Researchers have developed a portable device capable of detecting rare genetic mutations from a single drop of blood. The instrument was shown in lab experiments to quickly and accurately test for a genetic condition called hereditary transthyretin amyloidosis, which can cause heart problems. The disease is caused by a genetic mutation in the transthyretin gene. This mutation can lead to heart failure, especially in people of West African ancestry. The device, which amplifies nucleic acid segments and detects mutations using a microchip aims to bring a device equal to the performance and accuracy of a polymerase chain reaction (PCR) test, typically confined to laboratories, into doctors’ offices, homes, and community centers.
The device resembles a PCR test but is more portable and quicker, yielding results within 10 minutes, according to the researchers, adding that the technology aims for rapid, point-of-care mutation detection. The new test combines a technique called allele-specific polymerase chain reaction (ASPCR), with electrical impedance, which measures how the DNA samples affect the flow of electricity in microfluidic chips. These tiny chips, which can handle small amounts of liquid and measure electrical charges, differentiate DNA sequences from blood samples. (Image credit: Mahtab Kokabi/Javanmard)
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