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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Darier disease


Other Names for this Disease

  • Darier White Disease
  • Darier's disease
  • Keratosis follicularis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

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Is genetic testing available for Darier disease?

GeneTests lists the names of laboratories that are performing genetic testing for Darier disease. To view the contact information for the clinical laboratories conducting testing, click here

Please note:  Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.  Below, we provide a list of online resources that can assist you in locating a genetics professional near you.

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 7/20/2011

How is Darier disease diagnosed?

Darier disease is usually diagnosed by its appearance on the skin and family history. Diagnosis may also require a skin biopsy from the affected individual. [1] Genetic testing to identify mutations in the  ATP2A2  gene can also be used to confirm the diagnosis.[2]
Last updated: 7/19/2011

References
  1. Stanway A. Darier Disease. DermNet NZ. March 2011; http://www.dermnetnz.org/scaly/darier.html. Accessed 7/11/2011.
  2. Kwok PY, Fitzmaurice S. Darier disease. Medscape Reference. September 21, 2012; http://emedicine.medscape.com/article/1107340-overview. Accessed 3/6/2014.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • Darier White Disease
  • Darier's disease
  • Keratosis follicularis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.