Cost 
$1,000.00
TAT 
4 weeks
CPT Code 
81406
Test Code 
1289
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) [OMIM #180849] have characteristic facial features, short stature, broad (often angulated) thumbs and great toes, and moderate to severe mental retardation.  Characteristic facial features include arched eyebrows, down-slanting palpebral fissures, a beaked nose with long columella, high arched palate, and grimacing smile.  Mutations of the CREBBP (CREB binding protein) [OMIM #600140] gene have been identified in patients with RSTS.  Approximately 10% of patients with RSTS have 16p13.3 microdeletions involving the CREBBP gene, 30-50% of patients with RSTS have mutations in the CREBBP gene, and approximately 10-20% of patients with RSTS have intragenic deletions or duplications involving one or more exons of CREBBP.

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