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Genetic and Rare Diseases Information Center (GARD)

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* Not a rare disease
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Your Question

Could you please let me know the name of the blood or genetic test used to diagnose or identify a vitiligo carrier?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What genes are related to vitiligo?

Variations in the NLRP1 and PTPN22 genes have been associated with an increased risk of developing vitiligo. Studies have suggested that variations in a number of other genes may also have an influence, but most of these associations have not been confirmed. Many of these genes are involved in the function of the immune system. Some of the gene changes associated with an increased risk of vitiligo have also been associated with an increased risk of other autoimmune conditions.[1]

It remains unclear what specific circumstances trigger the immune system to attack the pigment cells (melanocytes) in the skin. Vitiligo probably results from a combination of genetic and environmental factors, most of which have yet to be identified.[1]  

Last updated: 11/20/2012

Is genetic testing currently available for vitiligo?

We are not aware of any genetic testing currently available for vitiligo. We strongly encourage you to discuss this possibility with a genetics professional.

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 at 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: 11/20/2012