Mitochondrial DNA (mtDNA) disorders are recognized as one of the most common causes of inherited metabolic disorders. mtDNA disorders can come with a range of symptoms such as fatigue, exercise intolerance, hearing loss, seizures, strokes, heart failure, diabetes, and kidney failure. There are approximately 120 mitochondrial disorders described affecting 1 in 5000 individuals worldwide.Read more
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.
How to order
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.
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Who We Are Blueprint Genetics is a genetic testing company focused on inherited diseases. With a patient-first mindset, we deliver high-quality genetic testing to the global clinical community across 14 medical specialties. Blueprint Genetics is based in Helsinki and Seattle, with a customer base spanning over 70 countries.Read more
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 more