UBE3A Gene Analysis Full Gene Sequence
Label Mnemonic: UBE3A
Epic Lab Code: LAB5802
Downtime Form: A-1a Miscellaneous Request
Commercial Mail-out Laboratory
5231 RCP
356-8593
Specimen(s):
Whole Blood
Collection Medium:
and
Pink top tube 6 mL (K2-EDTA) Pink top tube 6 mL (K2-EDTA)
Alternate Collection Media:
Yellow top tube 8.5 mL (ACD solution A)
Minimum:
Preferred Minimum: 5-10 mL whole blood collected in an EDTA (pink top) tube. Pediatric Minimum: 3 mL whole blood collected in an EDTA (pink top) tube.
Turn Around 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.

This mailout test requires pathologist approval for orders during inpatient encounters. Mailouts staff will not process order without approval. The pathologist covering mailouts approval can be reached at pager #5379. If approval is given, the name of the pathologist can be selected in the drop-down menu to the right of the approval warning in Epic when ordering the test.

The reference laboratory offers a known familial variant test. If you want to order the known familial variant version of the test, please order LAB7857.
CPT Code:
81406
81403 (known familial variant)