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.
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.
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.
In this presentation, Christèle du Souich, MSc, CGC, CCGC, reviews different types of testing platforms and what to consider when choosing a genetic test for your patient. Through case examples, the step-by-step process and the related key challenges and potential solutions will be presented.
Read moreIn this educational webinar, Dr. Bryce Mendelsohn, Clinical Medical Geneticist, will discuss what in his experience is the most useful phenotypic information to send along with your sample. He will be joined by our Seattle lab director, Dr. Jennifer Schleit, who will review why, from the laboratory perspective, a detailed patient phenotype is essential to increase the chances of obtaining a diagnosis. Together they will further discuss this issue with the help of some clinical examples.
Read moreWe are passionate about changing peoples’ lives through development of groundbreaking solutions that take genetic diagnostics from niche to mainstream – to the benefit of patients with rare inherited diseases worldwide. In this video, find out why you should choose Blueprint Genetics.
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