Cytochrome P450 2D6 (CYP2D6) 15 Variants and Gene Duplication (INACTIVE as of 05/20/19: Refer to 3001513 in the May Hotline)
Ordering Recommendation
Polymerase Chain Reaction/Fluorescence Monitoring
5-10 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Submit With Order
Specimen Required
Patient Preparation
Whole Blood: Lavender (EDTA), Pink (K2EDTA), or Yellow (ACD Solution A or B)
Saliva: Collection Device by DNA Genotek (OCD-100, ARUP Supply #49295) available online through eSupply using ARUP Connect™ or by contacting ARUP Client Services at (800) 522-2787. 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) OR Saliva Collection Device. 
Storage/Transport Temperature
Whole Blood: Refrigerated.
Saliva: Room temperature. 
Unacceptable Conditions
Plasma or serum. Specimens collected in sodium heparin or lithium heparin. 
Whole Blood: Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: 1 month
Saliva: Ambient: 2 weeks; Refrigerated: Unacceptable; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data
Background Information for Cytochrome P450 2D6 (CYP2D6) 15 Variants and Gene Duplication:
The cytochrome P450 (CYP) isozyme 2D6 is involved in the metabolism of many drugs, such as antiestrogens (tamoxifen), alpha-blockers, analgesics, anticonvulsives, antidepressants, antidiabetics, antihypertensives, antipsychotics, antitussives, beta blockers, cardioactives, norepinephrine reuptake inhibitors, and stimulants. Variants of CYP2D6 will influence pharmacokinetics of CYP2D6 substrates, and may predict non-standard dose requirements.
Autosomal co-dominant.
CYP2D6 gene variants and copy number result in increased, decreased or complete deficiency in enzyme activity.
Variants Tested:
(Variants are numbered according to M33388 sequence.)
*2 (2850C>T), *2A (-1584C>G; 2850C>T).
Decreased function:
*9 (2613-5delAGA), *10 (100C>T), *17 (1023C>T; 2850C>T), *29 (1659G>A; 2850C>T), *41 (2988G>A; 2850C>T).
*3 (2549delA), *4 (100C>T; 1846G>A), *5 (gene deletion), *6 (1707delT), *7 (2935A>C), *8 (1758G>T; 2850C>T), *12 (124G>A; 2850C>T), *14 (1758G>A; 2850C>T), *36 (a *10 carrying a CYP2D7-derived exon 9 conversion).
Increased function:
Duplicated functional alleles.
No variants detected is predictive of *1 functional alleles and normal enzymatic activity.
Allele frequencies:
CYP2D6*2 or CYP2D6*2A: African-17.6 percent, Asian-21.2 percent, Caucasian-27.6 percent, Middle Eastern-21.7 percent, Oceanian-1.2 percent
CYP2D6*3: African-0.2 percent, Asian-0 percent, Caucasian-1.3 percent, Middle Eastern-0.1 percent, Oceanian-0.2 percent
CYP2D6*4: African-4.9 percent, Asian-4.6 percent, Caucasian-18.2 percent, Middle Eastern-7.8 percent, Oceanian-2.5 percent
CYP2D6*5: African-6.3 percent, Asian-4.3 percent, Caucasian-2.8 percent, Middle Eastern-2.3 percent, Oceanian-4.3 percent
CYP2D6*6: African-0.1 percent, Asian-0 percent, Caucasian-1.0 percent, Middle Eastern-0.6 percent, Oceanian-0 percent
CYP2D6*7: African-0 percent, Asian-0 percent, Caucasian-0.1 percent, Middle Eastern-0 percent, Oceanian-0 percent
CYP2D6*8: African-0 percent, Asian-0 percent, Caucasian-0 percent, Middle Eastern-0 percent, Oceanian-0 percent
CYP2D6*9: African-0.3 percent, Asian-0.5 percent, Caucasian-2.1 percent, Middle Eastern-0 percent, Oceanian-0 percent
CYP2D6*10: African-5.3 percent, Asian-30.2 percent, Caucasian-3.0 percent, Middle Eastern-3.5 percent, Oceanian- 2.5 percent
CYP2D6*12: African-0 percent, Asian-0 percent, Caucasian-0 percent, Middle Eastern-0 percent, Oceanian-0 percent
CYP2D6*14: African-0.1 percent, Asian-0.4 percent, Caucasian-0 percent, Middle Eastern-0.2 percent, Oceanian-0 percent
CYP2D6*17: African-19.0 percent, Asian-0.1 percent, Caucasian-0.4 percent, Middle Eastern-1.6 percent, Oceanian-0.1 percent
CYP2D6*29: African-7.7 percent, Asian-0 percent, Caucasian-0.1 percent, Middle Eastern-0.8 percent, Oceanian-0 percent
CYP2D6*36: African-0.3 percent, Asian-0.7 percent, Caucasian-0 percent, Middle Eastern-0 percent, Oceanian-0 percent
CYP2D6*41: African-9.2 percent, Asian-4.9 percent, Caucasian-7.9 percent, Middle Eastern-19.9 percent, Oceanian-0.9 percent
CYP2D6xN (gene duplication): African-4.7 percent, Asian-1.6 percent, Caucasian-2.6 percent, Middle Eastern-7.1 percent, Oceanian-11.8
Clinical Sensitivity: Drug-dependent.
Polymerase chain reaction (PCR) and fluorescence monitoring.
Analytical Sensitivity and Specificity:
Greater than 99 percent.
Only the targeted CYP2D6 variants will be detected by this panel. Also, a combination of the *5 (gene deletion) and a gene duplication cannot be specifically identified. This combination is not expected to adversely affect the prediction of activity score or phenotype. Diagnostic errors can occur due to rare sequence variations. Risk of therapeutic failure or adverse reactions with CYP2D6 substrates may be affected by genetic and non-genetic factors that are not detected by this test. This result does not replace the need for therapeutic drug or clinical monitoring.

Statement C: Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Hotline History
View Hotline History
Component Test Code*Component Chart NameLOINC
2001304CYP2D6 Specimen31208-2
2008925CYP2D6 Genotype40425-1
2008926CYP2D6 Phenotype79715-9
* 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 view this test within the Laboratory Test Directory found at
  • 2D6
  • Antiestrogen metabolism
  • CYP
  • CYP2D6
  • CYP2D6 drug metabolism
  • Cytochrome
  • P450
  • P450 Genotyping
  • Tamoxifin Drug Metabolism