CAMBRIDGE, Mass., May 16, 2017 /PRNewswire-USNewswire/ -- Claritas Genomics announces the launch of the Hemophagocytic Lymphohistiocytosis/Macrophage Activation Syndrome (HLH/MAS) Region of Interest test to its menu of exome based molecular diagnostic testing.
The HLH/MAS Region of Interest encompasses 20 genes relevant to autosomal recessive or x-linked primary HLH and auto-inflammatory disease that can trigger MAS. In addition to identifying variants in exons and adjacent intronic sequences, the assay also detects deep intronic variants in UNC13D shown to be important in disease.
HLH and MAS are potentially life threatening disorders resulting in an overactive immune response that can damage healthy tissue and organs. HLH can be inherited (primary or familial HLH), or acquired (secondary HLH). MAS is secondary to multiple auto immune disorders and prompt diagnosis of Primary HLH and inherited immune disorders is essential and can result in successful treatment of the disease.
Claritas' HLH Region of Interest was developed with rheumatologists, immunologists and oncologists including Lauren Henderson, MD, MMSc, Director of the HLH/MAS workgroup at Boston Children's Hospital, and is unique because the assay includes genes associated with both familial HLH and auto-inflammatory conditions that can cause MAS.
HLH/MAS joins the Claritas menu of Immunology, Neurology, and Hematology Regions of Interest, and is based on Claritas' innovative dual-capture, dual sequencing platform method unique to the industry. This "Orthogonal Approach" simultaneously confirms ~95% of all exome variants with Sanger confirmation for the remaining 5%, providing high confidence clinical results.
As with all Claritas Region of Interest tests, ordering clinicians can access full exome data provided via WuXiNextCODE Health's Clinical Sequence Analyzer (CSA) software.* The WuXiNextCODE CSA is the world's most widely-used system for sequence-based rare disease diagnosis. CSA provides access via an always-on, harmonized knowledgebase of all major global databases and reference sets; the ability to conduct queries according to a range of modes of inheritance without specialized informatics expertise; and instant visualization of mutations in raw sequence data.
More information regarding the HLH/MAS Region of Interest can be found at www.claritasgenomics.com/test/hlh-region-interest-trio-or-proband-only. For ordering information, email [email protected], visit our website at claritasgenomics.com or call Client Services at (617)553-5880 / (855)373-9003 (toll free).
*not available in New York
About Claritas Genomics
Claritas Genomics was created by leading pediatric medical centers Boston Children's Hospital and Cincinnati Children's Hospital in partnership with Cerner Corp, WuXiNextCODE Genomics, and ThermoFisher Scientific to serve children affected with complex genetic disorders by providing timely and accurate results, and resolving families' long search for answers. By combining clinical expertise of the world's best pediatric specialists with innovative best in class information and genomic platform solutions, Claritas' mission is to improve patient care and enable new discoveries for pediatric precision medicine.
Now is the time to integrate genomics into clinical practice to inform, guide and improve medical treatment for kids around the world.
Mary Ellen Cortizas
Chief Operating Officer
Tel: +1 (617) 553-5804
SOURCE Claritas Genomics