Neurology

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.

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Latest news and resources

Improving quality: Blueprint Genetics updates panels and prepares for the launch of mitochondrial DNA testing later this year

Oct 18, 2019

Blueprint Genetics is adding over 400 genes to 138 panels and introducing an improved clinical-grade Next Generation Sequencing assay for panels, single genes and variant specific testing. This update includes a number of recently discovered, clinically relevant deep intronic and regulatory variants and will facilitate the introduction of mitochondrial…

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Webinars

Introducing an open access genetic testing program for patients with inherited retinal degeneration

Oct 15, 2019

In this webinar, we will provide an overview of how the program works, describe the genetic counseling services provided to patients, outline the data privacy and data sharing policies, as well as highlight the benefits of enrolling in the MRT Patient registry. We will also provide an update on the new and updated Retinal Dystrophy Panel (‘My Retina Tracker’ Panel) offered through this program.

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Blueprint Genetics, InformedDNA and the Foundation Fighting Blindness launch an open access program for patients with inherited retinal disease in the United States

Oct 02, 2019

Beginning in October 2019, this new program offers patients with inherited retinal disease (IRD) access to no-cost genetic testing and genetic counseling in the United States. The program will streamline clinical workflow by providing the highest possible diagnostic yield, enabling faster and more straightforward follow-ups to patients.  The new program…

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