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.
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.
In this webinar, Senior Manager of Genomic Services, Kim Gall, MSc, CGC, will review this group of disorders, the genetics of IRD, and how to navigate genetic testing to maximize diagnoses in the clinic.
Ending the diagnostic odyssey for your patient: The need for precise testing and accurate analysis Satellite Session: Saturday, June 12 – 12:15-13:00 CEST Part I: Choosing the right genetic testing strategy, can one size fit all? With the rapid advance of new genetic analysis technology and increased choice…
During this educational webinar, Laboratory Director Dr Jennifer Schleit and certified genetic counselor Christèle du Souich, will delve into an in-depth discussion on variants of uncertain significance, exploring both the clinical team and diagnostic laboratory’s perspective.
Please be advised that we only accept specimen collection kit requests from medical professionals. If you are a patient or family member of a patient, please contact your provider to place a kit order on your behalf.You can order up to 10 kits per type and 30 kits total. If you need more kits, please contact our customer support team.