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:
- Constipation and/or diarrhea
- Appetite changes
- Pale or bloody stools
- Nausea and vomiting
Other symptoms of celiac disease can include:
- Depression and anxiety
- Muscle cramps and joint pain
- Growth delays
- Mouth ulcers
- Skin rashes
- Hair loss