Human Leukocyte Antigen (HLA) typing to confirm or rule out the potential of developing celiac disease by analyzing six DNA markers for the HLA-DQ2 and HLA-DQ8 genes.

Simply order your test online today and we will ship your kit out to you immediately. Your test kit will contain everything you need to collect your DNA samples at home using cheek (buccal) swabs and return them to our ISO 17025-accredited laboratory.

Your secure, password-protected results will be emailed to you in 4-5 business days.*

Need more information? Visit our Learning Center, call our friendly, knowledgeable Customer Services team on 727 325 2902 or email info@alphabiolabsusa.com.

*From receipt of samples at our laboratory, before 10am.

Celiac Genetic Test

Find out if you have the genes linked to celiac disease, with our non-invasive, at-home test.