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TPMT and NUDT15
Ordering Recommendation
Use this genotyping test to assess genetic risk for severe myelosuppression with standard dosing of thiopurine drugs in individuals for whom thiopurine therapy is being considered or who have had an adverse reaction to thiopurine therapy. This test may be performed irrespective of whether thiopurine therapy is currently being administered.
For enzyme phenotyping prior to thiopurine treatment, refer to Thiopurine Methyltransferase, RBC (0092066). For thiopurine dosing optimization, refer to Thiopurine Metabolites in Red Blood Cells (3016503).
Methodology
Polymerase Chain Reaction (PCR)/Fluorescence Monitoring
Performed
Varies
Reported
5-10 days
New York DOH Approval Status
Specimen Required
Lavender (EDTA), Pink (K2EDTA), or Yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Refrigerated.
Plasma or serum. Specimens collected in sodium heparin or lithium heparin. Frozen specimens in glass collection tubes.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: 1 month
Reference Interval
By report
Interpretive Data
Refer to report
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Laboratory Developed Test (LDT)
Note
Whole blood is the preferred specimen. Saliva samples that yield inadequate DNA quality and/or quantity will be reported as inconclusive if test performance does not meet laboratory-determined criteria for reporting.
Hotline History
CPT Codes
81335; 81306
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 3001536 | TPMT2 Specimen | 31208-2 |
| 3001537 | TPMT Genotype | 41048-0 |
| 3001538 | NUDT15 Genotype | 93194-9 |
| 3001539 | TPMT2 Interpretation | 50398-7 |
Aliases
- 6-mercaptopurine
- 6-MP
- 6-TG
- 6-thioguanine
- AZA toxicity
- Azathioprine
- nucleoside diphosphate linked moiety X
- nudix
- NUDT15 mutation
- S-adenosyl-L-methionine genotype
- Thioguanine
- Thiopurine
- Thiopurine S-methyltransferase genotype
- TPMT genetics
- TPMT mutation
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