Genetic TestsAngelman Syndrome

• Test Name: Angelman Syndrome
• Test Code: 4812

• Angelman syndrome (OMIM #: 105830) || Gene: UBE3A (OMIM #: 601623)

• UBIQUITIN-PROTEIN LIGASE E3A
• 15q11-q13 Deletion (FISH)
• Del 15q11-q13 (FISH)
• UBE3A/D15S10 (FISH)

• 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

• Neurogenetics