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Test ID: UGTK    
UDP-Glucuronosyl Transferase 1A1 (UGT1A1) Gene, Known Mutation

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Useful For Suggests clinical disorders or settings where the test may be helpful

Identifying the presence of a UGT1A1 variant when the variant has been previously identified in a family member (carrier or affected)

Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request

This test is only performed when a family member has had a UGT1A1 gene variants previously detected. Documentation of the specific familial UGT1A1 variants must be provided with the specimen in order to perform this test.

Profile Information A profile is a group of laboratory tests that are ordered and performed together under a single Mayo Test ID. Profile information lists the test performed, inclusive of the test fee, when a profile is ordered and includes reporting names and individual availability.

Test IDReporting NameAvailable SeparatelyAlways Performed
UGTKMUGT1A1 Gene, Known MutationNoYes
UGTKQUGT1A1 Known Mutation SequencingNoYes

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

See UGT1A1 Test-Ordering Algorithm in Special Instructions.

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 Site-Specific Gene Sequencing 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

UGT1A1 Gene, Known Mutation

Aliases Lists additional common names for a test, as an aid in searching

Crigler-Najjar Syndrome
Gilbert Syndrome
GNT1
Hyperbilirubinemia
Phenol/Bilirubin UDP-Glucuronosyltransferase
UDP-Glucosyltransferase 1
UGT1A1
Uracil Glucuronyl transferase
Uridine Diphosphate Glucosyltransferase 1

Key