Genetically-Caused Lactose Intolerance

Test covered by the reimbursement:
YES
Clinical expertise code:
208, 105, 207
Test without reimbursement:
YES
Gender:
Woman/Man
Material:
Peripheral blood, Isolated DNA from blood
Turnover time:
4 weeks

Material:

Peripheral blood | 1x 3 ml of whole blood in K3 EDTA tube
Storage after examination: week after the report is issued 2 – 8°C
Isolated DNA from blood | 10–100 ng/μL of isolated DNA from blood in a PCR tube of at least 15 μL.
Storage after examination: stored in a DNA archive without restriction 15°C
Buccal swab | 2x swab stick for buccal swab collection
Storage after examination: week after the report is issued 2 – 8°C

Quick test description:

The test examines two variants, c.-13910T/C (rs4988235) and c.-22018A/G (rs182549), in the regulatory region of the LCT gene, which codes for the lactase enzyme that is essential for digesting milk sugar (lactose). Adults with the CC/GG genotype often experience digestive problems with milk sugar—this is known as lactose intolerance.

Test details:

The test examines two variants, c.-13910T/C (rs4988235) and c.-22018A/G (rs182549), in the regulatory region of the LCT gene, which codes for the lactase enzyme that is essential for digesting milk sugar (lactose). Adults with the CC/GG genotype often experience digestive problems with milk sugar—this is known as lactose intolerance.

The examination is performed using the Real-Time PCR method, which detects both mentioned polymorphisms/mutations in the LCT gene using a pair of fluorescently-labeled probes (allelic discrimination). The methods used have a 99.9% sensitivity and specificity.