TPMT and NUDT15 Genotyping

Nudix Hydrolase 15, Thiopurine Methyltransferase

14 days

DNA analysis is performed by allele-specific real-time polymerase chain reactions (RT-PCR) to detect single-nucleotide polymorphisms (SNPs) within the TPMT and NUDT15 genes and to assign variant TPMT *2, *3A, *3B and *3C and NUDT15 *2, or *3 and *4 alleles, *1 denotes detection of the reference (wild-type) sequence at the assessed alleles. No other variants in this gene are detected by this assay.

Cause for Rejection: Haemolysis, quantity not sufficient for analysis, improper container, single buccal swab, wet buccal swab, buccal swabs without outer collection envelope, severly damaged buccal swab envelope, buccal swab envelope received open, frozen glass tube.

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Genetic test to predict metabolism of thiopurine drugs and risk of toxicity.

Whole Blood or LabCorp buccal swab kit (buccal swab collection kit contains 4 swabs and instructions for use of a buccal swab)

2 mL whole blood or one buccal swab kit (4 swabs)

Lavender-top (EDTA) tube or yellow-top (ACD) tube or LabCorp buccal swab kit

No special preparation is required for this test. You may eat, drink, and take your medications as normal, unless instructed otherwise by your healthcare provider.

Collect specimen in a lavender-top (EDTA) or yellow-top (ACD) tube, or use a buccal swab kit (4 swabs). Ship whole blood specimen at room temperature or frozen. Ship buccal swab kit at room temperature.