Quest Diagnostics Inc. unveiled extensions to its women’s health and AccuType® pharmacogenetic test menus and gave eight scientific presentations and host six scientific speakers during the American Association of Clinical Chemistry (AACC) Annual Meeting and Clinical Lab Expo.
The extensions to the company’s women’s health menu feature Athena Diagnostics’ spinal muscular atrophy (SMA) testing menu, believed to be the most comprehensive in the diagnostics industry. The services, which include adult-carrier screening and pre- and post-natal disease assessment testing, are now nationally available for the first time to physicians, laboratory directors and other clients of Quest Diagnostics. The offerings also position Quest Diagnostics as the only national major laboratory to provide testing services to assess SMA disease severity based on Athena’s analysis of the number of copies of an SMA-associated gene.
Athena Diagnostics, which Quest Diagnostics acquired in April 2011, is a provider of neurology diagnostics and a pioneer in SMA testing, which it has performed since 1996. Prior to the acquisition, select Quest Diagnostics’ business units had offered Athena Diagnostics’ SMA testing services in select regions only.
The SMA adult-carrier screening test detects defects in the survival motor neuron (SMN) 1 gene, which determines an individual’s risk of passing SMA to offspring. The pre- and post-natal disease assessment tests identify the number of copies of the SMN2 gene, which affects disease severity.
With the Athena Diagnostics offering, Quest Diagnostics is now the only major national laboratory in the U.S. to provide testing services for identifying the number of SMN2 gene copies. The company’s women’s health menu also includes testing, counseling and interpretation services for aiding the detection of several developmental disorders, including cystic fibrosis, fragile X syndrome and autism spectrum disorders.
“When it comes to personal and family health, women and their physicians rightly expect their clinical laboratory to offer the comprehensive testing options, expertise and quality needed to make well-informed decisions,” said Charles M. Strom, MD, PhD, senior medical director, genetics, Quest Diagnostics, and a board-certified pediatrician. “The addition of Athena’s SMA tests to Quest Diagnostics’ menu enables us to offer the broadest range of genetic women’s health testing and expert interpretative counseling services.”
At its exhibit, Quest Diagnostics also showcased its AccuType family of pharmacogenomic testing services for personalizing medicine. These include two tests Quest Diagnostics launched this year: AccuType Metformin, a service designed to help physicians predict if a patient with Type II diabetes or at risk for Type II diabetes will respond to metformin, and its AccuType IL28B test, designed to aid in the prediction of response to the widely used pegylated-interferon alpha-based therapy for treating hepatitis C virus infection. The AccuType line also includes tests introduced in recent years to aid in predicting patient response to the blood thinners clopidogrel (Plavix®) and warfarin.
In addition, the company’s medical experts gave eight poster presentations providing novel data on vitamin D by liquid-chromatography tandem mass spectrometry (LC/MS/MS), free T4 method comparison, and CYPC219 allele prevalence by ethnicity. As part of the company’s “What’s New in Laboratory Medicine?” in-booth speaker series, Quest Diagnostics scientists and external academic and other experts addressed topics of interest in clinical and laboratory medicine, including genetics and heart disease, vitamin D, endocrine disorders, infectious disease and prescription drug monitoring.