ERCC8 Deletion/Duplication

Test Background

Mutations in the excision-repair cross-complementing-6 and 8 (ERCC6 and ERCC8) genes cause Cockayne syndrome type B (CSB) and type A (CSA) respectively. CSB is more common than CSA. Approximately 75% of cases of Cockayne syndrome are due to mutations in the CSB/ERCC6 gene, and most of the remaining 25% are due to mutations in the CSA/ERCC8 gene. A small number of cases are due to a deletion/duplication in either the ERCC6 or ERCC8 gene. This laboratory performs both Sanger sequencing and deletion/duplication by MLPA for both genes.



Lab Method


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.

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