Celiac Disease Genetic Test (HLA-DQ2/DQ8)
Genetic test that identifies HLA-DQ2 and HLA-DQ8 genetic markers associated with celiac disease, providing valuable information for risk assessment and ruling out celiac disease.
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LevelPanel has no business or affiliate relationship with Quest or LabCorp. These links are provided as a public service.
Lab testing services linked from this site are not available to residents of Alaska, Arizona, or Hawaii, unless otherwise noted on the lab's own website.
This publication is not intended to solicit the purchase of laboratory testing from any individual consumer.
What this test measures
This genetic test determines whether an individual carries the HLA-DQ2 and/or HLA-DQ8 gene variants, the two immune system genes most strongly associated with celiac disease susceptibility. These genes encode proteins on the surface of immune cells that play a role in how the immune system recognizes and responds to foreign substances. In celiac disease, these specific protein variants are involved in presenting gluten-derived peptides to immune cells in a way that triggers the autoimmune destruction of the small intestinal lining.
Approximately 90% to 95% of people with celiac disease carry HLA-DQ2, and the majority of the remainder carry HLA-DQ8. However, carrying these genes does not mean celiac disease will develop: roughly 30% of the general population has one or both variants, yet only about 1% of the population develops the condition. The test's primary clinical value is its negative predictive power. If neither HLA-DQ2 nor HLA-DQ8 is present, celiac disease can be ruled out with approximately 99% certainty, making this test particularly useful for excluding the diagnosis in ambiguous cases or in individuals who have already adopted a gluten-free diet before antibody testing was performed.
Who should consider this test
You might consider this test if you are experiencing any of the following:
- Individuals with symptoms suggestive of celiac disease who have already started a gluten-free diet before serological testing could be performed, as traditional antibody tests may yield false negatives in the absence of gluten consumption.
- People with a family history of celiac disease who want to assess their genetic predisposition, particularly first-degree relatives of those diagnosed with celiac disease.
- Patients with inconclusive or conflicting results from traditional celiac disease antibody tests and small bowel biopsies who need further clarification of their diagnosis.
- Individuals considering genetic screening as part of a comprehensive evaluation for unexplained gastrointestinal symptoms, iron deficiency anemia, or other conditions associated with celiac disease.
- Those who want to rule out celiac disease with high confidence, as the absence of both HLA-DQ2 and HLA-DQ8 markers effectively eliminates the possibility of developing celiac disease in the future.
What to expect
Preparation
No special preparation is required for this genetic test. No fasting is necessary, and individuals do not need to be consuming gluten at the time of testing, unlike other celiac disease tests.
Sample Type
A simple blood draw is performed, typically from a vein in the arm. The collection process takes only a few minutes and involves standard blood collection procedures.
Collection
The sample is collected at a participating laboratory location or healthcare facility. The blood sample is then processed using advanced molecular techniques to analyze the specific HLA gene variants.
Turnaround
Results are typically available within 3-7 business days after the laboratory receives the sample, with no doctor visit required to obtain results.
Understanding your results
Results indicate whether the HLA-DQ2 and/or HLA-DQ8 gene variants are present or absent. A negative result (neither variant detected) effectively rules out celiac disease, which can provide significant reassurance and eliminate the need for further celiac-specific testing. A positive result (one or both variants detected) indicates genetic susceptibility but does not confirm that celiac disease is present or will develop, since the genes are necessary but not sufficient for the disease. In individuals with a positive genetic result who have symptoms or risk factors, healthcare providers may recommend antibody testing (tTG-IgA) and, if warranted, intestinal biopsy to determine whether active celiac disease is occurring.
| Population | Reference Range | Notes |
|---|---|---|
| General Population | Positive or Negative for HLA-DQ2 and HLA-DQ8 | Approximately 30% of the population carries these variants |
Reference ranges may vary by laboratory and individual factors. Results should be interpreted by a healthcare provider in the context of your overall health.
What does a “Low” result mean?
A negative result for both HLA-DQ2 and HLA-DQ8 means celiac disease can be ruled out with approximately 99% certainty. This is because nearly all individuals with celiac disease carry at least one of these genetic variants. The absence of both genes makes celiac disease highly unlikely, providing reassurance for individuals concerned about their risk.
What does a “High” result mean?
A positive result indicates the presence of HLA-DQ2 and/or HLA-DQ8 genetic variants, which are necessary but not sufficient for celiac disease development. While this means an individual has the genetic predisposition for celiac disease, it does not confirm the presence of the disease. The risk of developing celiac disease may be up to 50 times higher than the general population, but most people with these genetic variants never develop the disease.
Privacy & confidentiality
All genetic test results are completely confidential and protected under HIPAA regulations. Results are not shared with your personal doctor unless specifically requested, not added to your medical records, and do not appear on insurance explanation of benefits statements.
Frequently asked questions
Related tests
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Last reviewed: April 2026
CPT Code: 81382
This test may not be available in: NY, NJ, RI
This page is for informational purposes only and does not constitute medical advice. Always consult with a healthcare provider regarding any health concerns. LevelPanel does not diagnose, treat, or prescribe.
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LevelPanel has no business or affiliate relationship with Quest or LabCorp. These links are provided as a public service.
Lab testing services linked from this site are not available to residents of Alaska, Arizona, or Hawaii, unless otherwise noted on the lab's own website.
This publication is not intended to solicit the purchase of laboratory testing from any individual consumer.
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