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

Our commitment to providing you with high-quality service during COVID-19

Mar 17, 2020

Blueprint Genetics is closely monitoring the ongoing spread of the Coronavirus Disease 2019 (COVID-19) and its impact on the current health environment. We are taking all measures to prepare for exceptional circumstances during this time to ensure we continue to meet the needs of healthcare professionals and the patients they…

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Next steps with a VUS

Mar 16, 2020

Date: April 16 Time: 9:00 AM PST / 18:00 PM CEST This is our annual educational webinar on variants of uncertain significance. Join for an updated overview this April! Variants of uncertain significance (VUS) are often thought of as an undesirable result in genetic testing. Is…

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