Thiopurine Dosage Pharmacogenomic Testing (TPMT & NUDT15 Panel)

Alternate test name

6-Mercaptopurine Dosage Pharmacogenomic testing, TaqMan SNP Genotyping Assay for Thiopurine S-methyltransferase (TPMT) & Nudix Hydrolase 15 (NUDT15), TPMT Genotyping, NUDT15 Genotyping, Thiopurine and/or 6-Mercaptopurine Dosage recommendation

Gene name / Alternate gene name

TPMT - TPMTD, Thiopurine S-methyltransferase, Thiopurine Methyltransferase

NUDT15 - MTH2 (MutT homolog 2), NUDT15D, FLJ10956, Nudix hydrolase 15, nuclease diphosphate-linked moiety X-type motif 15

Lab area

Haematopathology - Molecular

Method and equipment

Real Time PCR for the detection of:

TPMT (NM_000367.5) c.238G>C

TPMT (NM_000367.5) c.460G>A

TPMT (NM_000367.5) c.719A>G

NUDT15 (NM_018234.4) c.415C>T

Expected turn-around time

10 Business Days

Specimen type

Bone Marrow Aspirate or Blood in EDTA (Lavender top tube) at room temperature (minimum 2 mL)

Specimen requirements

Bone Marrow Aspirate or Blood in EDTA (Lavender top tube) at room temperature (minimum 2 mL)

Storage and transportation

Keep specimen at room temperature

Shipping information

The Hospital for Sick Children

Rapid Response Laboratory

555 University Avenue, Room 3642

Toronto, ON

Canada

M5G 1X8

Phone: 416-813-7200

Toll Free: 1-855-381-3212

Hours: 7 days/week, 24 hours/day

Requisition

Thiopurine Dosage Pharmacogenomic Testing (TPMT & NUDT15 Panel) - requisition

Background and clinical significance

All patients diagnosed with ALL or LBL will be screened for TPMT & NUDT15 polymorphisms after diagnosis of ALL or LBL, and prior to treatment with 6-mercaptopurine. The test result will determine the dose of 6-mercaptopurine according to an existing protocol for those with TPMT and/or NUDT15 polymorphisms associated with decreased metabolism of 6-MP, and at high risk for drug-induced prolonged severe pancytopenia.