Molecular Genetic Testing
Lactose Intolerance

Indication and Diagnostic Value

Lactose intolerance caused by a deficiency of the enzyme lactase represents one of the most common genetically caused enzyme deficiencies worldwide. A single mutation in the lactase gene prevents cleavage of lactose. Consequently, lactose accumulates in the colon where it is partially metabolized by colon bacteria. The fermentation products cause various symptoms such as flatulence, meteorism of bellyache.
The genetic test is the only way to distinguish between a primary lactase deficiency (genetically caused) and a secondary cause, which is diagnosed by a biochemical analysis. Contrary to the secondary form of lactose intolerance, which is usually temporarily, the primary form requires a life long lactose-free diet.

Samples and Test Method

IMMD blood stain test paper is required. The PCR based test includes an enzymatic cleavage and electrophoretic analysis of DNA fragments harboring the mutation C/T at position –13910 of the LCT gene.

Turnaround time for this test is 10 days.

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