XPA Sequencing

Test Background

Xeroderma pigmentosum (XP) is characterized by sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure, marked freckle-like pigmentation of the face before age two years), ocular involvement (photophobia, keratitis, atrophy of the skin of the lids), and a greatly increased risk of cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma). Xeroderma Pigmentosum (XP) includes complementation groups A through G (XPA-XPG) and XP variant. Mutations in the following genes are associated with each XP group: XPA (XPA), ERCC3 (XPB), XPC (XPC), ERCC2 (XPD), DDB2 (XPE), ERCC4 (XPF), ERCC5 (XPG), and POLH (XP-Variant). Mutations in XPA and XPC account for about 50% of XP patients. XP is inherited in an autosomal recessive manner.

This laboratory performs Sanger sequencing of the XPA gene.

Disorder(s)

Xeroderma pigmentosum (XP)

Gene(s)

XPA

About Claritas

Claritas Genomics serves children affected with complex genetic disorders by providing timely and accurate results, resolving families’ long search for answers. By combining clinical expertise of the world’s best pediatric specialists with innovative platform solutions, Claritas is working to improve patient care and enable new discoveries. We are committed to the highest quality and accessibility of information and our interpretive services and unique approach to reporting set the standard for reliably and clearly communicating genetic information.

Now is the time to integrate genomics into clinical practice to inform, guide and improve medical treatment for kids around the world.