Celiac disease is caused by excessive stimulation of the body's immune system after exposure to gluten in susceptible people. While some people have no symptoms, other people with celiac disease may have symptoms such as diarrhea, abdominal cramping, bloating and weight loss. Confirmatory diagnosis is based on identifying damage to the lining of the intestines after a biopsy and pathologic evaluation.
Specific types of genetic variations in the human leukocyte antigen (HLA) class II alleles (HLA-DQ region) predispose one to celiac disease. HLA molecules are thought to stimulate the immune system's T-cells to lead to tissue destruction. Greater than 90% of people with celiac disease have the HLA-DQ2 heterodimer with the DQA1*05 and DQB1*02 alleles while a small percentage have the HLA-DQ8 heterodimer encoded by the DQA1*03 and DQB1*0302 alleles. First-degree relatives and people with other autoimmune conditions also seem to have increased risk.
The primary use of the celiac HLA-DQ lab test is to determine if one has or is genetically susceptible to celiac disease. Celiac genetic typing is helpful if one has had a biopsy with indeterminate results or before committing to a gluten-free diet. In other circumstances, celiac genetic testing may avoid the need for a biopsy in people who have a high likelihood of being positive.
This celiac genetic test utilizes a polymerase chain reaction (PCR) methodology to check for HLA-DQ2 and HLA-DQ8 variants. To get a celiac disease genetic test at a Quest Diagnostics lab near you, click the button above, complete the medical information questionnaire, select a lab and pay for your blood test. Once your celiac genetic lab test request is submitted, Push Health will immediately contact licensed medical providers in your state of residence to see if one is willing to approve the test. In almost every case, a licensed provider will approve the celiac test for you and it generally happens within one hour or less. Assuming your celiac genetic test is approved, you will need to take the lab order to your selected Quest Diagnostics lab and get your blood drawn. Once your celiac HLA-DQ2 and HLA-DQ8 lab report is available, the ordering provider will review it and release it to you where your celiac genetic test results will be accessible in your Push Health account. This celiac test will report a positive or negative lab results for HLA-DQ2 and -DQ8 and specific DQA1 and DQB1 variants detected to determine zygosity.
Celiac lab results that are negative for both HLA-DQ2 and HLA-DQ8, in most cases, will exclude the diagnosis of celiac disease and the possibility of getting it in the future. A positive DQ2 or DQ8 lab result, particularly when found with suspicious biopsy results, is typically considered positive for celiac disease. However, the clinical context must be considered as more than a quarter of people in the United States will have some positive results on this celiac test.
Last updated October 25, 2017. Given the evolving nature of medicine, this information might not be accurate and should not be construed as medical advice or diagnosis / treatment recommendations. Please consult a licensed medical provider if you have additional questions.