Durante este seminario web educativo, la Dra. Raquel Pérez Carro, ofrecerá una visión general del proceso de análisis e interpretación del exoma. Desde el análisis de los datos hasta la interpretación de las variantes, se describirá cómo descifrar los datos genéticos del paciente para proporcionar información clínicamente relevante.Read more
Genetic testing for neurology
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.
Genetic testing in the field of neurology is becoming increasingly beneficial. NGS panels can lead to a notable increase in the diagnostic success rate, as well as potentially more rapid diagnoses, which has implications for health service economics and improved patient satisfaction.
Genetic testing using targeted capture followed by NGS is an efficient and cost-effective method of molecular diagnosis in many refractory ataxia cases (PMID: 24030952). Furthermore, genetic diagnosis using well-designed NGS panels has expanded the phenotypic spectrum of many genes to cover a broader range of diseases than ever before. With the current technology and careful interpretation of the detected variants, mutations in the same genes can be associated with a broad range of clinical and neuroimaging phenotypes.
What genetic diagnostics can offer patients with neurological diseases
All of the main neurological disease categories have a large number of subtypes with extensive phenotypic overlap, which complicates traditional clinical diagnosis. For example, disorders that were thought to be separate entities may actually represent a phenotypic continuum of a single entity, as was shown with Bethlem myopathy and Ullrich congenital muscular dystrophy. Genetic diagnostics is the most efficient way to subtype neurological diseases, and provides the necessary information to make confident individualized treatment and management decisions.
Living with a set of symptoms and findings without a definitive diagnosis can be stressful for patients, so finding a genetic cause may end a long diagnostic odyssey, and in many cases, a definite name may be relieving. Genetic diagnosis in neurological diseases has significant prognostic value, as disease progression can often be evaluated based on the underlying genetic defect.
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
The My Retina Tracker Genetic Testing Program Continues to Expand with Spark Therapeutics Joining as New Collaborator
Spark Therapeutics joins as a new collaborator to the My Retina Tracker® Genetic Testing Program to broaden access for individuals living with an inherited retinal degeneration (IRD).Read more