Portable Device Detects Rare Genetic Mutations in Just One Drop of Blood
Rutgers engineers develop a portable device that quickly detects genetic mutations from a single drop of blood.
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A team of engineers led by Rutgers University–New Brunswick has developed a portable device that can detect rare genetic mutations from just one drop of blood. The device was shown in laboratory tests to quickly and accurately identify mutations linked to hereditary transthyretin amyloidosis, a genetic condition that can cause heart problems.
The results, published in Communications Engineering, suggest that the device could one day provide a fast and accessible way to screen for genetic mutations in clinical settings.
Hereditary transthyretin amyloidosis is caused by mutations in the transthyretin gene. These mutations can lead to the buildup of abnormal proteins, which may result in heart failure, particularly among individuals of West African ancestry. Early detection is important because treatments are available that can slow disease progression.
Bringing laboratory testing to the point of care
Traditional genetic tests can take days or weeks to provide results, requiring samples to be sent to specialized laboratories. In contrast, the new device delivers results in about 10 minutes. It combines a technique called allele-specific polymerase chain reaction (ASPCR) with electrical impedance detection on a microchip.
Allele-specific polymerase chain reaction (ASPCR)
ASPCR is a technique used to detect specific genetic mutations. It is a variant of polymerase chain reaction (PCR) that can amplify only DNA segments carrying the mutation of interest.
Electrical impedance
Electrical impedance measures how a material resists the flow of electricity. In this device, it is used to distinguish DNA sequences based on how they alter electrical signals in a microfluidic chip.
The project was developed in collaboration with researchers at Yale University. The goal is to create a device that performs with the accuracy of laboratory-based polymerase chain reaction (PCR) tests but can be used in doctors’ offices, community centers and even homes.
PCR is widely used to amplify segments of DNA, making it possible to detect specific genetic sequences. ASPCR is a specialized version of this technique that targets specific mutations. In this new approach, amplified DNA segments are analyzed on microfluidic chips, which detect differences in how the DNA affects the flow of electricity.
Microfluidic chip
A microfluidic chip is a small device with channels that can handle tiny volumes of liquid. These chips can be used to analyze biological samples by controlling the flow of liquids through microscale circuits.
Testing the technology
The researchers tested their device on samples from six patients. The method accurately identified which patients carried mutations in the transthyretin gene.
Future development will focus on increasing the sensitivity and specificity of the test and expanding its capabilities to detect multiple mutations in a single test. The researchers aim to create a diagnostic tool capable of screening for a broad range of genetic diseases from a single blood sample.
Point mutations, in which a single base pair in DNA is altered, are a common cause of genetic diseases such as sickle cell anemia, hemophilia and some cancers. The team hopes the adaptability of ASPCR, combined with the flexibility of microfluidic chip technology, will enable detection of many different mutations.
Toward integrated testing
Currently, the ASPCR step is performed separately from the microchip analysis. The team is working to integrate both the amplification and electrical detection steps onto a single chip. This would make the system fully self-contained and even more suitable for portable, point-of-care use.
The researchers said that the combination of ASPCR and microfluidic chip technology holds potential for a wide range of diagnostic applications. In the future, such systems could support more accessible and cost-effective genetic testing.
Reference: Tayyab M, Gandotra N, Sui J, Scharfe C, Javanmard M. Allele-specific electrical genotyping for diagnosis of transthyretin amyloidosis. Commun Eng. 2025;4(1):47. doi: 10.1038/s44172-025-00385-7
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