Description

Celiac Disease is an autoimmune disorder that damages the small intestine when gluten is consumed. Symptoms include weight loss, vomiting, chronic fatigue, and iron deficiency anemia. 

Celiac disease (CD) genotype PCR is a test that uses polymerase chain reaction (PCR) to detect HLA alleles associated with CD in a person's blood or saliva: 

Purpose

  • The test can help identify a genetic predisposition for CD and rule out the disease in some cases. 

How it works

  • The test amplifies DNA from a blood or saliva sample and then uses specific primers and a fluorescent dye to detect the presence of HLA alleles. 

What it looks for

  • The test looks for the presence of HLA-DQ2 and HLA-DQ8, as well as specific DQA1 and DQB1 variants. The HLA-DQB1*02 allele is the strongest genetic predictor of CD, and is present in 90–95% of CD patients. 

Results

  • A negative result for both HLA-DQ2 and HLA-DQ8 almost always rules out CD. A positive result for either HLA-DQ2 or HLA-DQ8 may indicate CD, but it doesn't necessarily confirm it. 

Fasting not required.