N-Acetyltransferase 2 (NAT2) Genotyping

N-Acetyltransferase 2 (NAT2) plays an important role in the detoxication and/or metabolic activation of certain therapeutic drugs, occupational chemicals and carcinogens. The enzyme produced by NAT2 acts on 1% of drugs in current clinical use including isoniazid, a common tuberculosis treatment, and numerous chemicals. Approximately 50% of people in the United States are slow acetylators and 40% intermediate acetylators.

Genelex offers improved detection rates using an extended NAT2 DNA mutation panel which  screens for the seven most frequent single nucleotide polymorphisms (SNPs) of NAT2 including 191G>A, 282C>T, 341T>C, 481C>T, 590G>A, 803A>G, and 857G>A. The NAT2*4 allele encodes for a fully active enzyme and is traditionally considered the wild type (rapid acetylator) allele. The representative four common alleles (haplotypes) that possess signature nucleotide substitutions at positions 341, 590, 857, and 191 are designated NAT2*5, NAT2*6, NAT2*7, and NAT2*14, respectively, and several studies have shown that the members of these clusters are responsible for the slow acetylator phenotype. Analytical specificity and sensitivity for detection of these mutations are >99%.

Specimen Information
Please call Client Services at 800-TEST-DNA (800-837-8362) to obtain specimen kits.

Buccal Swabs: 4 sterile Whatman OmniSwabs™.
Blood: 5-10 cc whole blood lavender-top EDTA or Yellow-top ACD-A tubes.
Turnaround Time: 10 days turnaround (5 day turnaround for STATS)

CPT Codes
NAT2 Mutation DNA Analysis (provided for your guidance only)
81479-Unlisted Code