Sotos Syndrome 1 FISH Analysis
Related Gene(s): NSD1
Sotos syndrome (5q35) FISH (fluorescence in situ hybridization) is offered for diagnosis of individuals with clinical features of Sotos syndrome, including a disproportionately large skull with protrusive forehead, large hands and feet, autism, intellectual disability, and delayed cognitive and social development. The detection rate of deletion/duplication by FISH analysis for this disorder is approximately 95%.
Specimen Requirements
Prenatal
- Amniotic fluid: Minimum total specimen size 15 mL
- Chorionic villi: Minimum total specimen size 4 mg
Postnatal
- Whole blood: Minimum 5-10 mL in sodium heparin tube (green top)
Ordering Information
Shipping
- Ship at room temperature
Turnaround Time
- Prenatal: 5-7 days
- Postnatal: 7-10 days
Related Tests
Resources
Prenatal Test Requisition with Sequenom NIPT
General Test Requisition
Chromosomal Microarray and Microdeletion FISH Panel Information Sheet