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Understanding Your Results

Find out if you are affected or a carrier

Find out if you are at risk - get tested
TEST TESTING TIME PRICE
DNA Celiac Disease Test 2 to 4 weeks
$249 USD

Understanding Your Results

The possible results obtained after DNA testing are as follow:

Negative, no celiac disease-associated alleles detected

If an individual has tested negative for all of the celiac disease-associated alleles (HLA-DQA1*05, HLA-DQB1*02 and HLA-DQB1*0302), then a diagnosis of celiac disease can essentially be excluded. An absence of celiac disease-associated alleles reduces the lifetime risk of developing celiac disease to well below 0.04%, independent of diet. Individuals who test negative for celiac disease-associated alleles will not pass a celiac disease-associated allele to the next generation.

Positive, celiac disease-associated alleles detected

If an individual has tested positive for one or more than one copies of the celiac disease-associated alleles HLA-DQA1*05, HLA-DQB1*02 and HLA-DQB1*0302, or heterodimers DQ2 and DQ8, then a diagnosis of celiac disease cannot be ruled out. Relatives of individuals who have tested positive for one or more celiac disease-associated alleles are also at risk for being positive. The presence of the celiac disease-associated alleles implies an increased risk for celiac disease, but is not diagnostic of celiac disease as only a subset of individuals with these alleles will develop celiac disease. The estimated risk for developing celiac disease for each genotype is listed in the table below:

Patient Genotype (Celiac disease-associated alleles) Celiac Disease Risk*
DQ2 and DQ81:7
DQ2 and Homozygous HLA-DQB1*021:10
DQ2 and DQ21:10
DQ8 and DQ81:12
DQ8 and HLA-DQB1*021:24
Homozygous HLA-DQB1*021:26
DQ21:35
DQ81:89
Heterozygous HLA-DQB1*021:210
Heterozygous HLA-DQA1*051:1842

* Megiorni F, et al. HLA-DQ and risk gradient for celiac disease. Hum Immunol. 2009; 70: 55-59.