N-Acetyltransferase 2 (NAT2) Genotype, Varies
Use
This assay identifies patients at risk for altered metabolism of drugs metabolized by arylamine N‑acetyltransferase type 2—such as isoniazid—by assigning NAT2 genotype and predicting acetylator phenotype (slow, intermediate, or rapid) based on haplotype combinations. Genotypes guide metabolizer phenotype inference to support dosing decisions and reduce risk of adverse reactions.
Special Instructions
Not provided.
Limitations
Some rare NAT2 variants may not be detected by this method. Cis/trans status of multiple variants may not be resolved, potentially yielding ambiguous diplotypes. Post-transplant or transfusion samples (blood or liver transplant, or recent transfusion) may contain donor DNA and not reflect recipient genotype. Absence of detected variants does not rule out other undetected variants.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
LOINC Codes
- 101141-0 - NAT2 Mut Anl Bld/T
- 101142-8 - NAT2 gene allele Geno Bld/T
- 101143-6 - NAT2 gene prod met activ imp Bld/T-Imp
- 69047-9 - Geneticist review
- 48767-8 - Annotation comment Imp
- 85069-3 - Lab test method
- 62364-5 - Test performance info Spec
- 18771-6 - Provider signing name
Result Turnaround Time
3-8 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
0.4 mL
Container
Lavender top (EDTA)
Collection Instructions
Invert several times to mix blood; send in original tube without aliquoting.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 9 days |
| Refrigerated | 30 days |