Genetic testing for hematology

Our panels include over 2600 genes selected based on curated gene reviews, variant databases (HGMD and ClinVar), most recent literature, and customer requests. We offer enhanced clinical utility, maximized diagnostic yield, empowered differential diagnosis as well as analytically validated up-to-date genes across all our panels. Difficult-to-sequence genes are covered with high quality enabling true diagnostic impact in challenging patient cases.

Depending on the underlying defect and the affected hematological cell populations, symptoms in hematological conditions can vary from bleeding disorders to severe anemia, or may cause significant immunosuppression. Furthermore, the inherited defects in coagulopathy may also cause thrombophilia, increasing the risk of thrombosis during childhood. All genetic defects that cause bone marrow failure lead to severe immunosuppression, possibly necessitating stem cell transplantation as a curative choice of treatment.

What genetic diagnostics can offer patients with hematological diseases

An accurate genetic diagnosis is necessary to confirm the diagnosis of certain hematological malignancies and to find the optimal treatment for affected patients. Establishing the underlying genetic defect and inheritance pattern further allows family member testing to identify at-risk relatives. Also, a genetic diagnosis can help in family planning.

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How to order

Ordering a test from us is quick and simple. You can order online using our secure portal, Nucleus, or send us a requisition form by mail.

Latest news and resources


How to solve challenging cases? Part II

Jul 19, 2019

During this webinar, Blueprint Genetics’ Clinical R&D lead, Dr. Johanna Sistonen, will present some of the team’s most challenging cases and describe how their above and beyond efforts led to the identification of the molecular diagnoses for the patients.

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Move announcement: New facility in Seattle – what you need to know

Jul 09, 2019

Blueprint Genetics is excited to announce that beginning July 22nd, we will be moving our sample accessioning, client services and billing services teams to our new expanded facility in Seattle, WA. These new, larger premises will allow us to support our increasing test volumes and provide exceptional customer service to…

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