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.
Juhana Rauramo, a 20-year veteran of the diagnostics industry in Finland, has joined Quest Diagnostics as vice president and general manager for the company’s Helsinki-based Blueprint Genetics business, reporting to Mark Gardner, SVP, Oncology & Genomics. Based in Helsinki, Finland, Juhana will lead Blueprint Genetics’ business strategy for EMEA and rest-of-world markets. Mr Rauramo will also serve as managing director for the company and work closely with cross-functional partners and US colleagues as it aligns with Blueprint’s genomics products, service, and technology strategies.
We are excited to announce our latest update of adding over 14,000 new genes to our current list of 3,600 genes available for diagnostic panel customization As the field of genetics is constantly evolving and changing, we want to ensure that the healthcare professionals…
Summary The yield of genetic testing in patients with hereditary neuropathy (HN) has not consistently included the mitochondrial genome (MG). To address this, we performed a retrospective review of 661 reports from individuals suspected of having HN who had multi-gene panel testing (MGPT) at Blueprint Genetics. One of every four…
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