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

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Resources

Prenatal Test Requisition with Natera NIPT
Prenatal Test Requisition with Sequenom NIPT
General Test Requisition
Chromosomal Microarray Information Sheet