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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What this test measures
This genetic test identifies specific variants of human leukocyte antigen (HLA) genes called HLA-DQ2 and HLA-DQ8. These genes are part of the immune system and encode proteins that play a crucial role in presenting antigens to immune cells. Approximately 90-95% of individuals with celiac disease possess the HLA-DQ2 gene variant, while HLA-DQ8 is found in most of the remaining celiac patients who do not carry HLA-DQ2.
While about 30% of the general population carries these genetic variants, only approximately 1% develop celiac disease, indicating that additional factors are involved in disease development. The test is particularly valuable because if an individual does not have either of these genetic markers, celiac disease can be ruled out with approximately 99% certainty. If these genetic markers are present, it indicates a person may be at risk for developing celiac disease but does not guarantee they will develop the condition.
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 an individual carries the HLA-DQ2 and/or HLA-DQ8 genetic variants associated with celiac disease risk. The test provides a clear positive or negative result for each genetic marker.
| 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
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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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Not sure if this is the right test? Contact our care team for guidance.