DCX Deletion/Duplication

Test Background

Mutations in the DCX gene are associated with X-linked lissencephaly in hemizygous males and subcortical band heterotopia (SBH), which gives the appearance of a "double cortex" in heterozygous females. A few rare missense mutations have been reported to cause SBH in males. Deletions/duplications account for a small percentage of mutations in females with SBH and also exist in males with lissencephaly. A combination of DNA sequencing and deletion/duplication analysis of the DCX gene is expected to detect abnormalities in approximately 90% of individuals with SBH, 100% of familial cases, and 53-80% of sporadic cases.

Gene(s)

DCX

Lab Method

MLPA

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.

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