Genetic TestsSotos Syndrome (FISH)

• Test Name: Sotos Syndrome (FISH)
• Test Code: 2391

• Sotos syndrome 1 (OMIM #: 117550) || Gene: NSD1 (OMIM #: 606681)

• NSD1 Deletion
• 5q35 Deletion
• del 5q35
• CEREBRAL GIGANTISM

• Methodology: FISH
• Performed: Everyday
• Reported: 1 week

• Specimen Collection: Peripheral blood
• Container: Tube with Heparin
• Specimen Volume/Amount: > 3 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia

• Dsymorphology
• Neurogenetics