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.
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In this educational webinar, Professor Moosajee presents recent work in genetic eye disorders, including discoveries, which may provide patients with an answer for their diagnosis, better guide management strategies, and define risks for family members.
The European Human Genetics Conference 2024 View our recording of Blueprint Genetics at the European Human Genetics Conference June 1–4, 2024 in Berlin, Germany.
In this webinar, we explore the genetic underpinnings of mitochondrial diseases, spotlighting the mitochondrial genome and the intricacies of mtDNA testing via next-generation sequencing.
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