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.
Variants in APOE are known to play a role in both abnormalities of lipid metabolism and neurologic disease. During this webinar, we will review APOE’s role in coronary artery disease risk and Alzheimer’s disease risk, and address questions and review current guidelines for testing APOE.
Read moreDuring November and December, our Helsinki and Seattle laboratories and Customer Support have a few exceptions in opening hours. Please note the closing times when shipping samples. If you have any questions regarding sample reception, we are here to help! The Helsinki laboratory and Customer Support opening hours during…
Read moreTo mark the annual Genetic Counselor Awareness Day, we invite you to join a Q&A session where genetic counselors from the Blueprint Genetics team can answer any questions you may have about the industry and different opportunities available for genetic counselors. They will also share their own experiences and insights working in this field.
Read more