Genetic study of coeliac disease
What is coeliac disease?
Coeliac disease is a permanent intolerance to gluten, which is found in the seeds of cereals such as wheat, barley, oats and rye, among others.
The European Society of Gastroenterology defines coeliac disease (CD) or coeliac condition as an autoimmune disease characterised by intolerance to gluten.
Autoimmune diseases occur when our immune system, which normally defends us against infectious agents, reacts with its own cells.
Process
Collection of 3 mL of EDTA blood.
Receipt of the sample in our laboratory.
Delivery of the report within 7 working days.
Your doctor will explain the results.
Indications
The study is recommended for:
- Diagnose
In patients with inconclusive serology and clinical suspicion.
In symptomatic patients with normal serology and biopsies.
- Genetic inheritance
Study first-degree relatives of a person with coeliac disease (parents, siblings and children), in order to know the genetic susceptibility.
- Risk groups
Asymptomatic people with coeliac disease associated diseases, such as diabetes mellitus, thyroiditis, dermatitis herpetiformis, among others.
Symptoms
The most common symptoms of coeliac disease are:
- Weight loss
- Loss of appetite
- Fatigue
- Nausea
- Vomiting
- Diarrhoea
- Abdominal distention
- Loss of muscle mass
- Stunted growth
- Irritability
- Apathy
- Abdominal pain
- Meteorism
There are 3 types of coeliac disease:
Symptomatic
Individuals are symptomatic and have serological and genetic test data consistent with CD.
Subclinical
People have no symptoms, but their diagnostic tests are positive.
Potential
These individuals have a genetic predisposition determined by the positivity of some allele(s), in the absence of other positive analytical tests, their average probability of developing active CD is 13%.
Results
It is indicated for each of the alleles analysed whether it is:
+ POSITIVE o – NEGATIVEAnd a genetic risk associated with coeliac disease is established.
