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

Open Access Genetic Testing Program for Patients with Inherited Retinal Disease – Workshop for Eye Care Professionals

May 22, 2020

The Foundation Fighting Blindness, in partnership with Blueprint Genetics and InformedDNA, offers an open access, no-cost genetic testing program called the My Retina Tracker Program®. This program is for individuals living in the United States, with a clinical diagnosis of an inherited retinal degeneration (IRD). In this webinar-workshop, we will review the program features and the online ordering process.

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Webinars

El reto de resolver casos pediátricos complejos

May 18, 2020

El equipo de Blueprint Genetics no está ajeno al reto de resolver casos complejos. Durante este seminario web, la Dra. Rocío Sánchez Alcudia, genetista en Blueprint Genetics, describirá, a través de ejemplos de casos pediátricos, algunos de los desafíos más recientes a los que se ha enfrentado nuestro equipo para llegar a un diagnóstico molecular.

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