Dihydropyrimidine Dehydrogenase (DPD) Gene Mutation Analysis
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Polymerase Chain Reaction, Single Nucleotide Primer
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
DPD Gene Mutation
Specimen Type Describes the specimen type needed for testing
Whole Blood EDTA
Specimen Required Defines the optimal specimen. This field describes the type of specimen required to perform the test and the preferred volume to complete testing. The volume allows automated processing, fastest throughput and, when indicated, repeat or reflex testing.
Collect 5 mL lavender-top (EDTA) whole blood. Ship ambient
Specimen Minimum Volume Defines the amount of specimen required to perform an assay once, including instrument and container dead space. Submitting the minimum specimen volume makes it impossible to repeat the test or perform confirmatory or perform reflex testing. In some situations, a minimum specimen volume may result in a QNS (quantity not sufficient) result, requiring a second specimen to be collected.
Specimens Other Than:
Anticoagulants Other Than:
EDTA, ACD A, ACD B, heparin
Warm OK; Cold OK
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.
|Whole Blood EDTA||Ambient (preferred)||8 days|
Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
Dihydropyrimidine dehydrogenase (DPD) is the rate-limiting
enzyme in the pathway for the degradation of the pyrimidine
bases, uracil and thymine. DPD also catalyzes the
detoxification of pyrimidine-based chemotherapeutic agents
(e.g. 5-fluorouracil (5-FU) and capecitabine). Decreased
DPD activity is associated with severe myelosuppression or
even lethal toxicity, in patients treated with standard
doses of 5-FU. DPD deficiency is associated with congenital
thymine-uraciluria, an autosomal recessive condition
characterized by convulsive disorders, microcephaly, and
mental retardation. The IVS14+1G>A mutation in the
splice-donor site of intron 14 of the DPD gene (located on
chromosome 1) accounts for approximately 50% of DPD
The IVS14+1G>A mutation is detected by polymerase chain
reaction (PCR) amplification of a portion of the DPD gene,
followed by a single nucleotide primer extension reaction
using fluorescent dideoxynucleotides, and detection of the
fluorescent reaction products using an automated, capillary
DNA sequencer. Since genetic variation and other problems
can affect the accuracy of the direct mutation testing,
these results should always be interpreted in light of
clinical and familial data.
This test is performed pursuant to a license agreement with
Orchid Biosciences Inc
Test Performed By: Quest Diagnostics Nichols Institute
36608 Ortega Highway
San Juan Capistrano, CA 92690
Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.
2 days per week
Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.
Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result
Performing Laboratory Location The location of the laboratory that performs the test
Quest Diagnostics/Nichols Institute
Test Classification Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer's instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR), Investigation Use Only (IUO) product, or a Research Use Only (RUO) product.
This test was developed and its performance characteristics have been determined by Quest Diagnostics Nichols Institute, San Juan Capistrano. Performance characteristics refer to the analytical performance of the test.
CPT Code Information Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Medical Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
LOINC® Code Information Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the result codes returned for this test or profile.
|Result ID||Reporting Name||LOINC Code|
|Z2295||Reviewed By:||In Process|