Genetic testing for coeliac disease (HLA-DQ2 and HLA-DQ8)

Tests to understand where your symptoms come from before deciding anything.

Finding out whether you carry the genetic predisposition to coeliac disease.

Almost everyone with coeliac disease carries the HLA-DQ2 or HLA-DQ8 genes. If you do not, coeliac disease is very unlikely, which is useful to know when there is unexplained anaemia or iron deficiency, recurrent miscarriage, difficulty getting pregnant or digestive symptoms.

Carrying them does not mean you have coeliac disease: a large part of the population carries them and most never develop it. If the result is positive and there is a suspicion, the diagnosis is completed with blood antibody tests and, when needed, with a gastroenterologist.

Frequently asked questions

My result is positive. Am I coeliac?

No. A large part of the population carries the HLA-DQ2 or HLA-DQ8 genes and most never develop the disease. If the result is positive and there is a suspicion, the diagnosis is completed with blood antibody tests and, when needed, with a gastroenterologist.

And if it is negative, what has it told me?

It rules things out. Almost everyone with coeliac disease carries one of those two genes, so if you do not, coeliac disease is very unlikely and we can go on looking for the cause elsewhere.

What does coeliac disease have to do with gynaecology?

It is useful to know when there is unexplained anaemia or iron deficiency, recurrent miscarriage, difficulty getting pregnant or digestive symptoms. Those are common reasons for coming to a gynaecology clinic, and it is a door worth checking.

Do I have to be eating gluten when I have it done?

Not for this test: it is a genetic test and your genes do not change with what you eat, so it makes no difference whether you are eating gluten or have cut it out.

Other diagnostic tests

Gynaecological ultrasound
The basic imaging test to see the uterus and ovaries, during the same appointment.
Colposcopy and cervical biopsy
A magnified look at the cervix when your smear or HPV test suggests it.
Smear test and human papillomavirus (HPV) typing
Cervical cancer screening, including the virus genotype when it is present.
Vaginal and endometrial microbiome testing
A genetic analysis of the bacteria and fungi living in your vagina or endometrium.
Cultures and microbiological tests
They are not only for diagnosing sexually transmitted infections: in premenstrual syndrome they can be the key.
Cytokine profile in endometriosis
A blood test measuring inflammatory markers associated with endometriosis.
Non-invasive prenatal test (NIPT)
Screening for the main chromosomal conditions in the baby from a blood sample taken from the mother.
Thrombophilia testing
A genetic test for variants that increase the tendency to form blood clots.
Oxidative stress testing
A test measuring the balance between oxidative damage and your antioxidant defences.
Microbiological testing of your partner
When infections keep coming back, sometimes your partner needs to be tested too.

Whether a test or treatment is right for you is decided together, in consultation, after assessing your case. This page is for information only and does not replace a medical assessment.

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