Lactose intolerance and genetic testing

A genetic test is now available to assist in the diagnosis of lactose intolerance in both children and adults.

Key points

  • 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 ...

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