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.
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.
At ESHG 2021, Executive Medical Director Tero-Pekka Alastalo, MD, PhD, presented how mtDNA analysis can improve the diagnostic yield of panel-based testing across different medical specialties.
Read moreAt ESHG 2021, Senior Manager of Genomic Services Kim Gall, MS, CGC, gave a talk on solving diagnostic challenges in difficult-to-sequence regions with a special focus on hearing loss.
Read moreA study, recently published in PLOS ONE, evaluated the clinical utility and diagnostic yield of next-generation sequencing (NGS) based genetic testing in children who had their first unprovoked seizure between 2 and 5 years representing one of the first studies in this age group.
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