New Test Improves Ataxia Movement Disorder Testing

Athena Diagnostics has released a new laboratory test service intended to provide insights into genetic causes of ataxia, a group of progressive, degenerative neurological disorders that affect movement or coordination.

The new service is a laboratory developed test that identifies DNA sequences that repeat many times across a long genome stretch. Conventional sequencing technologies are adept at elucidating short DNA sequences but may fail to discern complex or large repeating sequences. Genetic ataxia causes include expansions of repeating sequences in various genes, which may be undetected in many conventional genetic sequencing panels. The new service will be used to confirm initial screening results delivered using polymerase chain reaction (PCR) testing. Healthcare providers may now order the test from Athena Diagnostics.

Under a collaboration agreement with PacBio, Quest Diagnostics developed and validated the new lab developed test using specialized technology based on PacBio’s PureTarget method. Athena used the technology to develop and validate its ataxia test in Athena’s advanced laboratory in Marlborough, Mass. Athena is also exploring options to develop and deploy a test based on PacBio technology to improve carrier screening.

“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,” PacBio President/CEO Christian Henry stated.

In a study available as a preprint, a PureTarget gene panel was found to identify a specific repeating gene pattern associated with Spinocerebellar ataxia type 10 that may be associated with age of disease onset, information that may help guide care decisions.

“Extensive iterative testing is sometimes needed to identify the genes implicated in neurological disease like ataxia,” said Mark Gardner, senior vice president of Oncology, Genomics, and R&D at Quest Diagnostics. “Interrogating long DNA strands may identify patterns that other methods may miss, improving confirmatory testing quality.”

Ataxia is a degenerative nervous system disease wherein affected individuals may experience lack of coordination using muscles in their fingers and hands, arms, legs, walking, speaking or moving their eyes, resulting from brain dysfunction. Recent studies have found ataxia prevalence in children to be 26 per 100,000, with 10 per 100,000 being caused by genetics.

A business of Quest Diagnostics, Athena Diagnostics develops diagnostic testing for neurological diseases and offers tests for Alzheimer’s disease, muscular dystrophy, and other neuromuscular and developmental disorders.

PacBio is a life science technology company that designs, develops, and manufactures advanced sequencing solutions to help scientists and clinical researchers resolve genetically complex problems. Its products and technologies stem from two highly differentiated core technologies focused on accuracy, quality, and completeness which include our HiFi long-read sequencing and SBB short-read sequencing technologies. The company’s products address solutions across a broad set of research applications including human germline sequencing, plant and animal sciences, infectious disease and microbiology, and oncology. PacBio products are provided for research use only.