Core Insights - Athena Diagnostics, a subsidiary of Quest Diagnostics, has launched a new laboratory test service aimed at identifying genetic causes of ataxia, a group of progressive neurological disorders affecting movement and coordination [1][2]. Company Overview - Athena Diagnostics specializes in diagnostic testing for neurological diseases and offers innovative tests for conditions such as Alzheimer's disease and muscular dystrophy [7]. - Quest Diagnostics is a leading provider of diagnostic information services and has collaborated with PacBio to develop the new ataxia test using advanced sequencing technology [1][3]. Technology and Methodology - The new test utilizes PacBio's PureTarget sequencing method, which is designed to identify long repeating DNA sequences that conventional sequencing technologies may miss [2][3]. - The test will confirm initial screening results obtained through polymerase chain reaction (PCR) testing, enhancing the quality of confirmatory testing for ataxia [2][5]. Clinical Relevance - A study indicated that the PureTarget gene panel could identify specific repeating gene patterns associated with Spinocerebellar ataxia type 10, potentially guiding care decisions based on the age of disease onset [4]. - The prevalence of ataxia in children is reported to be 26 per 100,000, with 10 per 100,000 cases attributed to genetic factors [6]. Future Developments - Athena Diagnostics is exploring the development of additional tests based on PacBio technology to enhance carrier screening capabilities [3].