HLA - Celiac Disease (DR-DQB1-DQA1 Haplotype Association including DQ2DQ8) Test
Short Name: HLA Celiac Disease Test
Also known as: Celiac Disease Genetic Test, HLA DQ2/DQ8 Typing Test, Celiac Haplotype Association Test, HLA Celiac Risk Panel, Celiac Disease Susceptibility Test
HLA - Celiac Disease (DR-DQB1-DQA1 Haplotype Association including DQ2DQ8) Test test available at DNA Labs India for ₹8,000. Uses SSP - PCR (Sequence-Specific Primer – Polymerase Chain Reaction) on Whole Blood (EDTA or ACD) samples. Results in Results are typically available within 7 business days of sample receipt at the laboratory. Digital reports can be accessed via the DNA Labs India online portal, email, or WhatsApp.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The primary purpose of the HLA Celiac Disease (DQ2/DQ8) Test is to detect genetic susceptibility to celiac disease by identifying HLA-DQ2 and HLA-DQ8 haplotypes. This test serves as a highly reliable negative predictor: individuals who test negative for both DQ2 and DQ8 have an extremely low probability of developing celiac disease. It is commonly used to screen first-degree relatives of diagnosed celiac patients, to support diagnostic workups in individuals with ambiguous serological results, and to evaluate patients on a gluten-free diet who lack a confirmed diagnosis.
- Test Code
- 790
- ICD Code
- K90.0
- Price
- ₹8,000
- Sample Type
- Whole Blood (EDTA or ACD)
- Result Time
- Results are typically available within 7 business days of sample receipt at the laboratory. Digital reports can be accessed via the DNA Labs India online portal, email, or WhatsApp.
- Fasting Required
- No
- Method
- SSP - PCR (Sequence-Specific Primer – Polymerase Chain Reaction)
Sample Collection
No special preparation such as fasting or dietary modification is required before sample collection. Stay well-hydrated and inform the phlebotomist of any recent blood transfusions.
Method: Venipuncture
Laboratory Analysis
A trained phlebotomist will collect approximately 4 mL of venous blood from a vein in your arm using standard venipuncture technique. The process typically takes less than 5 minutes.
Report Delivery
After blood collection, gentle pressure will be applied to the puncture site with cotton wool or a bandage. Minor bruising may occur and typically resolves within a few days. No activity restrictions are required.
Timeline: Results are typically available within 7 business days of sample receipt at the laboratory. Digital reports can be accessed via the DNA Labs India online portal, email, or WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the HLA Celiac Disease (DQ2/DQ8) Test is to detect genetic susceptibility to celiac disease by identifying HLA-DQ2 and HLA-DQ8 haplotypes. This test serves as a highly reliable negative predictor: individuals who test negative for both DQ2 and DQ8 have an extremely low probability of developing celiac disease. It is commonly used to screen first-degree relatives of diagnosed celiac patients, to support diagnostic workups in individuals with ambiguous serological results, and to evaluate patients on a gluten-free diet who lack a confirmed diagnosis.
How to Prepare
- Collect 4 mL (minimum 3 mL) whole blood in 1 Lavender Top (EDTA) tube
- Alternatively, collect 6 mL (minimum 3 mL) whole blood in 1 Yellow Top (ACD) tube
- Gently invert the tube 8–10 times to mix anticoagulant
- Ship the sample refrigerated (2–8°C); do NOT freeze the sample
- Label the tube clearly with patient name, date, and time of collection
- Ensure sample reaches the laboratory within 96 hours of collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"The HLA-DQ2/DQ8 test is an invaluable first step in evaluating celiac disease risk, especially in first-degree relatives of diagnosed patients and in individuals with inconclusive serology. A negative result for both DQ2 and DQ8 essentially rules out celiac disease with a negative predictive value exceeding 99%. However, a positive result only indicates genetic susceptibility—not active disease—and must be interpreted alongside serological markers such as anti-tTG IgA and, when indicated, duodenal biopsy findings. Clinicians should use this test in the context of a comprehensive diagnostic workup rather than in isolation."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Sample collected in incorrect tube type (non-EDTA/non-ACD)
- Insufficient sample volume (less than 3 mL)
- Frozen sample
- Sample older than 96 hours at time of receipt
- Unlabeled or mislabeled sample
Understanding Your Results
DQ2 and/or DQ8 Detected (Positive)
The individual carries one or more HLA haplotypes (DQ2.5, DQ2.2, or DQ8) associated with an increased genetic risk of celiac disease. This indicates susceptibility but does not confirm active disease. Approximately 30–40% of the general population may carry these alleles without ever developing celiac disease. Further evaluation with anti-tTG IgA, anti-endomysial antibody testing, and possibly small intestinal biopsy is recommended.
