Unlocking the Exome: Harnessing WES to Find Answers in Challenging Genes
Discover the clinical relevance of genes that pose sequencing challenges and their unique potential to impact patient outcomes.
Read moreOur 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.
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.
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.
Discover the clinical relevance of genes that pose sequencing challenges and their unique potential to impact patient outcomes.
Read moreThe major new portfolio expansion will answer the ever-increasing demand for genetics evaluations for conceiving couples and healthy individuals and provide medically actionable results. While genetic diagnostic tests for affected individuals are a great tool for finding out the cause of…
Read moreIn this webinar, Clinical Genomic Liaison, Torry Howell, MS, CGC will review the use of genetic testing in IEIs and advise on how to maximize quality and patient care when ordering genetic testing.
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