Athena Diagnostics, part of Quest Diagnostics, has launched a new lab-developed test that uses long-read gene sequencing to help identify genetic causes of ataxia—a group of degenerative neurological disorders that affect movement and coordination.

Conventional sequencing often misses large or complex DNA repeat expansions linked to ataxia. The new test detects these long repetitive sequences and is intended to confirm initial results from PCR-based screening. It is now available for healthcare providers through Athena Diagnostics.

Developed in collaboration with PacBio, the test uses PacBio’s PureTarget technology and was validated at Athena’s advanced lab in Marlborough, Mass. Athena is also exploring the use of this technology for expanded carrier screening.

In a preprint study, the PureTarget panel identified repeat patterns associated with Spinocerebellar ataxia type 10, which may offer insight into disease onset and help guide treatment.

“Long-read sequencing allows us to detect patterns that conventional methods may miss,” said Mark Gardner, SVP of Oncology, Genomics and R&D at Quest Diagnostics. “This can improve the quality of confirmatory testing for neurological diseases.”

“At Athena Diagnostics, we’re proud to offer this advanced test to help more families find genetic answers,” added PacBio CEO Christian Henry.

Ataxia affects muscle coordination and may impact walking, speech, and vision. Studies estimate the genetic form affects about 10 in every 100,000 children.