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)

Lab Method

MLPA