Coeliac Disease Awareness Month

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

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

Coeliac 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 coeliac 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 coeliac disease, what it is, and how testing for the genes linked to coeliac disease can aid a faster diagnosis.

Understanding coeliac disease

Coeliac disease affects around 1 in 100 people in the UK. However, according to Coeliac UK, only 36% of people are diagnosed, meaning around 500,000 people are suffering with unexplained symptoms.

When a person with coeliac 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 coeliac disease include:

  • An itchy rash (dermatitis herpetiformis)
  • Bloating and flatulence
  • Constipation or hard stools
  • Diarrhoea 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 coeliac disease can include osteoporosis, anaemia, certain neurological diseases (affecting the brain and nerves) and, in rare cases, intestinal lymphoma and bowel cancer.

Genetic testing for coeliac disease

Although there is no cure for coeliac 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 coeliac 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 coeliac disease in the future.

Expert geneticists have found that the HLA-DQ2 and HLA-DQ8 genes are the most common genes observed in coeliac disease patients, making genetic testing – such as the test we offer at AlphaBiolabs – an effective method for determining the likelihood of developing coeliac 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 coeliac disease, but the absence of these genes can rule out coeliac disease as the cause of any symptoms.  

Confirmatory testing for coeliac 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 Genetic Coeliac Disease 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, coeliac 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 coeliac 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 coeliac test?

AlphaBiolabs’ Genetic Coeliac Disease Test uses Human Leukocyte Antigen (HLA) typing to confirm or rule out the potential of developing coeliac disease by analysing 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 UK laboratory.

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

Need more information? Visit our Learning Centre, call our friendly, knowledgeable Customer Services team on 0333 600 1300 or email info@alphabiolabs.com.

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

Genetic Coeliac Disease Test

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