Dermatology

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.

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Latest news and resources

Our commitment to providing you with high-quality service during COVID-19

Mar 17, 2020

Blueprint Genetics is closely monitoring the ongoing spread of the Coronavirus Disease 2019 (COVID-19) and its impact on the current health environment. We are taking all measures to prepare for exceptional circumstances during this time to ensure we continue to meet the needs of healthcare professionals and the patients they…

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Mar 16, 2020

Date: April 16 Time: 9:00 AM PST / 18:00 PM CEST This is our annual educational webinar on variants of uncertain significance. Join for an updated overview this April! Variants of uncertain significance (VUS) are often thought of as an undesirable result in genetic testing. Is…

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