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.
Summary Genetic testing is recommended for individuals with suspected heritable thoracic aortic disease (HTAD), as results can guide management, determine whether additional surveillance for extra cardiac features is indicated, and identify at- risk relatives. To further demonstrate the value of genetic testing for these patients, we reviewed results from…
Summary Pancreatitis can result from a combination of both genetic and non-genetic factors. Some genetic variants are highly penetrant, while others act as low penetrance “disease modifying” contributors, making results difficult to interpret. To better understand the inheritance patterns and complexity of results,, we reviewed genetic testing results from…
Summary Background: As the importance of genetic testing in primary immunodeficiency (PID) grows, this study aimed to add to the knowledge of genetics of PID by employing advanced sequencing techniques and focusing on difficult-to-sequence gene regions. Methods: A retrospective review of nearly 2,200 patients suspected of PID,…
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