Test Name
Angelman Syndrome deletion 15q11-13 by FISH*
Test Code
F AS
Synonyms
del(15q)(q11.2q13), SNRPN, CEP15, PML
Associations
Angelman Syndrome
CPT Codes
88377
Turnaround Time
9
Specimen Requirements
5mL peripheral blood in sodium heparin Fixed cytogenetically prepared cells in sterile centrifuge tube with pellet visible in 3:1, Methanol:Acetic Acid
Specimen Stability
Blood = 4°C to 25°C, specimens are stable up to 72 hours Fixed cell pellets are stable for years when stored at -28°C to -15°C
Storage & Handling
4°C to 25°C during transit, but specimens may be transported on refrigerated gel packs. Do not allow the gel pack to come in contact with the specimen. Do not freeze. Extreme temperatures should be avoided.
Causes for Rejections
Clotted Specimen; Specimen exposed to extreme temperature; Anticoagulant or collection vessel toxic to cells; Insufficient number of cells; Specimen exposed to fixative
Description
Angelman syndrome is a complex genetic disorder related to chromosome 15. Mutations in the UBE3A gene cause Angelman syndrome. People normally inherit one copy of the UBE3A gene from each parent. Both copies of this gene are active in many of the body's t
