Athena Diagnostics Launches Advanced Ataxia Testing with Long-Read Sequencing Technology

Athena Diagnostics Launches Advanced Ataxia Testing

Athena Diagnostics, a leading name in the realm of neurological diagnostics and part of Quest Diagnostics, has made significant strides in the early diagnosis of ataxia, a degenerative neurological condition affecting coordination and movement. Leveraging cutting-edge technology, the company has launched an innovative laboratory-developed test using long-read gene sequencing to reveal genetic causes of ataxia, which were previously challenging to detect.

Transforming Ataxia Testing

Ataxia encompasses a delicate group of progressive disorders that impact the nervous system, causing difficulties in muscle coordination and an array of disabling symptoms from lack of balance to problems with speech. Traditional gene sequencing methods have often fallen short in accurately identifying complex genetic patterns associated with these disorders. However, with the advent of long-read sequencing technology, Athena Diagnostics has equipped healthcare professionals with a powerful tool to better understand this condition.

This new testing service is based on the well-respected PacBio's PureTarget sequencing technology, which enables the identification of repetitive DNA sequences that might be scattered throughout the genome. These long stretches of DNA can carry critical genetic variations responsible for ataxia, variations that often evade detection by conventional sequencing methods focused on shorter sequences.

The Power of Collaboration

The successful development of this test was made possible through a collaboration with PacBio, an innovator in life science technology. In Athena’s lab in Marlborough, Massachusetts, the test has been rigorously validated. The knowledge gained will not only enhance diagnostic accuracy for ataxia but may also pave the way for future carrier screening tests based on the same technology.

Mark Gardner, Senior Vice President of Oncology, Genomics and R&D at Quest Diagnostics, emphasizes the importance of this advancement: “Extensive iterative testing is sometimes needed to identify the genes implicated in neurological diseases like ataxia. Interrogating long DNA strands may reveal patterns that other methods miss, thereby improving the quality of confirmatory testing.”

Implications for Patients

A preprint study highlighted the use of the PureTarget gene panel in identifying a specific repeating gene pattern associated with Spinocerebellar ataxia type 10, which could correlate with the age of disease onset. This information could be crucial in informing healthcare providers about tailored care strategies for their patients, emphasizing the test’s role beyond mere genetic identification to actively guiding treatment options.

Recent statistics reveal that the prevalence of ataxia is approximately 26 cases per 100,000 children, with 10 of those attributed to genetic factors. Reducing diagnostic delays through more accurate testing could drastically improve the quality of life for affected individuals and their families.

Acknowledging Leadership in Neurological Testing

Athena Diagnostics has a well-established reputation as a frontrunner in diagnostic testing for neurological diseases, offering innovative solutions for conditions such as Alzheimer’s, muscular dystrophy, and various other neuromuscular disorders. Their commitment to excellence and improved health outcomes remains unwavering, solidifying their leadership role in the medical community.

The Next Steps

As the field of genetic diagnostics continues to evolve, Athena Diagnostics seeks to remain at the forefront of innovation. With the successful introduction of this new ataxia test, the company is optimistic about its potential impact on patient care. Enhanced diagnostics promise to not only clarify complex genetic conditions but also to empower clinicians with the knowledge they need to make informed decisions for better patient outcomes.

For more information on their comprehensive range of services, visit AthenaDiagnostics.com.