Athena Diagnostics, which is part of Quest Diagnostics and widely recognized for its expertise in neurology, has launched a new genetic testing service aimed at identifying ataxia, a group of neurological disorders that affect coordination and movement. This newly developed test focuses on detecting long, repeating DNA sequences that are often missed by conventional genetic testing methods. While standard sequencing is effective at reading short DNA segments, it frequently fails to identify more complex or extended repeats that are associated with specific forms of ataxia. This test, developed as a lab-based diagnostic, is intended to confirm results from initial screenings that use polymerase chain reaction (PCR). Healthcare providers can now access and order the test directly through Athena Diagnostics.
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The development of this test involved collaboration with PacBio, using PacBio’s PureTarget technology. The research and validation process took place at Athena’s advanced laboratory in Marlborough, Massachusetts, where their team employed this technology to focus specifically on ataxia-related sequencing challenges. The same platform is being evaluated for future applications, including carrier screening tools that can detect genetic risks before the onset of symptoms. A recent study found that the PureTarget panel was able to detect a repeating gene sequence associated with Spinocerebellar ataxia type 10, which may also indicate the potential age at which symptoms appear. Such information can be useful in making informed treatment decisions and planning patient care.
Mark Gardner, Senior Vice President of Oncology, Genomics and R&D at Quest Diagnostics, explained, “Finding the genes involved in neurological diseases like ataxia often needs extensive testing. Looking at long DNA strands may find patterns that other methods miss, leading to better confirmatory testing.” His comments reflect the growing importance of advanced genomic approaches in diagnosing complex neurological conditions that may not be easily detected using standard tools.
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Christian Henry, President and Chief Executive Officer of PacBio, also commented on the collaboration: “Athena Diagnostics is a leading company in neurological and rare disease testing, and we’re excited about this new test, which uses our long-read sequencing expertise to give more families the answers they need.” This partnership underscores how combining cutting-edge sequencing technologies with clinical expertise can lead to more accurate and meaningful diagnoses for patients and their families.
Ataxia is a serious, degenerative condition that affects the nervous system, often impacting a person’s ability to coordinate muscle movements. Symptoms may include difficulties with walking, hand and arm coordination, speaking, and even eye movement, often caused by dysfunction in parts of the brain. According to recent research, approximately 26 in 100,000 children are affected by ataxia, and 10 in 100,000 cases are linked directly to genetic causes. By improving testing accuracy and enabling earlier diagnosis, Athena’s new offering may provide much-needed clarity for both clinicians and patients navigating this complex disorder.
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