Cost 
$1,000.00
TAT 
4 weeks
CPT Code 
81405
Test Code 
1223
Test Methods 
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Cultured Cells
Extracted DNA
Genes 
Notes 
If sending saliva, 2 kits are required.

Sotos syndrome is characterized by characteristic facial features, developmental delay, and increased height and head circumference.  Other features may include: neonatal jaundice, scoliosis, seizures, strabismus, conductive hearing loss, congenital heart defects, renal anomalies, and behavioral problems.  Microdeletions and mutations of the NSD1 gene have been identified in approximately 80% of patients with a clinical diagnosis of Sotos syndrome.  Recently, intragenic deletions of one or more exons of NSD1 have been reported in approximately 5% of patients with a clinical diagnosis of Sotos syndrome.

Contact the Sotos Syndrome Support Association (www.well.com/sssa/) for more information.