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UGT1A1 Sequencing
Ordering Recommendation
Preferred test to confirm diagnosis of Gilbert (benign familial hyperbilirubinemia) or Crigler-Najjar syndrome. May be used when prescribing atazanavir to assess likelihood of bilirubin-related discontinuation. May also be useful in dosage planning for individuals who will receive high-dose irinotecan or experience neutropenia while receiving irinotecan.
New York DOH Approval Status
Specimen Required
Lavender (EDTA) or yellow (ACD solution A or B).
New York State Clients: Lavender (EDTA)
Transport 3 mL whole blood. (Min: 2 mL)
Refrigerated.
Serum or plasma, grossly hemolyzed or frozen specimens
Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: Unacceptable
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
10-15 days
Reference Interval
By report
Interpretive Data
Refer to report.
Laboratory Developed Test (LDT)
Note
Gene Tested: UGT1A1 (NM_000463), promoter (NC_000002)
Deletion/duplication analysis is not available for this gene.
Hotline History
CPT Codes
81404
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 3004387 | UGT1A1 Specimen | 66746-9 |
| 3004388 | UGT1A1 Interp | 93844-9 |
Aliases
- Atazanavir prescribing
- Crigler-Najjar syndrome type I or II
- Gilbert syndrome
- Irinotecan toxicity
- pharmacogenetics
- pharmacogenomics
