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5-Fluorouracil (5-FU) Toxicity and Chemotherapeutic Response, 5 Mutations
2007228
Ordering Recommendation

Predict risk of dose-related toxicity and responsiveness to 5-FU therapy.

Mnemonic
5-FU PANEL
Methodology
Polymerase Chain Reaction/Single Nucleotide Extensions/Fragment Analysis
Performed
Varies
Reported
10-14 days
New York DOH Approval Status
This test is New York DOH approved.
Submit With Order
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).  
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL)  
Storage/Transport Temperature
Refrigerated.  
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
Interpretive Data
Refer to report.


Table 1. DPYD mutations: nomenclature, allele frequency, and predicted consequences
DPYD mutations
Alternative name
Allele frequency in
indicated population
Predicted consequence
in patients receiving 5-FU
c.1679 T>GDPYD*13, rs558860620.001 - French CaucasiansDecreased DPD activity;
Increased toxicity risk
c.1905+1 G>ADPYD*2A, IVS14+1 G>A, rs39182900.0047 - 0.022-Dutch, German, French, Turkish, Finnish
Absent - Japanese, Korean, African American
Abolished DPD activity;
Greatly increased toxicity risk
c.2846 A>Trs673767980.01 - French CaucasiansDecreased DPD activity;
Increased toxicity risk

Table 2. TYMS mutations, allele frequency, and predicted consequences

TYMS mutations
Allele
Allele frequency in
indicated population
Predicted consequence in
patients receiving 5-FU
3'-UTR:
6 bp deletion (TTAAAG)
(rs16430)
DELETION0.295 - CaucasianDecreased TYMS expression;
Increased 5-FU responsiveness;
Increased risk of toxicity
3'-UTR:
6 bp deletion (TTAAAG)
(rs16430)
INSERTION0.705 - CaucasianIncreased TYMS expression;
Decreased 5-FU responsiveness;
Decreased risk of toxicity
5'-TSER
28bp VNTR (2R; 3R)
(rs45445694)
2R0.41-0.48 - Caucasian, Hispanic, African-American
0.19 - Singapore, Chinese
0.175 - Japanese
2R/3RG:
Increased TYMS expression;
Decreased 5-FU responsiveness;
Poor prognosis

2R/2R or 2R/3RC:
Decreased TYMS expression;
Increased 5-FU responsiveness;
Increased risk of toxicity
5'-TSER
28bp VNTR (2R; 3R)
(rs45445694)
3RG0.51 - Singapore, Chinese
0.427 - Japanese
0.26-0.37 - Caucasian, Hispanic, African-American
3RG/3RG, 3RG/3RC or 2R/3RG :
Increased TYMS expression;
Decreased 5-FU responsiveness;
Poor prognosis
5'-TSER
G>C SNP in 2nd repeat of 3R allele
(3RC)
(rs34743033)
3RC0.399 - Japanese
0.30 - Singapore, Chinese
0.15-0.33 - Caucasian, Hispanic, African-American
3RG/3RC:
Increased TYMS expression;
Decreased 5-FU responsiveness;
Poor prognosis

3RC/3RC or 2R/3RC:
Decreased TYMS expression;
Increased 5-FU responsiveness;
Increased risk of toxicity

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test; however, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Note
CPT Code(s)
81400; 81401;81479
Components
Component Test Code*Component Chart NameLOINC
20024245-FU Tox,Response - DPYD c.1679T>G45284-7
20024265-FU Tox,Response - DPYD c.2846A>T45284-7
20072005-FU Tox,Response - Specimen31208-2
20072295-FU Tox,Response - DPYD c.1905+1G>A
20072305-FU Tox,Response - DPYD Interpretation
20072315-FU Tox,Response - TYMS 3'UTR Genotype
20072325-FU Tox,Response - TYMS 5'TSER Genotype
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • 5-FU Toxicity and Chemotherapeutic Response, 5 Mutations
  • 5FU drug toxicity
  • Dihydropyrimidine
  • DPD
  • DPYD and TYMS Genotyping, 5 Mutations
  • DYPD
  • DYPD genotyping
  • TYMS and DPYD Genotyping, 5 Mutations
  • TYMS genotyping