UDP-Glucuronosyltransferase 1A1 (UGT1A1), Full Gene Sequencing, Varies
Use
This test is useful for diagnosing genetic syndromes such as Crigler-Najjar syndrome type I and II, and Gilbert syndrome. It can establish carrier status for these syndromes, identify individuals at risk of hyperbilirubinemia, and predict adverse drug reactions related to UGT1A1-metabolized drugs. Additionally, the test is helpful in detecting individuals who may experience increased drug levels when taking dolutegravir or raltegravir. Furthermore, it serves as a follow-up test for suspected UGT1A1 variants when TA repeat region testing is negative.
Special Instructions
This test screens for gene sequence variants associated with adverse drug reactions when using UGT1A1-metabolized drugs like atazanavir and irinotecan. It also identifies variants linked to congenital hyperbilirubinemia, including Gilbert syndrome and Crigler-Najjar syndrome types I and II.
Limitations
The test does not include deletion or duplication analysis of the UGT1A1 gene. It focuses solely on sequencing the full UGT1A1 gene, including the TA repeat region of the promoter and all intron/exon boundaries, for hereditary hyperbilirubinemia syndromes and UGT1A1-related drug metabolism.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided