Genetic examination of lactose intolerance.

The partial or total inability of the digestive tract to process lactose, ie milk sugar, is very common today.

Analysis methods Availability Number of genes Test code Retail Price
PCR 3 – 4 weeks GHC 028 £ TBA

Detailed information

The human digestive tract does not absorb lactose, but it can split it into smaller parts and then use it later. This is not possible, however, when the enzyme lactase, which has the lactose cleavage, is missing. Uncooked and unabsorbed sugar then progresses through the digestive tract further and causes problems such as diarrhoea, bloating, or abdominal cramps.

Lactose intolerance exists in three different forms - congenital, primary and secondary. After the third year of life, when there is a genetically determined decrease in lactase activity, the primary deficit of this enzyme appears most frequently. Due to the availability of genetic tests, patients do not need to undergo an unpleasant procedure of small intestine biopsy, which is the only method of direct measurement of lactose activity.

Examination is appropriate if:

  • you have experienced some of the clinical signs (malnutrition, slow weight gain) and at least one of the other criteria
  • your result was positive from a small intestine biopsy specimen,
  • lactose tolerance test or hydrogen breath test
  • lactose intolerance occurred in your family
  • you have experienced osteoporosis at younger age or bone loss (in postmenopausal women)
  • you want to diagnose the form (type) of lactose intolerance

Who is the test suitable for?

The mutation of this gene is inherited from 20%, so it is mainly recommended to people with this disease in a family.

How does the test work?

Genetic examination is performed from your DNA, which can be obtained by swabbing from the oral cavity (buccal wiping of the inside of your mouth cheek - DNA isolation from oral mucosal cells). You can take the sample yourself in the comfort of your home and send it to our lab, or have your collection taken by your GP.

How is the test done?

You can order the test from attending your Doctor/GP, private clinic or online at ghcgenetics. Once you have signed the informed consent form, either a swab of your mouth will be taken or a blood sample will be collected. Once the genetic analysis is finished, you or your Doctor/GP will receive a report with the results and based on these he/she will recommend suitable preventive measures.