FISH: Sotos syndrome

Test Information

Title
FISH: Sotos syndrome
Category
Chromosomal Anomalies
Test Name (CMS Title)
FISH: Sotos Syndrome
Gene/Platform/Region List
NSD1, 5q35
Test type
Cytogenetic
Samples Accepted
Blood
Indications
Diagnosis, Carrier Cascade Testing
Test Methodology
FISH
Methodology Notes
Metaphase FISH
Disease/Condition
Sotos syndrome (Sotos syndrome, cerebral gigantism)

Last Updated: November 14, 2025