Genetic Testing Device Detects Rare Mutations

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.