Hematology

We offer comprehensive genetic diagnostics for a broad range of hematological disorders varying from bone marrow failure to specific disorders affecting various cell populations and factors involved in hemostasis. These include congenital defects in neutrophils, inherited disorders affecting platelets and platelet function, and a broad spectrum of red blood cell disorders.

Genetic testing for hematology

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.

Find the right test for your patient

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.

Our clinical statement is industry leading.

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News

Full transparency sets a new standard for quality

Published on July 21, 2017

Blueprint Genetics is committed to provide the highest quality genetic testing for our customers. Since quality is something that can be proven, we are proud to transparently share our full set of quality metrics with you. To be able to show the different aspects of quality in genetic testing, we…

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Podcast

Transparency in genetic diagnostics

Published on June 15, 2017

There is a significant completion to drive down the price and TAT of genetic diagnostics. To survive in this competition, laboratories have to either rigorously innovate or then make compromises in quality and performace standards. In an untransparent diagnostic environment, health care professionals have a hard time to evaluate optimal and best testing for their patients.

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Resource

 Validation of clinical testing

[WHITE PAPER] Validation of clinical testing – Setting a new standard for clinical testing through fully transparent validation. Comprehensive analytic validation is a critical step in transparent genetic diagnostics. It demonstrates the quality and performance of the pipeline, and is the foundation for setting quality standards for the carried tests. Blueprint Genetics performs analytic…

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