MD Focused Pharamacogenomics Genotyping Assay

Genetic polymorphisms resulting in altered function of enzymes that metabolize chemotherapy drugs can potentially lead to drug toxicity or reduced efficiency. DPYD testing identifies genetic variants causing dihydropyrimidine dehydrogenase (DPD) deficiency, which prevents safe metabolism of fluoropyrimidine chemotherapy (5-FU, capecitabine). It has high clinical utility for identifying patients at risk of severe, life-threatening toxicity. Certain variants in the UGT1A1 gene cause decreased production of the functional enzyme, UDP-glucuronosyltransferase, responsible for bilirubin metabolism leading to hyperbilirubinemia. It has a clinical utility for predicting increased risk of toxicity to Irinotecan therapy

DNA extracted from the patient's specimen is analyzed using a laboratory-validated custom Thermo Fisher Scientific pharmacogenomics (PGx) real-time PCR assay. Testing is performed in a 384-well coated-plate format on the QuantStudio™ 7 Flex Real-Time PCR System. The assay provides qualitative detection of the targeted variant listed in the tables below through allele-specific amplification and fluorescence detection. All detected variants included in the assay panel are reported. Corresponding wild-type alleles are simultaneously detected using a complementary dye but not specifically reported. Positional zygosity/haplotypes are inferred from the presence or absence of appropriate signal response for both the wild-type and variant alleles. A diplotype and metabolism classification is computed using Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines, using the laboratory-developed OncoSeek software system (OncoSeek 2.2.0.40).

1. Limit of detection: a minimum of 40% alternate signal is required to reliably classify a sample with at least one alternate allele. Samples containing less than 40% alternate allele may not be consistently identified as carrying the variant allele.
2. A minimum cluster/genotyping quality score 2: 0.95 is required at each assessed locus.
   

Five to 10 working days 

10 ml peripheral blood (PB) in Cell-Free DNA BCT® Streck Tube, sent at room temperature

81350 (UGT1A1), 81232 (DPYD)

The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer who is being billed.