Lactase test

Genetic test for lactose intolerance

Determination of the -13910 C/T lactase gene polymorphism [Enattah et al. Nature Genetics, 2002]

Lactose intolerance is caused by the absence/low quantity of lactase, the enzyme that allows our body to digest lactose (the main sugar found in milk and its derivatives). In the absence of proper digestion of lactose, this sugar ferments in the intestine causing a series of disorders, such as colics, cramps, bloating or diarrhea. Lactose intolerance is a very common disease in adults and very widespread in Italy and Europe (about 50-70% of the Italian population is characterized by genetic lactose intolerance). A correct diagnosis is therefore essential to improve our health and prevent annoying symptoms.

The MC Biotech lactase test allows to define the patient’s genetic predisposition to lactose intolerance, enabling the correction of his/her eating behavior. In particular, the genetic test allows to identify whether the patient has the T/T, T/C, or C/C genotype. The homozygous variant (C/C genotype), associated to a lower transcription of the gene and therefore to a reduced expression of the lactase enzyme, is correlated with lactose intolerance.

The lactase test is thus addressed to subjects with symptoms and/or familiarity. 
In particular:

  • People with symptoms such as bloating, meteorism, headache, abdominal pain/spasms, diarrhea, constipation, nausea, rash
  • Individuals with family cases of lactose intolerance or who suspect they are lactose intolerant

The MC Biotech test is fast and totally non-invasive. 
The genetic test is performed on a portable device, using the cells of the oral mucosa, by means of a buccal swab. The patient carries out a self-sampling of the biological specimen, rubbing a swab inside the oral cavity. The specimen must be taken with a clean mouth (it is recommended to drink a few sips of water before taking it), at least 20 minutes after eating or drinking. It’s a very simple, quick (<1 min) and completely painless procedure, also suitable for children, pregnant women, and hypersensitive patients.

Test execution
The test is simple and quick:

  • Pre-analytical phase: after sampling, the specialist inserts the patient’s buccal swab into a tube (P) provided in the kit (containing a DNA extraction buffer).
  • Reaction: after 5 min, a small specimen taken from the tube (P) is inserted with a pipette into the reaction tubes supplied in the kit. Then, the tubes are inserted in the housings of the MCBiotron portable device, following the simple instructions provided by the App.
  • Diagnostic result: after about one hour, the specialist receives a notification from the App about the availability of the diagnostic result of the test. The specialist does not have to interpret molecular diagnostic data or curves, and can immediately focus on the patient and the best therapeutic indication.

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