Angelman Syndrome FISH Analysis
Related Gene(s): ATPIOA. GABRB3, UBE3A
Angelman syndrome (chromosome location 15q11.2q13) FISH (fluorescence in situ hybridization) is offered for diagnosis of individuals with clinical features of Angelman syndrome, including severe intellectual disability, severe speech impairment, or seizures. The detection rate of FISH analysis for this disorder is approximately 70%.
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 (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