The RPRD Diagnostics flagship service, PharmacoScan™, is the most comprehensive pharmacogenetics test on the market. Our service includes the genomic testing and clinical analysis spanning >5000 genes and >18000 gene variants, with pricing that is competitive with single-gene tests and small gene panels.
The RPRD Diagnostics CNT™ and NT™ panels were developed with a leading healthcare provider as an improvement to the widely used TPMT test for identification of patients at risk for toxicity from thiopurine drugs, which are used to treat various disease conditions including leukemia.
The Thiopurine Methyltransferase (TPMT) and Nudix Hydrolase 15 (NUDT15) genes encode for enzymes that are negative regulators of thiopurine medications (i.e. 6-mercaptopurine, azathioprine, and thioguanine). Mutations in these genes result in poor metabolism of thiopurines, and are associated with thiopurine-induced early leukopenia or myelosuppression. Genetic variants in these genes can lead to altered NUDT15 and TPMT function, which can lead to life-threatening toxicity. Individuals with decreased TPMT and/or NUDT15 activity may require thiopurine dosage reductions and increased monitoring.
The Centrosomal protein 72 (CEP72) gene encodes a protein that is essential for microtubule formation. The chemotherapeutic drug vincristine, exerts its cytotoxic effects by interfering with microtubule formation and mitotic spindle dynamics, leading to mitotic arrest and cell death. One specific sequence variant in CEP72 (T/T genotype) is associated with an increased risk and severity of vincristine-related peripheral neuropathy in individuals with acute lymphoblastic leukemia (ALL).
CPT Code: 81401
The HLA-B gene (human leukocyte antigen B) is a member of the major histocompatibility complex (MHC). Several variations within this gene have been associated with severe drug reactions, as well as changes in how well a patient responds to a drug. Alleles such as HLA-B*15:02, HLA-B*57:01 and HLA-B*58:01 have been studied extensively for association to hypersensitivity for drugs including carbamazepine, abacavir and allopurinol.
Different ethnicities carry different HLA-B genotypes, with HLA-B*15:02 being found predominantly in patients from Asian backgrounds. In addition to HLA-B, studies have shown an association between the HLA-A*3101 genotype and developing a hypersensitive reaction to carbamazepine.
CPT Code: 81380
The Cytochrome P450 2C19 (CYP2C19) gene encodes for an enzyme involved in the metabolism of approximately 10% of clinically important drugs. This includes a number of widely used medications such as clopidogrel (Plavix®) and voriconazole, a first-line anti-fungal agent commonly used in cancer patients. Genetic variants in CYP2C19 can lead to patients with a range of enzyme activity, from ultrarapid metabolizers (increased enzyme activity) who are at increased risk of therapeutic failure to poor metabolizers, who are at increased risk for adverse events with standard label recommended doses. Knowing a patient’s CYP2C19 genotype can help the physician and pharmacist to make the most informed, effective and safe dosing decisions prior to drug selection and administration.
CPT Code: 81225
In addition to comprehensive pharmacogenetics testing services, RPRD Diagnostics offers custom genotyping panels tailored to your needs, whether for a specific test at your clinic, or a custom panel for a clinical trial. Our team has extensive experience in developing tailored solutions based on clinical need. For each client we begin with a review of the relevant literature, published guidelines, and regulatory guidance pertaining to drugs and selected genes. Based on this review and your sample volume, we select the appropriate technology platform for the analysis.
With more than a decade of experience in cutting-edge pharmacogenetics research, the RPRD Diagnostics team is uniquely suited to develop new tests for novel gene variants. These efforts begin as research projects, and can later be transitioned to routine tests or panels.