FISH: Sotos syndrome

Test Information
Test Name FISH: Sotos syndrome
Lab (Location) Children's Hospital of Eastern Ontario
Category Chromosomal Anomalies
Subcategory FISH: Sotos Syndrome
Gene/Platform/Region List NSD1, 5q35
Test type Cytogenetic
Samples Accepted Blood, Amniocyte, CVS
Indications Diagnosis Diagnosis, Carrier / Cascade Testing, Prenatal
Test Methodology FISH
Diseases/Conditions Sotos syndrome (Sotos syndrome, cerebral gigantism)
Notes Before requesting this test, please contact the lab for information regarding eligibility and availability of testing for your patient.