Detects deletions and duplications involving the UBE3A gene on 15q11.2 within the Angelman syndrome (AS) critical region. Reciprocal duplication of this region is associated with chromosome 15q11-q13 duplication syndrome.
If both chromosome and FISH tests are ordered, only 1 tube is needed.
Specimen collection instructions Test Ordering For Excellian Users:
Order test place holder according to specimen type.
Answer the questions in Excellian to select the test name and complete the test order.
Specimen = Congenital Blood (LAB4280F)
For prenatal diagnosis, please call the lab and discuss with the Cytogenetics lab director.