BlueCross BlueShield of Tennessee Medical Policy Manual

Genetic Testing for Lactase Insufficiency

Does Not Apply to Commercial Genetic Testing Program effective 6/1/2018


Genetic testing of adults with suspected lactase insufficiency is proposed as an alternative to current diagnostic practices, which include hydrogen breath test, lactose tolerance blood test, and intestinal biopsy. Targeted genetic testing for the -13910C>T variant in individuals who have suspected lactase insufficiency is to inform a decision whether to undergo one of these diagnostic tests.

Lactase is an enzyme necessary for the digestion of the sugar lactose found in dairy products. An insufficiency of lactase results in the malabsorption of lactose which may lead to symptoms of lactose intolerance such as abdominal pain, bloating, diarrhea and increased flatulence which are caused by bacterial fermentation of undigested lactose in the colon. Dietary restriction as the primary treatment for lactase insufficient individuals is adequate in most circumstances. These individuals who achieve satisfactory symptom control following dietary modifications do not require further diagnostic testing; however, for the majority of individuals who do not achieve symptom control following dietary modifications, further diagnostic testing is indicated for the presence of other conditions that might cause symptoms similar to lactase deficiency.




Direct evidence for the clinical utility of genotyping for lactase insufficiency is lacking. Meaningful improvements in health outcomes through the use of genotyping for lactase insufficiency have not been demonstrated.  


BlueCross BlueShield Association. Evidence Positioning System. (5:2018). Genetic testing for lactase insufficiency (2.04.94). Retrieved December 12, 2018 from https://www.evidencepositioningsystem/.  (39 articles and/or guidelines reviewed)

Mattar, R., Basile-Filho, A., Kemp, R., & Santos, J.S. (2013). Comparison of quick lactose intolerance test in duodenal biopsies of dyspeptic patients with single nucleotide polymorphism LCT-13910C>T associated with primary hypolactasia/lactase-persistence. Acta Cirurgica Brasileira, 28 Suppl1, 77-82. Abstract retrieved February 20, 2018 from PubMed database.

Misselwitz, B., Pohl, D., Frühauf, H., Fried, M., Vavricka, S., & Fox, N. (2013). Lactose, malabsorption and intolerance: pathogenesis, diagnosis and treatment. United European Gastroenterology Journal, 1 (3), 151-159. (Level 5 evidence)

Santonocito, C., Scapaticci, M., Guarino, D., Annicchiarico, E.B., Lisci, R., Penitente, R., et al. (2015). Lactose intolerance genetic testing: is it useful as routine screening? Results on 1426 south-central Italy patients. Clinica Chemica Acta, Jan 15 2015, 439, 14-17. Abstract retrieved December 12, 2018 from PubMed database.




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