• Coeliac disease assessment: Determining whether genetic susceptibility is present.
• Persistent gastrointestinal symptoms: Bloating, diarrhoea, abdominal discomfort or unexplained digestive disturbance.
• Unexplained nutritional deficiencies: Iron deficiency, low B12, folate deficiency or impaired absorption of fat-soluble vitamins.
• Family history of coeliac disease: First-degree relatives diagnosed with coeliac disease or gluten-related disorders.
• Autoimmune conditions: Thyroid disease, type 1 diabetes or other immune-mediated health concerns.
• Unexplained fatigue or weight loss: Ongoing symptoms without a clear gastrointestinal diagnosis.
• Bone health concerns: Reduced bone density or history of fractures linked to possible malabsorption.
• Dermatological symptoms: Persistent rashes or skin conditions suggestive of gluten-related immune responses.
• Fertility concerns: Unexplained subfertility or recurrent pregnancy difficulties in the context of possible malabsorption.

The DNA Gluten Panel evaluates the presence of HLA-DQ2 and HLA-DQ8 haplotypes, which are strongly associated with genetic susceptibility to coeliac disease. These immune-related genetic variants influence how gluten-derived peptides are presented to the immune system within the small intestine.

Possession of these haplotypes is common in the general population and does not confirm disease development. However, the absence of both variants makes coeliac disease unlikely. Genetic predisposition may help explain variability in immune activation, intestinal inflammation and symptom expression following gluten exposure.

Results are considered alongside clinical history, serology testing, dietary intake and, where relevant, endoscopic findings. Reviewing genetic susceptibility in this broader diagnostic context can support more efficient investigation of ongoing symptoms and help guide decisions around further testing or dietary management.

Practical

Sample required:

Blood Spot

Average processing time:

Maximum of 21 days

Research

• Babron, M., Nilsson, S., Adamovic, S., Naluai, Å T., Wahlström, J., Ascher, H., . . . Clerget-Darpoux, F. (2003). Meta and pooled analysis of European coeliac disease data. European Journal of Human Genetics, 11(11), 828-834. DOI: 10.1038/sj.ejhg.5201051

• Heel, D. A., Franke, L., Hunt, K. A., Gwilliam, R., Zhernakova, A., Inouye, M., . . . Wijmenga, C. (2007). A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. Nature Genetics, 39(7), 827-829. DOI: 10.1038/ng2058

• Hunt, K. A., Zhernakova, A., Turner, G., Heap, G. A., Franke, L., Bruinenberg, M., . . . Heel, D. A. (2008). Newly identified genetic risk variants for celiac disease related to the immune response. Nature Genetics, 40(4), 395-402. DOI: 10.1038/ng.102

• Monsuur, A. J., Bakker, P. I., Zhernakova, A., Pinto, D., Verduijn, W., Romanos, J., . . . Wijmenga, C. (2008). Effective Detection of Human Leukocyte Antigen Risk Alleles in Celiac Disease Using Tag Single Nucleotide Polymorphisms. PLoS ONE, 3(5). DOI: 10.1371/journal.pone.000227