Cost 
$1,000.00
TAT 
4 weeks
CPT Code 
81405
Test Code 
1151
Test Methods 
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Cultured Cells
Extracted DNA
Notes 
If sending saliva, 2 kits are required.

Bilateral frontoparietal polymicrogyria (BFPP) [OMIM #606854] is characterized by moderate-severe mental retardation, seizures, dysconjugate gaze, and characteristic radiological findings.  Mutations of the GPR56 [OMIM #604110] gene, or G-protein coupled receptor 56, have been identified in patients with BFPP.   Piao X, et al [2005] studied patients with BFPP along with some patients with other polymicrogyria syndromes.  All 29 patients with BFPP were found to be homozygous for GPR56 mutations.  However, no patients without the BFPP cortical distribution or without both white matter and posterior fossa changes were found to mutations in GPR56. Deletions and/or duplications of the GPR56 gene as causative of disease have been reported.