NICER and Blueprint Genetics Collaborate to Improve Genetic Testing for Immunologic and Hematologic disorders

April 20, 2020

The North American Immuno-Hematology Clinical Education & Research (NICER) Consortium and Blueprint Genetics have collaborated together to assemble a genetic test with the highest diagnostic potential for patients with immunologic and hematologic disorders. The new “Comprehensive Immune and Cytopenia Panel,” which is performed on a whole exome sequencing backbone, will support the creation of a patient registry and innovative research in the field.

Identification of genetic pathogenic variants affecting the immune and hematological systems are critical in creating a tailored medical management plan and family counseling for patients. However, there is a significant amount of overlap between immunologic and hematologic disorders. Having to select one or more limited genetic panels based on patient clinical symptoms can create a delay in optimal management. This 600-gene panel was designed to help providers diagnose their patients with hematologic and/or immunologic presentations more rapidly by being inclusive of a broad range of immuno-hematologic disorders. These include primary immunodeficiency, bone marrow failure, complement disorders, autoinflammatory disorders, and cytopenias.

This new panel is available to approximately 20 clinics within the NICER consortium, with intention to add it to Blueprint Genetics’ commercially available testing portfolio at a future time. Other clinics and hospitals interested in utilizing the Comprehensive Immune and Cytopenia Panel should contact Blueprint Genetics.

“NICER is excited to collaborate with Blueprint Genetics in the development of the Comprehensive Immune and Cytopenia Panel. Bringing this powerful new tool to our community will be of immediate diagnostic benefit with implications for personalized treatment decisions for current patients. The new panel and collaboration also lays the foundation for valuable sequencing data, from individuals who consent, to be included in our NICER patient registry and facilitates our scientists’ ability to discover new genetic determinants of disease to inform future care,” says NICER’s Executive Chair, Kelly Walkovich, MD.

“Inborn errors of immunity most often present in patients in their childhood and adolescence. A fast, accurate molecular diagnosis is extremely important. 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. This panel offers a gene selection, inclusion of high-resolution copy number variant detection, and select clinically relevant deep intronic variants, enabling maximized diagnostic potential for these patients,” says Blueprint Genetics Executive Medical Director Dr. Tero-Pekka Alastalo.

With the rapid advances in the field, panels can quickly become outdated as new literature becomes available. Blueprint Genetics will continuously review relevant literature and perform routine panel updates to help ensure that clinicians and families will have access to the most up-to-date genetic test. The curation efforts take into account the latest findings in the field contributed by a multidisciplinary team of experts within the NICER consortium and Blueprint Genetics.

The Comprehensive Immune and Cytopenia Panel in short:

  • >600-gene panel encompassing a wide variety of genes associated with:
    • Primary immunodeficiency
    • Bone marrow failure
    • Neutropenia
    • Thrombocytopenia
  • Sequencing, copy number variant analysis and deep intronic variant detection included
  • Run on the Blueprint Genetics’ whole exome sequencing backbone
  • >270 pathogenic non-coding variants included


Further information:

Blueprint Genetics
Tero-Pekka Alastalo, Executive Director, Medical,

Clinics and hospitals interested in utilizing the Comprehensive Immune and Cytopenia Panel should contact Blueprint Genetics. Please fill out our contact form to have the Genetic Services Consultant in your area reach out to you to discuss access to the panel:

Kelly Walkovich, MD, Executive Chair,

NICER (North American Immuno-Hematology Clinical Education & Research) is a consortium of 20+ medical centers (and growing) whose mission it is to provide a collaborative multidisciplinary environment to advance the education, clinical care, and research involving pediatric and adult patients with immuno-hematologic disorders. 

About Blueprint Genetics
Blueprint Genetics, a Quest Diagnostics company, is a leading specialty genetics and bioinformatics company focused on providing genetic testing for inherited diseases. The company is based in Helsinki with a U.S. hub in Seattle, and a customer base spanning over 70 countries.

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