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.
Genetic testing for eye disorders is becoming an increasingly useful diagnostic tool, especially considering the promising developments in gene therapy in this field. A number of therapies are now in clinical trials, and gene therapy is quickly becoming a reality for patients with inherited retinal diseases (PMID: 24439297, 26835369, and https://clinicaltrials.gov).
The broadest group of diseases covered by our panels are retinal dystrophies, including retinitis pigmentosa, cone rod dystrophy, macular dystrophies, congenital stationary night blindness, Leber congenital amaurosis, achromatopsia, flecked retina disorders, and vitreoretinopathies. The panels also cover syndromes with ophthalmologic manifestations, such as Usher syndrome and Bardet-Biedl syndrome.
What genetic diagnostics can offer for ophthalmology cases
Retinal dystrophies are characterized by remarkable genetic heterogeneity and significant phenotypic overlap between related conditions. Molecular genetic diagnostic testing is the most efficient way to subtype these diseases. High quality testing combined with clinical interpretation provide the necessary information to confidently make individualized treatment and management decisions.
In addition to its value in making a clinical diagnosis, genetic diagnosis is key to understanding the inheritance pattern and prognosis of each disease. Genetic diagnosis can also help in genetic counseling and family planning. Additionally, a potential benefit of genetic diagnosis is the opportunity to access novel therapies.
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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…
In this educational webinar, Professor Moosajee presents recent work in genetic eye disorders, including discoveries, which may provide patients with an answer for their diagnosis, better guide management strategies, and define risks for family members.
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