Genetic TestsSotos NSD1 Gene Sequencing

• Test Name: Sotos NSD1 Gene Sequencing
• Test Code: 4057

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

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

• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 8 weeks

• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia

• Dysmorphology
• Neurogenetics