Effective August 15, Blueprint Genetics will transition laboratory services to our global headquarters and laboratory in Helsinki, Finland and discontinue providing lab services from the US. For more information, please visit https://blueprintgenetics.com/us-lab-operations/.
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.
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We are happy to announce the expansion of our offering portfolio. As an addition to our NGS-based tests, we now offer 3 diagnostic tests including FMR1 repeat expansion analysis. X-linked Intellectual Disability Panel with FMR1 repeat expansion is a 106-gene panel that includes assessment of non-coding variants. The panel is…
In this webinar, we will explore the rationale for offering carrier screening and things to consider when selecting a test. We will also discuss points to cover as part of the pre-test and post-test counseling and will conclude with some case examples.
We’re excited to inform you that we have expanded our Reproductive Carrier Screening offering. The new tests listed below will include the FMR1 repeat expansion analysis: Comprehensive Reproductive Screen with FMR1 repeat expansion (CS0101) Comprehensive Reproductive Screen DUO with FMR1 repeat expansion (CS0102) Core Reproductive Screen with FMR1 repeat expansion…
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