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Test Code 2D6CV Cytochrome P450 2D6 (CYP2D6) Comprehensive Cascade


Advisory Information


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



Specimen Required


Multiple genotype tests can be performed on a single specimen after a single extraction. See Multiple Genotype Test List in Special Instructions 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 specimen in original tube.

Specimen Stability Information: Ambient (preferred)/Refrigerated

 

Specimen Type: Saliva

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

Supplies: DNA Saliva Collection Kit (T786)

Container/Tube: Saliva Swab Collection Kit (T786: fees apply)

Specimen Volume: 1 swab

Collection Instructions: Collect and send specimen per kit instructions.

Specimen Stability Information: Ambient

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 Type: 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 50 ng/mcL.

2. Include concentration and volume on tube.

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


Forms

New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.

Useful For

Providing information relevant to tamoxifen, codeine, and tramadol, as well as other medications metabolized by CYP2D6

 

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

 

Identifying exact genotyping when required (eg, drug trials, research protocols)

 

Identifying novel variants that may interfere with drug metabolism

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.

 

See CYP2D6 Comprehensive Cascade Testing Algorithm in Special Instructions.

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

Specimen Type

Varies

Specimen Minimum Volume

Blood: 1 mL
Saliva: 1 swab

Specimen Stability Information

Specimen Type Temperature Time
Varies Varies

Reject Due To

Hemolysis

NA

Lipemia

NA

Icterus

NA

Other

NA

Reference Values

A comprehensive interpretive report will be provided.

Day(s) and Time(s) Performed

Monday through Friday; 8 a.m.

Analytic Time

3 days (not reported Saturday or Sunday)

Performing Laboratory

Mayo Medical Laboratories in Rochester

Test Classification

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

CPT Code Information

81226-CYP2D6 (cytochrome P450, family 2, subfamily D, polypeptide 6) (eg, drug metabolism), gene analysis, common variants (eg, *2, *3, *4, *5, *6, *9, *10, *17, *19, *29, *35, *41, *1XN, *2XN, *4XN)

2D6S1

81479-Unlisted molecular pathology procedure (if appropriate)

 

2D6S2

81479-Unlisted molecular pathology procedure (if appropriate)

 

2D6S3

81479-Unlisted molecular pathology procedure (if appropriate)

 

2D6S4

81479-Unlisted molecular pathology procedure (if appropriate)

 

2D6S5

81479-Unlisted molecular pathology procedure (if appropriate)

 

2D6S6

81479-Unlisted molecular pathology procedure (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
2D6CV CYP2D6 Genotype Cascade In Process

 

Result ID Test Result Name Result LOINC Value
BA0113 CYP2D6 Genotype In Process
BA0114 CYP2D6 Phenotype 79715-9
BA0115 Interpretation 69047-9
BA0116 Additional Information In Process
BA0195 Method 49549-9
BA0196 Disclaimer 62364-5
BA0117 Reviewed by In Process