3270. PCR. Genetics. Lactose intolerance (13910 T>C, buccal scraping)

Genetic testing to identify the 13910 T>C polymorphism, which is associated with primary (hereditary) lactose intolerance – a condition in which lactase enzyme activity decreases with age, reducing the body’s ability to digest the milk sugar lactose.

The test is performed using a buccal swab (a sample collected from the inner cheek). This is a simple, non-invasive, and painless method of collecting biological material that is suitable for both children and adults.

Lactose intolerance is a congenital or acquired inability of the body to digest lactose due to reduced or absent activity of the lactase enzyme in the small intestine. In most cases, this refers to genetic (primary) hypolactasia, which develops gradually with age, particularly after 2-5 years.

The 13910 T>C genetic marker in the regulatory region of the LCT (lactase) gene affects how long lactase enzyme activity is maintained:

• C/C genotype – high risk of developing lactose intolerance;
• T/C genotype – intermediate lactase activity;
• T/T genotype – preserved lactase activity (normal).

The test helps distinguish the primary (genetic) form from secondary hypolactasia, which may develop as a result of:

• intestinal infections;
• celiac disease;
• inflammatory bowel diseases, such as Crohn’s disease.

Testing for lactose intolerance (LCT gene, 13910 T>C polymorphism) is recommended for:

• Children aged 1.5 years and older with symptoms of dairy intolerance, such as bloating, abdominal pain, or diarrhea.
• Adults with signs of poor milk tolerance, especially when symptoms become more pronounced with age.
• Patients with irritable bowel syndrome (IBS), celiac disease, or Crohn’s disease – to help differentiate secondary hypolactasia.
• Individuals with suspected genetic predisposition to lactose intolerance or a relevant family history.
• To support the decision to switch to a lactose-free diet.
• As an additional test when assessing susceptibility to osteoporosis, particularly due to potentially insufficient calcium intake or absorption.

• Scrapes from various sites depending on the test

In the case of taking the biomaterial in the Synevo lab center, you will be offered...