Hematology

Genetic testing for hematology

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.

Nucleus:
Easy ordering and networking platform for clinicians

Subscribe to our newsletter

Subscribe
Find the right test for your patient
Our clinical statement is industry leading.
See a sample report

How to order

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.

Latest news and resources

Webinars

El análisis del ADN mitocondrial en paneles de NGS: más allá del núcleo

Jan 26, 2022

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.

Read more
Webinars

Beyond the Nucleus: Combining Panel-based NGS Testing with mtDNA Analysis

Jan 07, 2022

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.

Read more
Webinars

APOE in Focus: Considerations and Guidelines for Genetic Testing

Nov 24, 2021

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.

Read more

Subscribe to our newsletter

Subscribe