Dermatology

Genetic testing for dermatology

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.

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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

Webinars

APOE in Focus: Considerations and Guidelines for Genetic Testing

Nov 24, 2021

Variants in APOE are known to play a role in both abnormalities of lipid metabolism and neurologic disease. During this webinar, we will review APOE’s role in coronary artery disease risk and Alzheimer’s disease risk, and address questions and review current guidelines for testing APOE.

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Our service hours during the holiday season

Nov 22, 2021

During November and December, our Helsinki and Seattle laboratories and Customer Support have a few exceptions in opening hours. Please note the closing times when shipping samples. If you have any questions regarding sample reception, we are here to help!   The Helsinki laboratory and Customer Support opening hours during…

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Webinars

Genetic Counselor Awareness Day—Ask our GCs!

Nov 01, 2021

To mark the annual Genetic Counselor Awareness Day, we invite you to join a Q&A session where genetic counselors from the Blueprint Genetics team can answer any questions you may have about the industry and different opportunities available for genetic counselors. They will also share their own experiences and insights working in this field.

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