Cost 
$1,000.00
TAT 
4 weeks
CPT Code 
81404
Test Code 
1139
Test Methods 
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Cultured Cells
Extracted DNA
Disorders 
Genes 
Notes 
If sending saliva, 2 kits are required.

DCX [OMIM#300121] abnormalities result in severe lissencephaly or SBH in boys, but a less severe SBH in girls.  DCX abnormalities are generally associated with an a>p gradient.  In males, DCX mutations are present in approximately 30% with SBH and approximately 10% with lissencephaly.  In females, DCX mutations are present in approximately 80% with SBH, especially those with diffuse bands or bilateral frontal only bands.  Intragenic deletions of the DCX gene are present in approximately 10% of female patients with SBH in whom no mutations were identified by DCX sequencing. Deletions and/or duplications in the DCX gene as causative of lissencephaly have been reported. Dr. William Dobyns at the Seattle Children’s Research Institute is available to review MRI scans and give recommendations regarding genetic testing.  Please contact Dr. Dobyns (wbd@uw.edu) or his coordinators, Carissa Adams (carissa.adams@seattlechildrens.org) and Brandi Bratrude (brandi.bratrude@seattlechildrens.org) to arrange this, if desired.