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.
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.
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.
Summary The yield of genetic testing in patients with hereditary neuropathy (HN) has not consistently included the mitochondrial genome (MG). To address this, we performed a retrospective review of 661 reports from individuals suspected of having HN who had multi-gene panel testing (MGPT) at Blueprint Genetics. One of every four…
Read moreIn this webinar, Alicia Scocchia, MS, CGC will review the use of genetic testing in individuals with cystic kidney disease and pose considerations for genetic test selection, based on published literature and the experience of Blueprint Genetics.
Read moreIn this talk, Dr Wells will demonstrate how high quality whole-exome sequencing, analysis and interpretation lead the way in unlocking answers in the most challenging cases. Dr Raquel Pérez will review the capabilities of an NGS-based mtDNA assay performed in parallel with nuclear DNA analysis and outline key considerations for mitochondrial genome testing and reporting.
Read more