First POC Genetic Test Diagnoses Lactose Intolerance Near Patient in Less Than 90 Minutes

Lactose intolerance is a medical condition marked by difficulty in digesting lactose due to reduced activity or synthesis of the enzyme lactase, which breaks down lactose into its basic sugars. A specific genetic variant called the −13910 C/T single nucleotide polymorphism within the MCM6 gene is linked to lactase persistence or non-persistence traits in the Caucasian population. Diagnosing lactose intolerance is crucial for implementing dietary adjustments or appropriate treatments. Now, a new point-of-care isothermal lab-on-phone lactose intolerance assay rapidly diagnoses primary lactose intolerance using direct buccal swabs or capillary blood samples with high accuracy and at low cost.

STAB VIDA (Caparica, Portugal) has developed an isothermal lab-on-phone lactose intolerance CE-IVD (In Vitro Diagnostic) marked point-of-care diagnostic assay called STAB VIDA Lda which is based on the loop-mediated isothermal amplification (LAMP) methodology followed by mutation probe-based melting curve analysis. The assay is automatically processed in real time using the Doctor Vida system, an inexpensive and portable device controlled through a user-friendly mobile app. This CE-IVD portable, handheld device facilitates isothermal nucleic acid amplification for a wide range of genetic biomarkers. Combining efficiency, accuracy, and affordability, this compact lab-on-phone lactose intolerance detection assay can prove highly valuable in managing symptoms for individuals with lactose intolerance. Moreover, it differentiates between primary and secondary forms of hypolactasia, with the former arising from genetic mutations in the enhancer region and the latter resulting from small intestine damage.

Image: Portable pocket-sized lab-on-phone device for diagnosis of lactose intolerance (Photo courtesy of STAB VIDA)

In a study, researchers evaluated the POC isothermal lab-on-phone lactose intolerance assay using buccal swabs and capillary blood samples, comparing its performance with the Sanger sequencing assay that examined the -13,910 C/T SNP in blood samples. The assay's detection limit was also determined across different sample concentrations. The findings showed that the STAB VIDA Lda isothermal lactose intolerance assay effectively identified the -13910 C/T SNP with a limit of detection of five cells per assay, achieving 98.41% accuracy for buccal swabs and 100% accuracy for capillary blood samples. The entire process, from sample collection to result retrieval, was completed in just 90 minutes, with merely two minutes of hands-on time. The detection limit achieved by the STAB VIDA Lda assay was comparable to established gold-standard methods like Sanger sequencing and PCR-based assays.

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