Dihydropyrimidine Dehydrogenase, DPYD Full Gene Sequencing, Varies

Casandra

Casandra Test Code MC17892Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID DPYDZCPT Code 81232

Dihydropyrimidine Dehydrogenase, DPYD Full Gene Sequencing, Varies

Clinical Use

Use

This pharmacogenomic test identifies individuals at increased risk of toxicity from fluoropyrimidine chemotherapy (5-fluorouracil and capecitabine) by detecting common and rare variants associated with decreased or absent DPD enzyme activity, aiding in diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for dihydropyrimidine dehydrogenase deficiency ([mayocliniclabs.com](https://www.mayocliniclabs.com/test-catalog/overview/610051?utm_source=openai)).

Special Instructions

If skin biopsy or cultured fibroblast specimens are submitted, fibroblast culture will be performed at additional charge. A previous hematopoietic stem cell or liver transplant can interfere with testing—call Mayo Clinic Laboratories for guidance. Informed consent is required for New York clients, to be documented on the request form or electronic order ([mayocliniclabs.com](https://www.mayocliniclabs.com/test-catalog/overview/610051?utm_source=openai)).

Limitations

Some gene regions may not be effectively evaluated due to technical limitations such as regions of homology, high GC content, and repetitive sequences. If full gene sequencing was previously performed, this test may focus on identifying copy number variants. Results from specimens contaminated by donor DNA (e.g., post–stem cell transplant, recent transfusion) may not reflect recipient's genotype. This test is not designed to provide specific dosing recommendations and should be used only as a clinical decision aid ([mayocliniclabs.com](https://www.mayocliniclabs.com/test-catalog/overview/610051?utm_source=openai)).

Test Details

New York Approved