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 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.
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.
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.
In this webinar Ville Kytölä, Director of Bioinformatics Engineering and Mikko Muona, PhD, Senior Bioinformatics Manager from Blueprint Genetics will discuss how to evaluate WGS and WES services, understand key technical and operational criteria to ensure that sequencing projects achieve high-quality, reproducible results.
Read moreIn this webinar, Professor Clair A. Francomano will discuss the various forms and inheritance patterns of EDS, and review the diagnostic utility of genetic testing for EDS.
Read moreIn this webinar, geneticist Anni Niskakoski, PhD, and genomic science specialist Torry Howell, MS, CGC, will review the use of genetic testing in IEIs and the importance of a robust variant curation process to maximize genetic testing results quality and subsequent patient management.
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