Test ID: UBEMS
UBE3A Gene, Full Gene Analysis
NY State Approved
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Conditional
Useful For
Suggests clinical disorders or settings where the test may be helpful
Confirmation of a diagnosis of Angelman syndrome in patients who have previously tested negative by methylation analysis
Genetics Test Information
Provides information that may help with selection of the correct test or proper submission of the test request
Testing includes full gene sequencing of the UBE3A gene
Reflex Tests
Lists test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| FBC | Fibroblast Culture for Genetic Test | Yes | No |
Testing Algorithm
Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
If skin biopsy is received, fibroblast culture will be added and charged separately.
Special Instructions and Forms
Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test
Method Name
A short description of the method used to perform the test
Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)
Reporting Name
A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
UBE3A Gene, Full Gene Analysis
Aliases
Lists additional common names for a test, as an aid in searching
Angelman Syndrome


