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.
In this webinar, Senior Manager of Genomic Services, Kim Gall, MSc, CGC, will review this group of disorders, the genetics of IRD, and how to navigate genetic testing to maximize diagnoses in the clinic.
Ending the diagnostic odyssey for your patient: The need for precise testing and accurate analysis Satellite Session: Saturday, June 12 – 12:15-13:00 CEST Part I: Choosing the right genetic testing strategy, can one size fit all? With the rapid advance of new genetic analysis technology and increased choice…
During this educational webinar, Laboratory Director Dr Jennifer Schleit and certified genetic counselor Christèle du Souich, will delve into an in-depth discussion on variants of uncertain significance, exploring both the clinical team and diagnostic laboratory’s perspective.
Please be advised that we only accept specimen collection kit requests from medical professionals. If you are a patient or family member of a patient, please contact your provider to place a kit order on your behalf.You can order up to 10 kits per type and 30 kits total. If you need more kits, please contact our customer support team.