WPS™ (Whole Pharmacogenomics scan)

The RPRD Diagnostics flagship service, WPS™, is the most comprehensive pharmacogenetics test on the market. Our service includes the genomic testing and clinical analysis spanning >4600 makers on 1191 pharmacogenetic relevant genes, with pricing that is competitive with small gene panels.


CNT Panel

(CEP72/NUDT15/TPMT)

The RPRD Diagnostics CNT™  panel was 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.

Clinical Pharmacogenetics Implementation Consortium (CPIC) recommends testing both TPMT and NUDT15 for thiopurine dosing.

CPIC® Guideline for Thiopurines and TPMT and NUDT15

Pharmacogene Variation Consortium Gene Introduction: NUDT15

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: 81335 (EFFECTIVE 1/1/18)

TPMT Test Specifications

NUDT15 Test Specifications

CEP72 Test Specifications

 

CUSTOM PANELS

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.


Novel Variants

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.