Specimen:

Whole Blood

Collection Medium:

Alternate
Collection Media:

Yellow top tube (ACD solution A)

Minimum:

Preferred Minimum:  5-10 mL whole blood collected in an EDTA (lavender 
top) tube.

Pediatric Minimum:  3 mL

Analytic Time:

6 weeks

Reference Range:

See report

Interpretive Data:

Angelman syndrome is characterized by severe motor and intellectual 
retardation, absence of speech, ataxia and a characteristic 
open-mouthed face. Other features such as hypotonia, epilepsy and 
excessive laughter help in the diagnosis of the condition. Mutations in 
the ubiquitin-protein ligase E3A gene (UBE3A) located on chromosome 15 
are known to be associated with a subset of Angelman syndrome cases. 
UBE3A is specifically imprinted in the brain where it is only expressed 
from the maternal allele. In individuals that retain the clinical 
diagnosis of Angelman syndrome following normal methylation studies, 
UBE3A sequencing studies should be given strong consideration. In cases 
where UBE3A mutation studies identify an alteration, extended family 
studies may be pursued and prenatal testing offered.

Comments:

Please print, complete and submit the Molecular Diagnostic Request 
Form from Greenwood Genetic Center, with the specimen and the A-1a 
Miscellaneous Request.

CPT Code:

83890, 83898 (x12), 83904 (x5), 83909 (x5), 83912
The cpt's listed are testing for unknown mutational analysis.