Cost 
$1,000.00
TAT 
4 weeks
CPT Code 
81404
Test Code 
1281
Test Methods 
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Cultured Cells
Extracted DNA
Notes 
If sending saliva, 2 kits are required.

Mutations of the MEF2C gene [OMIM # 600662] have been identified in patients with severe mental retardation, stereotypic movements, hypotonia, and epilepsy.  Patients can also present with facial dysmorphic features and cerebral malformations.  Brain imaging is typically abnormal, including nonspecific anomalies of the corpus callosum, enlarged ventricles, periventricular white matter hyperintensities and cortical atrophy.  Phenotypic overlap exists between patients with MEF2C mutations and atypical Rett syndrome. Zweier, et al, 2010 detected four de novo mutations in MEF2C in 362 patients with severe mental retardation of unknown etiology.  Gross deletions of 5q14.3 including partial and whole deletions of MEF2C have also been reported.