Zöliakie Test: what does this mean exactly?

A celiac disease test in the consumer DNA space (e.g., MyBody-X) typically screens for the risk variants HLA-DQ2 and HLA-DQ8. These are necessary but not sufficient for developing celiac disease: about 30 % of the population carry these genes, yet only about 1 % actually develop the condition. A positive genetic result does not mean you have celiac disease – it only indicates an elevated risk. Diagnosis requires additional specific antibodies (tTG-IgA) and a duodenal biopsy while on a gluten-containing diet. Consumer tests often do not report the exact haplotype combination (e.g., homozygous vs. heterozygous), which further stratifies risk. Also, rare HLA-DQ variants are often missing. If you have symptoms (bloating, diarrhea, fatigue), seek medical evaluation before going gluten-free – a diet before diagnosis can skew test results. Evidence: well-established for genetic risk, but the test alone is not diagnostic.