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Test Code LAB0255521 Cytochrome P450 2D6 Comprehensive Cascade, Varies

Additional Codes

Mayo Test ID
2D6Q


Ordering Guidance


This test is not for use in assessing for autoimmune hepatitis. Autoantibodies for the CYP2D6 enzyme are found in many cases of autoimmune hepatitis; order LKM / Liver/Kidney Microsome Type 1 Antibodies, Serum for autoimmune hepatitis assessment.

 

Testing is available as the single gene assay (this test) and as a part of a psychotropic or focused pharmacogenomics panel.

 

If multiple pharmacogenomic genotype testing is desired, order PGXQP / Focused Pharmacogenomics Panel, Varies.

 

If genotype testing for psychotropic medications is desired, order PSYQP / Psychotropic Pharmacogenomics Gene Panel, Varies.



Specimen Required


Multiple genotype tests can be performed on a single specimen after a single extraction. See Multiple Genotype Test List for a list of tests that can be ordered together.

 

Submit only 1 of the following specimens:

 

Specimen Type: Whole blood

Container/Tube: Lavender top (EDTA)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred) 9 days/Refrigerated 30 days

 

Specimen Type: Saliva

Patient Preparation: Patient should not eat, drink, smoke, or chew gum 30 minutes prior to collection.

Supplies: Saliva Swab Collection Kit (T786)

Specimen Volume: 1 swab

Collection Instructions: Collect and send specimen per kit instructions.

Additional Information: Due to lower concentration of DNA yielded from saliva, testing cannot proceed to tier 2 sequencing and will stop after tier 1 testing is complete.

Specimen Stability Information: Ambient 30 days

 

Specimen Type: Extracted DNA

Container/Tube: 2 mL screw top tube

Specimen Volume: 100 mcL (microliters)

Collection Instructions:

1. The preferred volume is 100 mcL at a concentration of 75 ng/mcL.

2. Include concentration and volume on tube.

Specimen Stability Information: Frozen (preferred) 1 year/Ambient/Refrigerated


Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. If not ordering electronically, complete, print, and send 1 of the following forms with the specimen:

-Cardiovascular Test Request (T724)

-Neurology Specialty Testing Client Test Request (T732)

-Therapeutics Test Request (T831)

Useful For

Providing information relevant to tamoxifen, codeine, and tramadol, as well as other medications metabolized by cytochrome P450 2D6

 

Determining the exact genotype when other methods fail to generate this information or if genotype-phenotype discord is encountered clinically

 

Identifying precise genotype when required (eg, drug trials, research protocols)

 

Identifying novel variants that may interfere with drug metabolism (when reflex to sequencing is performed)

Testing Algorithm

Tier 2 testing will be performed only if an ambiguous phenotype is identified by tier 1 testing. The number of sequencing tests needed to determine the phenotype will vary depending on the tier 1 result.

 

For more information see CYP2D6 Comprehensive Cascade Testing Algorithm.

Method Name

Tier 1: Real Time Polymerase Chain Reaction (PCR)

Tier 2: Polymerase Chain Reaction (PCR) followed by DNA Sequence Analysis

Reporting Name

CYP2D6 Genotype Cascade, V

Specimen Type

Varies

Specimen Minimum Volume

Blood: 1 mL
Saliva: 1 swab

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability

Reference Values

A comprehensive interpretive report will be provided.

Interpretation

A comprehensive interpretive report will be provided, which combines the results of all tier testing utilized to obtain the final genotype.

 

The genotype, with associated star alleles, is assigned using standard allelic nomenclature as published by the Pharmacogene Variation (PharmVar) Consortium.(1)

 

For the CYP2D6 copy number variation assay, the reportable copy number range is 0 to 4 copies for each of the CYP2D6 region assessed.

 

Novel variants will be classified based on known, predicted, or possible effect on gene function and reported with interpretive comments detailing their potential or known significance.

 

For additional information regarding pharmacogenomic genes and their associated drugs, see Pharmacogenomic Associations Tables. This resource also includes information regarding enzyme inhibitors and inducers, as well as potential alternate drug choices.

Day(s) Performed

Monday through Thursday

Report Available

3 to 16 days

Specimen Retention Time

Whole Blood/Saliva swab: 2 weeks Extracted DNA: 2 months

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

0070U

0071U (if appropriate)

0076U (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
2D6Q CYP2D6 Genotype Cascade, V 47403-1

 

Result ID Test Result Name Result LOINC Value
610103 CYP2D6 Genotype 40425-1
610104 CYP2D6 Phenotype 79715-9
610569 CYP2D6 Activity Score 104669-7
610105 Interpretation 69047-9
610106 Additional Information 48767-8
610107 Method 85069-3
610108 Disclaimer 62364-5
610109 Reviewed by 18771-6

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
2D61Z CYP2D6 Full Gene Sequence No, (Bill Only) No
2D62Z CYP2D6 GEN CYP2D6-2D7 Hybrid No, (Bill Only) No
2D63Z CYP2D6 GEN CYP2D7-2D6 Hybrid No, (Bill Only) No
2D64Z CYP2D6 Nonduplicated Gene No, (Bill Only) No
2D65Z CYP2D6 5' Gene DUP/MLT No, (Bill Only) No
2D66Z CYP2D6 3' Gene DUP/MLT No, (Bill Only) No