Celiac Disease – Gluten Intolerance

According to published studies¹, polygenic risk score (PRS) evaluation offers greater accuracy in assessing celiac disease risk compared to traditional HLA-DQ analysis (which is also included in the test).

The GENOSOPHY® genetic test for celiac disease risk assessment is based on the analysis of 46 genetic variants that contribute to the development of the condition. The test is performed using GENOSOPHY®’s award-winning algorithm, ensuring high reliability in risk evaluation.

Conditions Covered by the Test

This test estimates relative risk for celiac disease and is recommended for:

• Individuals with a family history of celiac disease or other risk factors
• People showing symptoms such as gastrointestinal disturbances, unexplained weight loss, or anemia, who wish to explore their genetic predisposition
• Individuals with autoimmune diseases, as celiac disease may co-exist with other autoimmune conditions

Clinical Benefits of GENOSOPHY®’s Polygenic Risk Score

Diagnosis

• More accurate estimation of genetic risk for celiac disease, offering complementary information to standard diagnostic tests

Prognosis

• The polygenic score can also serve as an exclusion tool—in the reference study, no cases of celiac disease were observed in individuals with risk scores below the 38th percentile

Management

• Targeted guidance for additional diagnostic procedures, avoiding unnecessary endoscopies in individuals at low genetic risk
• Enables a personalized approach to managing celiac disease

Testing Process

• Saliva sample collection
• Analysis of 46 genetic loci and calculation of relative risk using the GENOSOPHY® algorithm
• Results available in 5–6 weeks

Supplementary Services

Based on each individual’s genetic profile, GENOSOPHY® also offers:

• Genetic counseling
• Diet plan based on genetic results
• Nutritional consulting

References

1. Sharp et al., Am J Gastroenterol 2020;115(11):1839–1847 / DOI: 10.1111/apt.15826