Cost 
$1,000.00
TAT 
4 weeks
CPT Code 
81406
Test Code 
1291
Test Methods 
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Cultured Cells
Extracted DNA
Genes 
Notes 
If sending saliva, 2 kits are required.

Patients with Rubinstein-Taybi syndrome (RSTS)  have characteristic facial features, short stature, broad (often angulated) thumbs and great toes, and moderate to severe mental retardation.  Facial features include arched eyebrows, down-slanting palpebral fissures, a beaked nose with long columella, high arched palate, and grimacing smile. 

Mutations of the EP300 gene have been identified in approximately 3% of patients with RSTS. 

Deletions and/or duplications in the EP300 gene as causative of Rubinstein-Taybi syndrome have been reported.