Our panels include over 3,900 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.
Fast and reliable diagnosis of primary immunodeficiencies (PIDs) can be life-saving. Certain defects necessitate prompt stem cell transplantation to prevent organ damage caused by opportunistic infections and to avoid an inevitable fatal outcome associated with the natural course of the disease. Some PIDs require personalized follow-up and supportive care to improve the outcome of affected patients.
All defects causing bone marrow failure lead to severe immunosuppression and may necessitate stem cell transplantation as the preferred treatment. An increased risk of cancers is characteristic in almost all immunodeficiencies. Some immunodeficiencies, such as defects in the complement pathway, may also present later in life with characteristics related to an abnormal outcome of common infections.
Accurate genetic diagnosis of the immunodeficiency, combined with a detailed disease phenotype, is crucial in characterizing these rare diseases. It also improves treatment and follow-up strategies for affected patients and their family members. Identifying family members at risk makes it possible to begin preventive treatments and/or make lifestyle recommendations. It also justifies routine follow-ups by healthcare professionals. Genetic diagnosis can also 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.
In this educational webinar, led by Dr Melita Irving, we will see how the combination of clinical and radiographic characterization with genetic testing creates a high diagnostic yield for patients with skeletal dysplasia. Case examples will be presented to review clinical considerations. Emerging opportunities in therapeutics targets will also be discussed.
Read moreIn this educational webinar, Clinical Development Manager Dr Johanna Sistonen will review the latest advancements in analyzing difficult-to-sequence regions. We will provide insight into our own troubleshooting strategies for challenging cases and our approach to customized sequencing and bioinformatic solutions.
Read moreWe spoke with Dr Reddy about how she utilizes genetic testing when caring for patients with an ophthalmologic disorder and what she looks for in a test. She provides insight into the positive effects of ordering genetic testing for her patients and discusses the benefits of the My Retina Tracker Program, an open access genetic testing program for patients in the US with inherited retinal disease. Finally, she shares her thoughts on what the future of ophthalmology will look like and the role that genetic testing plays.
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