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Updated: Jun 28, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
[Lactose intolerance. Genotyping simplifies and improves diagnosis].
Else Marie Vestergaard1, Jesper Troelsen, Aksel Lange
1Klinisk Biokemisk Afdeling, Arhus Universitetshospital, Skejby, DK-8200 Arhus. else.marie.vestergaard@dadlnet.dk
Genetic testing for the LCT-13910C>T polymorphism is proposed as a primary diagnostic method for adult-type hypolactasia. This genotyping approach could replace traditional lactose tolerance tests for diagnosing lactose intolerance.
Area of Science:
- Molecular genetics
- Human genetics
- Gastroenterology
Context:
- Adult-type hypolactasia is a common condition characterized by reduced lactase enzyme activity.
- Diagnosis traditionally relies on lactose tolerance tests, which can be cumbersome.
Purpose:
- To review the molecular genetics of adult-type hypolactasia.
- To propose a novel diagnostic strategy.
Summary:
- Genotyping for the LCT-13910C>T polymorphism is presented as a reliable method for diagnosing adult-type hypolactasia.
- This genetic marker is strongly associated with lactase non-persistence.
Impact:
- Suggests genotyping as a first-stage diagnostic approach, potentially replacing lactose tolerance tests.
- Aims to simplify and improve the accuracy of hypolactasia diagnosis.
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