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Blueprint Genetics, NICER Consortium Developing Genetic Test for Immunologic, Hematologic Disorders

NEW YORK – Blueprint Genetics and the North American Immuno-Hematology Clinical Education and Research (NICER) Consortium announced Monday a collaboration on a diagnostic test for patients with immunologic and hematologic disorders.

The "comprehensive immune and cytopenia panel" is based on whole-exome sequencing and will analyze 600 genes associated with disorders including primary immunodeficiency, bone marrow failure, complement disorders, autoinflammatory disorders, and cytopenias. The test will include sequencing, copy number variant analysis, and deep intronic variant detection. The partners plan to use it to create a patient registry and advance research in the field.

Financial and other terms of the collaboration were not disclosed.

"Inborn errors of immunity most often present in patients in their childhood and adolescence," Blueprint Executive Medical Director Tero-Pekka Alastalo said in a statement. "Because of the phenotypic complexity, a large number of individuals continue to go undiagnosed, underdiagnosed or misdiagnosed. Genetic testing is becoming a crucial component in diagnosing these patients."

Helsinki, Finland-based Blueprint offers next-generation sequencing-based tests in more than 70 countries, include the US. In January, Quest Diagnostics acquired Blueprint for an undisclosed amount of cash.

The new panel will be available to approximately 20 clinics within the NICER consortium and will be added to Blueprint's commercially available testing portfolio at an unspecified future date.

"Bringing this powerful new tool to our community will be of immediate diagnostic benefit with implications for personalized treatment decisions for current patients," NICER Executive Chair Kelly Walkovich added in a statement.

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