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.
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.
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.
We are passionate about changing peoples’ lives through development of groundbreaking solutions that take genetic diagnostics from niche to mainstream – to the benefit of patients with rare inherited diseases worldwide. In this video, find out why you should choose Blueprint Genetics.
Read moreWhole Exome Sequencing (WES) generates a large amount of genetic information, which makes the interpretation of the data a crucial part of providing meaningful clinical results. How is this data analyzed and what steps are taken to provide actionable insights? At Blueprint Genetics, we utilize a genotype-first approach to WES analysis. Watch…
Read moreHelsinki Biobank, Helsinki University Hospital (HUS) and its Rare Disease Center, and Blueprint Genetics announce promising results from the first phase of the Rare3K research initiative. The unique collaboration has pioneered new ways to find individuals in biobanks who may benefit from genetic testing to obtain an accurate diagnosis. Treatment…
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