Hematology
Hematology Panels

Genetic testing for hematology

Our panels include over 3,000 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

Empowering Precision Medicine: The power of WES and mitochondrial DNA analysis

Oct 08, 2025

In this talk, Dr Wells will demonstrate how high quality whole-exome sequencing, analysis and interpretation lead the way in unlocking answers in the most challenging cases. Dr Raquel Pérez will review the capabilities of an NGS-based mtDNA assay performed in parallel with nuclear DNA analysis and outline key considerations for mitochondrial genome testing and reporting.

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Webinars

Optimizing research outcomes: WGS and WES with Blueprint Genetics

Sep 21, 2025

In this webinar Ville Kytölä, Director of Bioinformatics Engineering and Mikko Muona, PhD, Senior Bioinformatics Manager from Blueprint Genetics will discuss how to evaluate WGS and WES services, understand key technical and operational criteria to ensure that sequencing projects achieve high-quality, reproducible results. 

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