Point-Of-Care Tool Diagnoses Genetic Mutations within Hours

By LabMedica International staff writers
Posted on 07 Feb 2024

Image: The point-of-care kit is designed to diagnose genetic mutations (Photo courtesy of University of Calgary)

Blood disorders like sickle cell anemia arise from genetic mutations. Typically, newborns are screened for sickle cell disease at birth, with any irregularities reported within 96 hours. However, a follow-up blood test is necessary to confirm the diagnosis, and obtaining these results can take between two to four weeks. Often, seeking genetic analysis through specialized private laboratories can be both time-consuming and expensive. Now, a new tool can detect the presence of genetic mutations within hours instead of weeks.

Researchers at the University of Calgary (Alberta, Canada) have created a system named One-pot DTECT. This innovation is designed for simplicity and ease of use, enabling any laboratory in the world to quickly set up its own kit for same-day genetic mutation analysis at a minimal cost per sample. One-pot DTECT comprises multiple enzymes and distinct DNA fragments that work together to identify and detect genetic signatures. The compact kit includes a small metal box containing 16 vials filled with DNA fragments and an additional two vials of enzymes. This versatile kit is capable of diagnosing a broad spectrum of genetic mutations associated with various disorders, including sickle cell anemia and cystic fibrosis.

Beyond diagnosing patients, the kit is useful for routine laboratory experiments and identifying genetic mutations. The test’s accuracy has been validated, enabling direct analysis from the original blood spot with results available within hours. Discussions are underway with several companies for commercial distribution of the kits. However, the technology is simple and cost-effective, allowing laboratories to easily produce their own kits. The process simply requires specific DNA fragments for sequencing and the necessary enzymes, which are readily available from suppliers.

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University of Calgary