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CYP2D6
3001513
Ordering Recommendation

Assess genetic risk of abnormal drug metabolism for CYP2D6 substrates. May aid in drug selection and dose planning for drugs metabolized by CYP2D6.

Mnemonic
2D6GENO
Methodology
Polymerase Chain Reaction/Fluorescence Monitoring
Performed
Varies
Reported
5-10 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
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 Transport the 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. 
Remarks
 
Stability
Whole Blood: Ambient: 72 hours; Refrigerated: 1 week; Frozen: 1 month
Saliva:
Ambient: 2 weeks; Refrigerated: Unacceptable; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data
Background Information for CYP2D6:
Characteristics:
The cytochrome P450 (CYP) isozyme 2D6 is involved in the metabolism of many drugs. Variants in the gene that code for CYP2D6 may influence pharmacokinetics of CYP2D6 substrates, and may predict or explain non-standard dose requirement, therapeutic failure or adverse reactions.
Inheritance:
Autosomal codominant.
Cause:
CYP2D6 gene variants and copy number affect enzyme expression or activity.
Variants Tested:
See the "Additional Technical Information" document.
Clinical Sensitivity:
Drug-dependent.
Methodology:
Polymerase chain reaction (PCR) and fluorescence monitoring.
Analytical Sensitivity and Specificity:
Greater than 99 percent.
Limitations:
Only the targeted CYP2D6 variants will be detected by this panel, and assumptions about phase and content are made to assign alleles. Publically available sources such as the www.pharmvar.org or www.pharmgkb.org provide guidance on phenotype predictions and allele frequencies. A combination of the *5 (gene deletion) and a gene duplication cannot be specifically identified. This combination is not expected to adversely affect the phenotype prediction. 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.

Please note the information contained in this report does not contain medication recommendations, and should not be interpreted as recommending any specific medications. Any dosage adjustments or other changes to medications should be evaluated in consultation with a medical provider.

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.

Note
Whole blood is the preferred specimen. Saliva samples that yield inadequate DNA quality and/or quantity will be reported as inconclusive if test performance does not meet laboratory-determined criteria for reporting.
Hotline History
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Components
Component Test Code*Component Chart NameLOINC
30015142D6GENO Specimen31208-2
3001515CYP2D6 Genotype40425-1
30015162D6GENO Interpretation50398-7
* 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
  • 2D6
  • antidepressants
  • antipsychotics
  • atomoxetine
  • codeine
  • CYP2D6
  • Cytochrome P450 2D6
  • flecainide
  • metoprolol
  • oxycodone
  • propafenone
  • tamoxifen
  • tramadol
  • tropisetron
  • zuclopenthixol