ST LOUIS – PierianDx, the forerunner in clinical genomic analysis, interpretation and reporting, announced that its leading, integrated “one space” genomics workflow and analysis solution, Clinical Genomicist Workspace (CGW), now supports clinical microarray (CMA) technology.
CMA is commonly used in the constitutional setting to evaluate complex developmental disorders and is used to identify potential copy number variations (CNVs) that explain one or more relevant clinical phenotypes observed in the patient. While in recent years Next Generation Sequencing (NGS) has become the gold-standard for clinical genomics because of its more comprehensive analysis and increasingly lower price point, CMA is still widely used in the industry.
Integrating CMA into CGW is a part of PierianDx’s continued goal to be the “one space” clinical labs turn to for an integrated molecular diagnostics workflow, analysis and interpretation platform, said PierianDx CEO Ted Briscoe. “We have always been committed to offering a comprehensive molecular diagnostic solution that is assay and technology agnostic and easily integrated into our customers’ enterprise ecosystems,” said Briscoe. “CMA is in keeping with this commitment and will allow us to add clinical interpretations and previously interpreted copy number alterations to our shared knowledgebase across our partner network.”
Some of the CMA enhancements within CGW include:
Workflow integration to submit processed microarray results from a batch of samples to generation of a templated report without user intervention
Ability to review, sort and filter copy number variants (CNV) as well as loss of heterozygosity (LOH) segments and associated quality informationAbility to set laboratory-specific validation filters for CNV and LOH segments as well as specific panel- and case-specific filters
Clinical interpretations that are automatically inferred in patient cases for review and editing
PierianDx enables clinical labs to deliver patient-specific diagnosis and treatments based on an individual’s DNA for cancers and hereditary diseases. Utilizing PierianDx’s comprehensive and integrated “one space” NGS workflow and analysis solution, Clinical Genomicist Workspace (CGW), clinical labs create more streamlined and accurate analysis, interpretation, and reporting needed to accelerate their personalized medicine programs. For more information, please visit www.pieriandx.com or @PierianDx on Twitter.