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.

Mnemonic

UGT1A1 NGS

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

3 weeks

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation
Collect

Lavender (EDTA) or Yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 2 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

By report

Interpretive Data

Refer to report.   

Compliance Category

Laboratory Developed Test (LDT)

Note

Gene Tested: UGT1A1 (NM_000463), promoter (NC_000002)
Deletion/duplication analysis is not available for this gene.

Hotline History

N/A

CPT Codes

81404

Components

Component Test Code* Component Chart Name LOINC
3004387 UGT1A1 Specimen
3004388 UGT1A1 Interp
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • Atazanavir prescribing
  • Crigler-Najjar syndrome type I or II
  • Gilbert syndrome
  • Irinotecan toxicity
  • pharmacogenetics
  • pharmacogenomics
UGT1A1 Sequencing