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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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

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.

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Our service hours during the holiday season

Nov 22, 2021

During November and December, our Helsinki and Seattle laboratories and Customer Support have a few exceptions in opening hours. Please note the closing times when shipping samples. If you have any questions regarding sample reception, we are here to help!   The Helsinki laboratory and Customer Support opening hours during…

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Webinars

Genetic Counselor Awareness Day—Ask our GCs!

Nov 01, 2021

To mark the annual Genetic Counselor Awareness Day, we invite you to join a Q&A session where genetic counselors from the Blueprint Genetics team can answer any questions you may have about the industry and different opportunities available for genetic counselors. They will also share their own experiences and insights working in this field.

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