Why undergoing this examination?

Lactose, the main sugar in milk, is hydrolyzed in the body through an enzyme called lactase, giving rise to glucose and galactose, which are absorbed in the intestine. 

Individuals with a deficiency of the lactase enzyme in the intestinal mucosa (hypolactasia) do not hydrolyze lactose properly, producing the characteristic symptoms of lactose intolerance. In most individuals, the ability to digest lactose decreases after the breastfeeding period due to a gradual decrease in the expression of the LCT gene, which is regulated by the MCM6 gene. 

Some individuals have variations in this gene that maintain the production of intestinal lactase, allowing them to maintain the ability to digest milk and dairy products appropriately throughout life. 

What is this exam?

The Lactose Test involves the genetic analysis of the patient’s DNA to determine the presence of variants in the MCM6 gene associated with the development of lactose intolerance in adulthood. The test is performed through the amplification and subsequent sequencing of the fragments of interest. 

For whom is it indicated?

• Evaluation of hypolactasia in adults with clinical symptoms of lactose intolerance: abdominal pain and bloating, gas, and diarrhea. 
• Clinical suspicion of lactose intolerance. 

Technology

Sanger sequencing.