Quest Diagnostics Launches Advanced Ataxia Testing with PacBio Genetic Sequencing Technology
- Quest Diagnostics' Athena Diagnostics launches a new test using PacBio's technology to identify genetic causes of ataxia.
- The test improves diagnostic accuracy for ataxia, particularly for complex repeating DNA sequences often overlooked.
- Quest Diagnostics aims to enhance genetic testing services, exploring applications in carrier screening and other medical fields.
Quest Diagnostics Enhances Ataxia Testing with Innovative Genetic Sequencing Technology
Quest Diagnostics' specialty neurology division, Athena Diagnostics, recently launches a groundbreaking laboratory-developed test utilizing PacBio's PureTarget sequencing technology to identify genetic causes of ataxia. This group of progressive neurological disorders significantly affects movement and coordination, and the new test offers an advanced tool for healthcare providers seeking to enhance diagnostic accuracy. Traditional sequencing methods often struggle with complex or lengthy repeating DNA sequences, which are critical in diagnosing genetic conditions. By leveraging this innovative technology, Athena Diagnostics aims to uncover specific genetic patterns associated with ataxia, particularly those linked to commonly overlooked repeating sequences.
The test serves as a confirmatory measure following initial screening results obtained through polymerase chain reaction (PCR) testing. Developed and validated at Athena's advanced laboratory in Marlborough, Massachusetts, the test has shown promising results in recent studies. Notably, a preprint study reveals its capability to detect a repeating gene pattern associated with Spinocerebellar ataxia type 10, a form of the disorder that may correlate with the age of onset. This correlation could significantly aid clinical decision-making, providing patients and families with critical information regarding the progression and management of the disease.
Mark Gardner, Senior Vice President of Oncology, Genomics, and R&D at Quest Diagnostics, underscores the importance of this technology in enhancing the quality of confirmatory testing for ataxia. He notes that the ability to identify crucial genetic patterns can lead to more accurate diagnoses, ultimately improving patient outcomes. Christian Henry, President and CEO of PacBio, expresses enthusiasm for the collaboration, highlighting Athena Diagnostics' established reputation in neurological and rare disease testing. The need for improved diagnostic tools is evident, with ataxia affecting approximately 26 per 100,000 children, and 10 per 100,000 cases attributed to genetic factors, making this innovation a significant advancement in the field.
In addition to its focus on ataxia, Athena Diagnostics is committed to exploring further applications of PacBio's technology. The collaboration aims to expand into advancements in carrier screening, addressing the growing demand for genetic testing in various medical fields. As the healthcare landscape evolves, Quest Diagnostics remains at the forefront of integrating advanced genetic testing technologies to deliver accurate and timely diagnostic services.