Lactose intolerance and genetic testing
A genetic test is now available to assist in the diagnosis of lactose intolerance in both children and adults.
- Lactose intolerance affects approximately 75% of the population.
- Genetic testing can confirm lactose tolerance (also referred to as lactase persistence).
- The test differentiates between primary lactose intolerance, due to lactase deficiency, and secondary causes of lactose intolerance, due to other more serious conditions that affect the small bowel.
- The test is not affected by intercurrent illness and can be performed non-invasively on patients of all ages.
The test only needs to be performed once during a person’s lifetime.
How does the test work?
Testing is now available to detect the genetic variant (LCT-13910C>T) that accounts for close to 100% of lactase persistence in Europeans. Three other genetic variants that have a similar effect and are more common in non-European populations are also detected.
These variants are thought to act as enhancers of the lactase gene that in turn stimulates lactase production.
When one ...