Clinical action: Discuss results with a gastroenterologist. Serological testing for celiac-specific antibodies and clinical correlation are advised.
DQ2 and DQ8 Not Detected (Negative)
The absence of both DQ2 and DQ8 haplotypes makes celiac disease extremely unlikely, with a negative predictive value exceeding 99%. Celiac disease can be effectively excluded in most clinical scenarios.
Clinical action: Celiac disease is unlikely. If symptoms persist, your physician may investigate other causes of gastrointestinal complaints.
DQ2.5 Homozygous
The individual carries two copies of the DQ2.5 haplotype, which is associated with a higher relative risk and potentially more severe disease phenotype compared to heterozygous carriers.
Clinical action: Close monitoring and comprehensive celiac serology panel recommended. First-degree relatives should also consider genetic screening.
Consult your doctor if you experience persistent digestive symptoms such as chronic diarrhea, bloating, abdominal pain, unexplained weight loss, fatigue, iron-deficiency anemia, or if you have a family history of celiac disease. If your genetic test is positive for DQ2 or DQ8, follow up with a gastroenterologist for serological confirmation and further evaluation. If you are already on a gluten-free diet and your symptoms have not improved, a physician consultation is advised to reassess your diagnosis and dietary compliance.
Limitations
- ⚠This test detects genetic susceptibility only and does not confirm active celiac disease
- ⚠Approximately 30–40% of the general population carries DQ2 or DQ8 without developing celiac disease
- ⚠This test cannot determine disease severity, stage, or response to a gluten-free diet
- ⚠Rare celiac disease cases negative for both DQ2 and DQ8 may not be detected by this assay
- ⚠Results must be interpreted in conjunction with clinical findings, serological markers, and histopathology
Risks & Considerations
- ●Minor bruising or swelling at the venipuncture site
- ●Brief pain or discomfort during needle insertion
- ●Rare: lightheadedness or dizziness during or after blood draw
- ●Extremely rare: infection at the puncture site
Interfering Factors
- ●Recent blood transfusion within the past 3–6 months may affect HLA typing accuracy
- ●Hemolyzed or improperly stored samples may yield unreliable results
- ●Bone marrow transplant recipients may show donor HLA type rather than the patient's own genotype
Compare With Similar Tests
| Test | HLA - Celiac Disease (DR-DQB1-DQA1 Haplotype Association including DQ2DQ8) Test | Anti-Tissue Transglutaminase (tTG) IgA Antibody Test | Anti-Endomysial Antibody (EMA) IgA Test | Deamidated Gliadin Peptide (DGP) IgG/IgA Test | Small Intestinal Biopsy (Gold Standard) |
|---|---|---|---|---|---|
| Comparison | HLA - Celiac Disease (DR-DQB1-DQA1 Haplotype Association including DQ2DQ8) Test |
Frequently Asked Questions
What is the HLA Celiac Disease (DQ2/DQ8) Genetic Test?
Who should get the HLA Celiac Disease Test?
What do the DQ2 and DQ8 results mean?
Does a positive HLA test mean I have celiac disease?
What type of sample is required for this test?
How long does it take to get the results?
Is fasting required before this test?
Can this test be done at home?
How much does the HLA Celiac Disease Test cost?
How accurate is the HLA typing test for celiac disease?
Can children undergo this HLA Celiac Disease Test?
What should I do if my test results are positive for DQ2 or DQ8?
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