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ARUP Lab Information Sheet
ARUP Lab Information Sheet
NOVEMBER 2016 | © 2013 ARUP LABORATORIES | ARUP is a nonprofit enterprise of the University of Utah and its Department of Pathology.
500 Chipeta Way, Salt Lake City, UT 84108 | (800) 522-2787 | (801) 583-2787 | www.aruplab.com | www.arupconsult.com
Variants detected – see table Limitations
• Only the targeted CYP2D6 variants will be detected
Structure/function – located on chromosome 22
• Diagnostic errors can occur due to rare sequence
Test Interpretation variations
• Risk of therapeutic failure or adverse reactions with
Sensitivity/specificity CYP2D6 substrates may be affected by genetic and
• Clinical sensitivity – drug dependent nongenetic factors that are not detected by this test
• Analytical sensitivity/specificity – >99% • This result does not replace the need for therapeutic drug
Results or clinical monitoring
• By report • It is not always possible to identify which allele is
• No mutations detected – predictive of *1 functional duplicated when a CYP2D6 duplication is detected
alleles
Allele Designation Nucleotide Change Reference Sequence Identifier Predicted Enzyme Activity
(Numbered according to M33388 sequence)
*2 2850C>T rs16947 Functional (normal)
*2A -1584C>G; 2850C>T rs1080985, rs16947 Functional (normal)
*3 2549delA rs35742686 No function
*4 1846G>A rs3892097 No function
*5 Gene deletion No function
*6 1707delT rs5030655 No function
*7 2935A>C rs5030867 No function
*8 1758G>T rs5030865 No function
*9 2613-5delAGA rs5030656 Decreased function
*10 100C>T rs1065852 Decreased function
*12 124G>A rs5030862 No function
*14 1758G>A rs5030865 No function
*17 1023C>T rs28371706 Decreased function
*29 1659G>A rs59421388 Decreased function
*41 2988G>A rs28371725 Decreased function
Duplication of Increased function
functional alleles
References
• Bernard S, Neville KA, et al. Interethnic differences in • Clinical Pharmacogenetics Implementation Consortium
genetic polymorphisms in the U.S. Population: clinical (CPIC) guideline for CYP2D6 and codeine therapy,
implications. The Oncologist. 2006;11(2):126-135 available along with the 2014 supplement and other
• Clinical Pharmacogenetics Implementation Consortium relevant resources at www.pharmgkb.org
(CPIC) guideline for CYP2D6 and CYP2C19 genotypes and • Clinical Pharmacogenetics Implementation Consortium
dosing of selective serotonin reuptake inhibitors, available (CPIC) guideline for CYP2D6 and CYP2C19 genotypes and
along with the 2015 supplement and other relevant dosing of tricyclic antidepressants, available along with
resources at www.pharmgkb.org the 2013 supplement and other relevant resources at
www.pharmgkb.org
• The human cytochrome P450 (CYP) allele nomenclature
database, available at www.cypalleles.ki.se/