Connect Sign In
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).
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
Methodology
Polymerase Chain Reaction (PCR)/Fluorescence Monitoring
Performed
Varies
Reported
5-10 days
Reference Interval
By report
Interpretive Data
Refer to report
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Laboratory Developed Test (LDT)
Note
Hotline History
Hotline History
CPT Codes
81335; 81306
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 2012240 | TPMT Predicted Phenotype | 36922-3 |
| 3001536 | TPMT2 Specimen | 31208-2 |
| 3001537 | TPMT Genotype | 41048-0 |
| 3001538 | NUDT15 Genotype | 93194-9 |
| 3001539 | TPMT2 Interpretation | 50398-7 |
| 3016872 | NUDT15 Phenotype | 93194-9 |
| 3016873 | EER TPMT and NUDT15 | 11526-1 |
Aliases
- 6-mercaptopurine
- 6-MP
- 6-TG
- 6-thioguanine
- AZA toxicity
- Azathioprine
- S-adenosyl-L-methionine genotype
- Thioguanine
- Thiopurine
- Thiopurine S-methyltransferase genotype
- TPMT genetics
- TPMT mutation
- NUDT15 mutation
- nudix
- nucleoside diphosphate linked moiety X
