UGT1A1 Sequencing
Also known as: UGT1A1 NGS
Use
UGT1A1 sequencing is used to confirm the diagnosis of Gilbert syndrome or Crigler-Najjar syndrome, both of which are characterized by different levels of unconjugated hyperbilirubinemia. This test helps in identifying inherited nonhemolytic unconjugated hyperbilirubinemia related to UGT1A1 deficiency, which can lead to a spectrum of phenotypic expressions based on enzyme activity levels. It is also utilized in pharmacogenetic assessments, particularly when prescribing atazanavir to evaluate the probability of bilirubin-related discontinuation. Furthermore, it assists in dosage planning for patients undergoing high-dose irinotecan treatment.
Special Instructions
Not provided.
Limitations
This test can detect variants within the coding regions, intron-exon boundaries, and the promoter region of the UGT1A1 gene. However, it may not detect deep intronic variants, regulatory region variants other than in the (TA)nTAA promoter, or variants of any size that cannot be detected by massively parallel sequencing. The assay does not focus on low-level mosaic or somatic variants, mitochondrial DNA variants, or repeat expansions. It can be impacted by technical limitations due to pseudogenes, repetitive, or homologous regions.
Methodology
NGS
Biomarkers
UGT1A1
Gene
LOINC Codes
- 66746-9 - Specimen type
- 93844-9 - UGT1A1 gene Full Mut Anl Bld/T Seq
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
2 mL
Container
Lavender (EDTA) or Yellow (ACD solution A or B)
Storage Instructions
Refrigerated
Causes for Rejection
Serum or plasma, grossly hemolyzed or frozen specimens
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 2 weeks |
| Frozen | Unacceptable |
Other tests from different labs that may be relevant