Celiac Disease targeted mutation analysis 


Lab method: Real-time PCR

No of

Price / TAT: 87 EUR / 1-2 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

200 ng DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.

2 ml of saliva
Preferred saliva collection kits are Oragene®DNA and SalivaGene Collection Module II.

Buccal cell sample

Ordering information: Go to online ordering or download sample submission form

Indications for testing:

  1. Testing patients with symptoms, such as chronic diarrhea with weight loss, steatorrhea, postprandial abdominal pain, and bloating
  2. Testing seronegative patients with equivocal small-bowel histological finding
  3. Evaluation of patients on a gluten free diet (GFD) who have not been tested for CD before GFD
  4. Testing patients with discrepant celiac-specific serology and histology
  5. Screening of risk groups (e. g. first-degree relatives, specific syndromes and diseases)

Celiac disease (CD) is chronic gluten-intolerance that primarily affects small intestine in genetically predisposed individuals. Complaints are resolved by exclusion of gluten from diet. CD is characterized by nutrient malabsorption resulting from inflammatory injury to the mucosa of the small intestine after ingestion of wheat gluten or similar proteins in rye, barley and triticale (hybrid of wheat and rye). In contrast rice, buckwheat, millet and corn have generally been considered safe grains for celiac patients. Oats can be introduced into the diet of most people with CD (>95%) but only if oats are confirmed to be uncontaminated by other gluten-containing grains.

The prevalence of CD is estimated at about 1:100 in Caucasian population. Although CD has long been considered a pediatric syndrome, it has been increasingly diagnosed in older children and adults.

CD has a multifactorial inheritance. Pathogenesis of CD is caused by a combination of environmental factors, immunologic factors and variations in multiple genes. It has been shown that viral infections altering intestinal permeability, gut microbiota, breast-feeding and timing of gluten introduction in infant diet influence development of celiac disease. The most important genetic risk factors for CD are presence of HLA-DQ heterodimers DQ2 (encoded by alleles A1*05 and B1*02) and DQ8 (encoded by alleles A1*03 and B1*0302).


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