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.
En esta presentación, nuestra genetista la Dra. Raquel Pérez Carro destacará las ventajas del análisis de exoma trío, mostrando cómo este enfoque facilita el análisis e interpretación de variantes, así como una clasificación más precisa de las mismas y permite completar el estudio genético con una única prueba. A través de ejemplos de casos clínicos, se ilustrará cómo un análisis e interpretación de alta calidad de exoma trío puede ser decisivo a la hora de obtener respuestas para los pacientes.
Date: February 26, 2026 Time: 11:00 AM EST / 5:00 PM CET Whole Exome Sequencing (WES) is a powerful diagnostic tool, especially when performed as a family trio, which typically involves sequencing samples from both parents and their affected child. In this presentation, Dr Saija Ahonen and Dr Kirsty…
Summary Ectodermal dysplasias (ED) are a group of genetic conditions that can affect hair, teeth, nails, and sweat glands, sometimes leading to serious health issues like overheating and infections. To better understand the genetic causes of ED, we reviewed results from 250 patients who underwent next-generation sequencing (NGS) panel testing. These panels…
Please be advised that a specimen collection kit must be requested by a medical professional.
If you are a patient or family member of a patient, please contact your provider to place a kit order on your behalf.
Please note that kit offering might vary regionally due to local restrictions or regulations. For further information, please contact logistics.support@blueprintgenetics.com.