Cost 
$1,000.00
TAT 
4 weeks
CPT Code 
81406
Test Code 
1222
Test Methods 
Sequencing
Specimen Types Accepted 
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA
Genes 

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. Mutations of the NSD1 gene have been identified in approximately 75% 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 and support.