DNA Celiac Disease Test
This test detects genetic variants (alleles) that are associated with celiac disease. Nearly 100% of celiac-affected individuals carry one or more of these celiac-associated alleles in their HLA genes. Individuals who test negative for these celiac-associated alleles have almost no lifetime risk of developing celiac disease; hence this genetic analysis is a useful tool to exclude a possible celiac diagnosis.
The consumption of gluten is not needed for an accurate result from this genetic analysis, and a simple mouth swab DNA sample is all that is required.
What is celiac disease?
Celiac disease is an autoimmune disorder where the immune system attacks and destroys healthy cells by mistake. People with celiac disease have extreme sensitivity to gluten, a protein found in wheat, barley and oats. When a person with celiac disease consumes gluten, it is recognized by the immune system as a foreign substance. This initiates a cascade of events in the immune system. These events signal white blood cells (known as T-cells) to cause inflammation, resulting in the death of cells in the intestinal lining, and interfering with the normal absorption of nutrients.
Signs and symptoms of celiac disease
Celiac disease is hard to diagnose because it can include a wide variety of symptoms both digestive and non-digestive, and some celiac-affected individuals have no digestive symptoms at all.
The digestive symptoms of celiac disease commonly include:
- Flatulence
- Bloating
- Constipation and/or diarrhea
- Appetite changes
- Pale or bloody stools
- Nausea and vomiting
Other symptoms of celiac disease can include:
- Fatigue
- Migraines
- Irritability
- Depression and anxiety
- Muscle cramps and joint pain
- Growth delays
- Mouth ulcers
- Skin rashes
- Hair loss
- Anemia
- Seizures
Celiac disease is strongly associated with specific types or alleles of HLA-DQA1 and HLA-DQB1. These two genes encode two human leukocyte antigens, which are important components of the human immune system. The celiac-associated alleles are HLA-DQA1*05, HLA-DQB1*02 and HLA-DQB1*0302. Individuals that have one or more of these alleles have an increased risk of developing celiac disease. However, this is not a diagnostic test, as only a subset of people with these alleles will develop celiac disease. If these alleles are absent, the diagnosis of celiac disease can essentially be excluded, as there is a less than 0.04% chance of developing celiac disease in people that don’t have one or more of these at-risk alleles.
A simple DNA sequencing test can be completed to find out which alleles of HLA-DQA1 and HLA-DQB1 an individual has. This sequencing reaction identifies nucleotide changes that occur in the three celiac-associated alleles (HLA-DQA1*05, HLA-DQB1*02, HLA-DQB1*0302). Combinations of these celiac-associated alleles can also form heterodimers known as DQ2 and DQ8. The presence or absence of these celiac-associated alleles gives an indication of the risk of gluten sensitivity and celiac disease. If none of these celiac-associated alleles are present, the risk of celiac disease is extremely low. Find out if you are at risk and whether a gluten-free diet is necessary.
| Patient Genotype (celiac-associated alleles present) | Celiac Disease Risk |
| DQ2 and DQ8 | 1:7 |
| DQ2 and Homozygous HLA-DQB1*02 | 1:10 |
| DQ2 and DQ2 | 1:10 |
| DQ8 and DQ8 | 1:12 |
| DQ8 and HLA-DQB1*02 | 1:24 |
| Homozygous HLA-DQB1*02 | 1:26 |
| DQ2 | 1:35 |
| DQ8 | 1:89 |
| Heterozygous HLA-DQB1*02 | 1:210 |
| HLA-DQA1*05 | 1:1842 |
| No HLA celiac-associated alleles detected | Not at risk of developing celiac disease, less than 1:2518 |
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