Quest Diagnostics Enhances Ataxia Testing with Innovative Gene Sequencing Service

On July 29, 2025, Quest Diagnostics Inc. (NYSE: DGX) announced a significant advancement in the testing of ataxia movement disorders through its specialty neurology division, Athena Diagnostics. The introduction of a novel laboratory-developed test aims to provide deeper insights into the genetic causes of ataxia, a group of progressive neurological disorders that severely impact coordination and movement.

Athena Diagnostics has rolled out a new laboratory test service designed to detect complex genetic sequences associated with ataxia disorders. Unlike conventional sequencing technologies that excel in deciphering short DNA sequences, this new test employs long-read gene sequencing to identify larger, repetitive DNA sequences that could be responsible for various forms of ataxia. This innovative approach promises to enhance the accuracy of confirmatory testing by identifying genetic anomalies that traditional methods often overlook.

The genetic underpinnings of ataxia often involve expansions of repeating sequences in specific genes, which may evade detection in standard genetic sequencing panels. The new service is positioned as a follow-up to initial screening results provided by polymerase chain reaction (PCR) testing. Healthcare providers can now order this advanced test directly from Athena Diagnostics, marking a significant step forward in neurological diagnostics.

Quest Diagnostics developed and validated this new testing service under a collaboration agreement with PacBio (NASDAQ: PACB). Utilizing PacBio's PureTarget method, Athena Diagnostics conducted extensive testing in its state-of-the-art laboratory located in Marlborough, Massachusetts. This partnership underscores a commitment to utilizing cutting-edge technology to enhance genetic testing capabilities.

A preprint study has demonstrated the efficacy of the PureTarget gene panel in identifying a specific repeating gene pattern linked to Spinocerebellar ataxia type 10. This discovery could potentially inform care decisions by correlating the genetic findings with the age of disease onset. Mark Gardner, Senior Vice President of Oncology, Genomics, and R&D at Quest Diagnostics, highlighted the importance of long-read sequencing, noting that "extensive iterative testing is sometimes needed to identify the genes implicated in neurological diseases like ataxia."

Ataxia represents a significant challenge for affected individuals, impacting their motor skills in various ways, including difficulties with coordination and muscle control. Recent studies indicate that the prevalence of ataxia in children is approximately 26 per 100,000, with genetic factors contributing to about 10 per 100,000 cases. The new testing service aims to provide clearer answers for families dealing with this debilitating condition.

Christian Henry, President and CEO of PacBio, expressed enthusiasm about the collaboration, stating, "Athena Diagnostics is a well-regarded leader in neurological and rare disease testing, and we are excited about the potential of this new Athena Diagnostics test, empowered with our expertise in long-read sequencing, so more families get the answers they need."

The launch of this advanced ataxia testing service by Quest Diagnostics' Athena Diagnostics represents a significant leap forward in the realm of genetic testing for neurological disorders. By leveraging innovative long-read sequencing technology, the new service aims to improve diagnostic accuracy and provide essential insights for healthcare providers and affected families. As the landscape of genetic testing continues to evolve, Quest Diagnostics remains at the forefront, dedicated to enhancing patient health through cutting-edge solutions.