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Lactose intolerance

Kits: EliGene® Lactose intolerance RT (ref: 90092-RT)
Package size:
 50 reactions
Analytical specificity: C-13910T and G-22018A polymorphisms located in MCM6 gene
Specimens: blood, buccal swab
Compatible instruments:
 Quant Studio 5 (Thermofisher Scientific), CFX96 Touch Real-Time PCR Detection Systém (Bio-Rad)
CE certification: yes
Detection technology: TaqMan probes
Clinical study description and results:
EliGene® Lactose intolerance RT kit specificity was tested using 31 samples of human DNA analyzed by reference method, when 8 samples were positive for the risk genotype. 100 % agreement was achieved when comparing the test results.
Specificity: 100 %
Description:
In clinical laboratories, patients with lactose intolerance are routinely tested for the presence of single nucleotide polymorphisms C-13910T and G-22018A found in the MCM6 gene, which were associated with genetically determined lactose intolerance encompassing decreased lactase production. Genotyping of these polymorphisms allows to differentiate between lactose intolerance caused by genetic predispositions and that caused by secondary effects. Genotyping test facilitates fast and routine analysis of the above-mentioned polymorphisms in a large number of samples. EliGene® Lactose intolerance RT kit provides right results also within patients carrying the C-13907G, T-13913C, G-13914A and T-13915G mutations.
References:

Ridefelt P, Håkansson LD. 2005. Lactose intolerance: lactose tolerance test versus genotyping. Scand J Gastroenterol. 40(7):822-6.

Bulhões AC, Goldani HA, Oliveira FS, Matte US, Mazzuca RB, Silveira TR. 2007. Correlation between lactose absorption and the C/T-13910 and G/A-22018 mutations of the lactase-phlorizin hydrolase (LCT) gene in adulttype hypolactasia. Braz J Med Biol Res. 40(11):1441-6.

Tomczonek-Moruś J, Wojtasik A, Zeman K, Smolarz B, Bąk-Romaniszyn L. 13910C>T and 22018G>A LCT gene polymorphisms in diagnosing hypolactasia in children. United European Gastroenterol J. 2019;7(2):210-216.

Friedrich, D. C., Santos, S. E. B., Ribeiro-Dos-Santos, Â. K. C., Hutz, M. H., Crawford, D. C., 2012. Several Diff erent Lactase Persistence Associated Alleles and High Diversity of the Lactase Gene in the Admixed Brazilian Population. PLoS ONE. 7(9).