Predisposition to coeliac disease HLA-DQ2.5 (DQA1*05/DQB1*02), HLA-DQ2.2 (DQA1*02/DQB1*02), HLA-DQ8 (DQA1*03/DQB1*03:02)

Test covered by the reimbursement:
YES
Clinical expertise code:
208
Test without reimbursement:
YES
Gender:
Woman/Man
Material:
Peripheral blood, Buccal swab …
Turnover time:
3 weeks
STATIM:
3 weeks

Material:

Peripheral blood | 1x 3 ml of whole blood in K3 EDTA tube
Storage after examination: week after the report is issued 2 – 8°C
Buccal swab | 2x swab stick for buccal swab collection
Storage after examination: week after the report is issued 2 – 8°C
Isolated DNA from blood | 10–100 ng/μL of isolated DNA from blood in a PCR tube of at least 15 μL.
Storage after examination: stored in a DNA archive without restriction 15°C

Quick test description:

Testing for predisposition to coeliac disease by real-time PCR to detect DQ2.5, DQ2.2 and DQ8 haplotypes.

Test details:

Coeliac disease (gluten enteropathy) is a chronic autoimmune inflammatory disease of the lining of the small intestine. The disease develops in genetically predisposed people after exposure to gluten contained in the diet. Typical manifestations of coeliac disease include diarrhoea and malabsorption syndrome, with the only manifestations of ongoing disease possibly being resistant anaemia, metabolic osteopathy, tetany, neuropathy, dermatitis herpetiformis, infertility or depression. The prevalence of the disease in the Czech population is 1:200–1:250. The main genetic factors associated with the development of coeliac disease include class II HLA allele molecules – haplotypes: HLA-DQ2.5, DQ2.2 and DQ8. The testing determines the presence of class II HLA alleles, which are associated with an increased risk of developing coeliac disease: HLA-DQ2.5 (DQA1*05/DQB1*02), HLA-DQ2.2 (DQA1*02/DQB1*02) and HLA-DQ8 (DQA1*0301/DQB1*03:02). If all risky HLA-DQ alleles are excluded, the diagnosis of coeliac disease is highly unlikely (high sensitivity of the test). However, evidence of risk genotype cannot be interpreted as confirmation of the diagnosis of coeliac disease, as 30–40% of the Caucasian population is HLA-DQ positive, but the coeliac disease develops only in 1–2% (low predictive value of the test) of people during their lifetime.

 HLA-DQ typing is recommended in patients with unclear diagnosis, in groups at increased risk of coeliac disease, i.e. direct relatives of a patient with a confirmed diagnosis of coeliac disease, patients with a disease that has an increased association with coeliac disease (e.g. type I diabetes mellitus, Down syndrome), etc. It is tested by real-time PCR. 

Indication

patients with an unclear diagnosis and suspicion of coeliac disease (latent, silent forms), patients with a clinical predisposition to coeliac disease and a high level of specific antibodies for coeliac disease without the need for invasive biopsy (e.g. in children), groups with increased risk of coeliac disease – direct relatives of the patient with confirmed coeliac disease or patients with disease that has associations with coeliac disease (e.g. type I diabetes mellitus, SLE, autoimmune thyroiditis, Down syndrome, IgA nephropathy)

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