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.
Mikko Särkkä and co-authors presented an open-source framework called AMISS that can be used to evaluate performance of different methods for handling missing genetic variant data in the context of variant pathogenicity prediction. Using AMISS, they evaluated 14 methods for handling missing values. The performance of these methods varied substantially in terms of precision, computational costs, and other attributes.
Summary Multigenic and intragenic copy number variation (CNV) are expected to contribute to the molecular etiology of inherited bone marrow failure syndromes (IBMFS). To determine the efficacy of a broad next-generation sequencing (NGS) panel test including robust CNV analysis, we conducted a retrospective review of 495 test reports from patients…
Summary Hereditary spastic paraplegia (HSP) is a heterogenous condition characterized by lower extremity weakness and spasticity. For many patients, the genetic etiology remains undetermined, and few studies have evaluated the yield of broad genetic testing in a large cohort of patients presenting with HSP. In a retrospective review of 533…
Please be advised that a specimen collection kit must be requested by a medical professional.
If you are a patient or family member of a patient, please contact your provider to place a kit order on your behalf.