Our panels include over 3,900 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 in the field of dermatology is becoming increasingly advantageous. Testing for albinism is an excellent example of using genetic testing in dermatology. Genetic testing makes it possible to differentiate isolated ocular/oculocutaneous albinism from syndromic albinism, which is present in many disorders such as Hermansky- Pudlak, Chediak-Higashi, Griscelli, and Waardenburg syndromes. Moreover, genetic diagnostics provides prognostic information about visual impairment caused by oculocutaneous albinism. It also predicts the outcome of syndromic albinism in Griscelli syndrome, where the type 1 syndrome is associated with severe neurological disease, and type 2 is associated with severe immunodeficiency.
What genetic diagnostics can offer patients with dermatological diseases
Genetic diagnostics is the most efficient way to subtype hereditary dermatological diseases. A diagnosis provides the necessary information to make confident individualized treatment and management decisions. Moreover, detection of the causative mutation establishes the mode of inheritance within the family, which is essential for well-informed genetic counseling. Identifying family members at risk makes it possible to begin preventive treatments and/or make lifestyle recommendations. It also justifies routine follow-ups by healthcare professionals. Genetic diagnosis can also help in family planning.
The My Retina Tracker Program, a collaboration between Blueprint Genetics, Foundation Fighting Blindness and InformedDNA, is an open access, no-cost program that offers individuals with IRD living in the US easy access to high-quality genetic diagnostics and genetic counseling. AGTC joins the program as a new scientific collaborator to enhance development of their investigational gene therapy for inherited retinal diseases (IRD).
In this webinar, Laboratory Director Dr Jennifer Schleit will provide an overview of multiple genetic testing technologies and their applications, with a focus on next-generation sequencing (NGS). This webinar is intended for individuals with less experience ordering genetic testing or who would like to refresh their knowledge on genetic testing technologies.
In this educational webinar, North American Marketing Manager Joe Jacher, MS, CGC and Executive Medical Director Dr Tero-Pekka Alastalo, MD, PhD will provide an introduction to genetic testing for inborn errors of immunity and examine Blueprint Genetics’ experience sequencing thousands of individuals suspected of having an inborn error of immunity.