Hematology

Genetic testing for hematology

Our panels include over 3,900 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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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

Webinars

Genetic Testing for Inborn Errors of Immunity: What’s Included In Your Test?

Sep 21, 2020

In this educational webinar, North American Marketing Manager Joe Jacher, MS, CGC and Executive Medical Director Dr Tero-Pekka Alastalo, MD, PhD will provide an introduction to genetic testing for inborn errors of immunity and examine Blueprint Genetics’ experience sequencing thousands of individuals suspected of having an inborn error of immunity.

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Webinars

The Importance of Family: When to Consider Genetic Testing for Family Members

Sep 03, 2020

Genetic testing is often a question for the whole family. In this educational webinar, Senior Geneticist Dr Kirsty Wells will talk through the different scenarios of when genetic testing for family members is potentially valuable. Case examples will be presented to illustrate how familial testing can make a crucial difference to the genetic testing outcome.

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New and improved clinical report

Sep 02, 2020

The Blueprint Genetics clinical statement has been updated to provide quicker access to an overview of genetic test results. Following valued customer feedback, a summary of all findings has been added to the report. 

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