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
  • Ship to:
    Sema4
    62 Southfield Ave, Stamford, CT 06902
    Phone: 800-298-6470 / Fax: 646-859-6870

 

Turnaround Time:

  • Prenatal: 6-10 days
  • Postnatal: 6-10 days

 


Resources

Prenatal Test Requisition, including carrier screening and Noninvasive Prenatal Select
General Test Requisition
Chromosomal Microarray Information Sheet