Coeliac disease genetic test (HLA DQ2/DQ8)
- Requires a medical indication
Coeliac disease genetic test using HLA DQ2 and HLA DQ8 typing. Its main use is to help exclude the disease in unclear situations: if neither of these variants is present, coeliac disease is very unlikely. A positive result does not confirm the diagnosis, because these variants are also present in many healthy people.
Requires a medical prescription
Results in 10-15 working days
Includes: HLA-DQ2 and DQ8 typing by PCR. See what it measures
This is a genetic test and it is interpreted together with the rest of the clinical picture. Its value lies in a negative result, which makes the disease very unlikely; a positive result diagnoses nothing, because a third of the healthy population has it, depending on the study. Talk to your doctor before ordering it.
What it is for
It is used mainly to resolve situations in which antibodies, biopsy and clinical history do not fit together. It can also help when gluten has already been cut out and serology can no longer be interpreted, because the genetic result does not change with diet.
It answers the question «is coeliac disease very unlikely in my case?» better than «do I have coeliac disease?». If it is negative, it allows the disease to be excluded with a high degree of confidence in most cases. If it is positive, clinical and serological data are still required to know whether the disease is present.
When it is recommended
- A gluten-free diet already started, with serology that cannot be interpreted
- Antibodies and biopsy with conflicting results
- Persistent suspicion of coeliac disease with inconclusive previous tests
- First-degree relatives, when the doctor wants to clarify who requires follow-up
- Before considering gluten reintroduction in an unclear case
Clinical comment
The value of HLA DQ2/DQ8 lies in its high value for excluding the disease, not in confirming it. A negative result makes coeliac disease very unlikely. By contrast, around a third of the population carries a compatible variant, and only a minority develop coeliac disease.
That is why this test requires a medical indication and a specific clinical question. A positive HLA result does not justify cutting out gluten, does not replace serology and does not show that the symptoms are related to coeliac disease.
If you are still eating gluten as normal and there are no previous conflicting tests, the coeliac disease blood test with antibodies is usually the most useful initial assessment. Genetics are kept for clarifying the cases in which that route does not give a good answer.
Dr. Antonio Mas
What is tested
• HLA-DQ2 and DQ8 typing by PCR: Looks for the genetic variants linked to a predisposition to coeliac disease. The vast majority of people with coeliac disease carry one of them, but having them does not mean that the disease is active or that it will develop.
- HLA-DQ2 and DQ8 typing by PCR
How to prepare
No fasting or special preparation is required. The result does not change even if you follow a gluten-free diet, and it only has to be measured once, because genetic variants stay the same throughout life.
You can add
Without another needle. It is offered when you order, so you do not have to decide now.
- General blood testA general blood test with full blood count, glucose, cholesterol and kidney and liver function: the basic parameters included in any general check-up.+€59.00
- General + nutritional blood testEverything in the general blood test (anaemia, kidneys, liver, cholesterol and glucose) plus iron stores, vitamin D, vitamin B12 and folic acid. It is the broadest add-on: it covers the general and the nutritional in one go.+€129.00
- Coeliac disease antibodiesMeasures the antibodies used to investigate coeliac disease; for a reliable result, it must be done while you are still eating gluten.+€39.00
- Iron and anaemia studiesDistinguishes between iron deficiency, anaemia and vitamin B12 or folic acid deficiency, which call for different approaches.+€49.00
Related blood tests
We have other profiles in Digestive with more or fewer tests:
- Lactose intolerance test€60.00
- Sorbitol intolerance test€60.00
- Fructose intolerance test€60.00
- SIBO breath test€64.00
- Helicobacter pylori breath test€69.00
- Coeliac disease blood test (antibodies)€69.00
- Vitamin B12 blood test€89.00
- Methylmalonic acid, for borderline B12 deficiency€149.00
- Vitamin B12 blood test with antibodies€149.00
- Gut microbiota test€359.00
The most comprehensive is not always the most useful. Each profile page explains when it makes sense and when it does not.
Often checked together with
They are done from the same sample, so there is no extra visit.
What it is based on
Rubio-Tapia A, Hill ID, Semrad C, et al. · American Journal of Gastroenterology 118(1):59-76
American College of Gastroenterology Guidelines Update: Diagnosis and Management of Celiac Disease
A negative result for HLA DQ2 and DQ8 excludes coeliac disease, which is why the guideline reserves typing for when serology and biopsy do not agree, or to avoid a gluten challenge in someone who has already cut out gluten. A positive result, on the other hand, confirms nothing on its own.
Protocol designed by Dr. Antonio Mas, specialist in Endocrinology and Nutrition, Spanish medical licence no. 080846289, and reviewed in September 2026.
This blood test is a standardised protocol and does not replace a medical consultation. If you have symptoms, a known condition or a complex clinical situation, speak to your doctor.