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.
En este seminario web, la Dra. Rocío Sánchez Alcudia, analizará en detalle el potencial del análisis del ADNmt mediante secuenciación masiva (NGS), que se realiza en paralelo con el análisis del ADN nuclear. Presentaremos nuestra experiencia al incluir el análisis de ADNmt como parte de las pruebas genéticas clínicas y demostraremos cómo este enfoque aumenta el rendimiento diagnóstico de paneles basados en NGS.
Although mtDNA disorders are relatively common, testing for these disorders can be challenging. In this webinar, we will review the role of the mitochondrial variants in inherited disease, describe current capabilities in NGS testing for evaluating mtDNA variants, and present our experience including mtDNA analysis as part of clinical genetic testing and demonstrate how this approach increases diagnostic yield of NGS-based panel testing.
Variants in APOE are known to play a role in both abnormalities of lipid metabolism and neurologic disease. During this webinar, we will review APOE’s role in coronary artery disease risk and Alzheimer’s disease risk, and address questions and review current guidelines for testing APOE.