In this educational webinar, Clinical Development Manager Dr Johanna Sistonen will review the latest advancements in analyzing difficult-to-sequence regions. We will provide insight into our own troubleshooting strategies for challenging cases and our approach to customized sequencing and bioinformatic solutions.Read more
Genetic testing for dermatology
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.
How to order
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.
Latest news and resources
We spoke with Dr Reddy about how she utilizes genetic testing when caring for patients with an ophthalmologic disorder and what she looks for in a test. She provides insight into the positive effects of ordering genetic testing for her patients and discusses the benefits of the My Retina Tracker Program, an open access genetic testing program for patients in the US with inherited retinal disease. Finally, she shares her thoughts on what the future of ophthalmology will look like and the role that genetic testing plays.Read more
Akouos and Blueprint Genetics Announce the Resonate Program to Improve Access to Genetic Testing for Individuals with Auditory Neuropathy
Genetic testing to eligible individuals with auditory neuropathy at no cost to participants, their insurance, or their healthcare providers.Read more