NUDT15 Genotype and TPMT TPNUQ

Synonyms
Allscripts (AEHR) Order Name	NUDT15 Genotype and TPMT
Sunrise Clinical Manager (SCM) Order Name	NUDT15 Genotype and TPMT
Clinical Info	The thiopurine methyltransferae (TPMT) and nudix hydrolase 15 (NUDT15) genes encode drug-metabolizing enzymes involved in the metabolism of several clinically important drugs, including the immunosuppressant's azathioprine, mercaptopurine and thioguanine.
Specimen Type	Blood
Container	Lavender Top Tube
Collection Instructions	Container/Tube: Lavender Top Tube Specimen: 2 mL whole blood (1 ml min) Transport Temperature: Room Temperature
Transport Instructions	Room Temperature
Specimen Stability	28 Days Room Temperature 28 Days Refrigerated 2 Years Frozen
Methodology	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.
Days Performed
Performing Laboratory	LabCorp to Monogram Bioscience
CPT	81306 81335 Loinc Code: 93193-1
PDM	235499
Result Interpretation See Report The TPMT and NUDT15 enzymes have similar functions in a shared thiopurine-metabolizing pathway; genotype and metabolic activity for TPMT and NUDT15 may therefore be considered together when assessing possible effects on drug response. Individuals with some variant TPMT and NUDT15 alleles may experience a reduced therapeutic response and may be at risk for side effects from drugs that are metabolized by TPMT and NUDT15. TPMT and NUDT15 genotype information can be utilized to predict TPMT and NUDT15 metabolic activity, which can be used as an aid in determining a therapeutic strategy for drugs that are metabolized by TPMT and NUDT15. For example, thiopurine use in an individual with poor or intermediate TPMT and/or NUDT15 metabolism is associated with an accumulation of cytotoxic metabolites and an increased risk for myelosuppression. In these instances, alternative doses or drugs may be considered. Variation in the TPMT and NUDT15 genes can result in normal (NM), intermediate (IM), possible intermediate (Poss IM), poor (PM) and indeterminate (IND) drug-metabolizing phenotypes. In general, relative to the 1 allele (normal function), TPMT 2, 3A, 3B, 3C and NUDT15 2 and 3 alleles have no function, while the NUDT154 allele has an uncertain function.
Forms