Our panels include over 3,000 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.
NGS-based genetic diagnostics are becoming a mainstream practice for conditions associated with hearing loss and deafness. It is also recommended by international guidelines (American College of Medical Genetics and Genomics (ACMG) and PMID: 24941903 and 24651602). Considering the great number of genes involved in hereditary hearing loss and deafness, NGS-based panel testing is generally accepted as the most cost-effective primary diagnostics option.
What genetic diagnostics can offer patients with Ear-Nose-Throat diseases
Numerous genes are implicated in hereditary hearing loss and deafness. Pathogenic variants in any of these genes may present a cause of hereditary hearing loss and deafness. Therefore, the success of genetic counseling and risk assessment greatly depends on accurate and specific determination of the genetic diagnosis. Together with clinical diagnosis, genetic diagnosis is key to understanding the inheritance pattern and prognosis of the disease. Genetic diagnostics is the most efficient way to subtype these diseases. It provides the necessary information to make confident individualized treatment and management decisions. Additionally, genetic diagnosis can help in family planning.
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…
Summary Pulmonary arterial hypertension (PAH) is a rare condition that increases pressure in the lungs and can lead to heart failure. Genetic testing can help identify the underlying cause, guide family screening, and inform reproductive decision-making. While previous studies in selected patient groups report a diagnostic yield of 10–30%, less…
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