Sotos syndrome

One in a group of disorders resulting in overgrowth, Sotos syndrome is characterized by an unusually large size at birth,learning disabilities, and increased height and head circumference. It is associated with neonatal jaundice, scoliosis, seizures, conductive hearing loss, congenital cardiac anomalies, renal anomalies, and behavioral problems. There is an increased risk of cancer with this and other overgrowth syndromes.

NSD1 is the only known gene to be associated with Sotos syndrome. About 80-90% of individuals with Sotos syndrome have a mutation or deletion of NSD1.

We recommend sequencing as a first tier test. If a mutation is not found FISH is the second tier test.

Methodology: Fluorescent in Situ Hybridization (FISH) Analysis

Purpose: Confirmation of Clinical Diagnosis

ICD-9 Code 759.89

Test Requisition: Cytogenetics Requisition

CPT Codes: 88230, 88271, 88274, 88291 Cost: $655.00

Turn-around-time: 10-14 days