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Test ID: 2D6CB    
Cytochrome P450 2D6 (CYP2D6) Comprehensive Cascade, Blood

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.

Conditional

Useful For Suggests clinical disorders or settings where the test may be helpful

Providing information relevant to tamoxifen, psychotropic medications (such as fluoxetine, nortriptyline, paroxetine, and pimozide), 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 mutations that may interfere with drug metabolism

Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request

Approximately 94% to 96% of individuals will have results after tier 1 testing has been performed, and will not need additional testing through tier 2 or 3. Based on tier 1 test sensitivity and CYP2D6 polymorphism carrier frequencies, persons of Caucasian descent have a 4% to 6% risk of having an undetected variation that would impact the predicted phenotype (this risk maybe higher or lower in other ethnic groups). In these cases, testing will be continued through the tiers until the comprehensive genotype is determined. Testing through tier 3 will allow for the detection of all common variants (eg, *2, *3, *4, *5, *6, *9, *10, *17, *19, *29, *35, *41, *1XN, *2XN, *4XN) but also rarer alleles such as *11, *14, *12, and *15. Unitary and tandem CYP2D7-2D6 (*13) alleles and CYP2D6-2D7 (eg, *4N and *36) alleles can also be detected. Furthermore, the actual alleles that are duplicated or multiplied can be determined in most cases.

Reflex Tests Lists test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)

Test IDReporting NameAvailable SeparatelyAlways Performed
2D6CNCYP2D6 Copy Number Variation, BNo, (Bill Only)No
2D6DACYP2D6 Duplication Sequence A, BNo, (Bill Only)No
2D6DBCYP2D6 Duplication Sequence B, BNo, (Bill Only)No
2D6DCCYP2D6 Duplication Sequence C, BNo, (Bill Only)No
2D6FGCYP2D6 Full Gene Sequencing, BNo, (Bill Only)No
2D6NCYP2D6-2D7 Gene Sequencing, BNo, (Bill Only)No
2D6RCYP2D7-2D6 Gene Sequencing, BNo, (Bill Only)No

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

This test will always include CYP2D6 genotype testing via Luminex (tier 1). Tier 2 reflex testing will be performed as appropriate and at an additional charge and will include CYP2D6 copy number variation. If additional testing is needed, any or all of the following tier 3 testing will be performed at an additional charge: CYP2D6 full gene sequencing, CYP2D6-2D7 gene sequencing, CYP2D7-2D6 gene sequencing, CYP2D6 duplication sequence A, CYP2D6 duplication sequence B, and CYP2D6 duplication sequence C. The results of the reflex tests will be incorporated into the interpretation of this test.

 

See CYP2D6 Comprehensive Cascade Testing Algorithm in Special Instructions.

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

Method Name A short description of the method used to perform the test

Tier 1: Polymerase Chain Reaction (PCR) with Allele-Specific Primer Extension (ASPE)

Tier 2: Real-Time Quantitative Polymerase Chain Reaction (PCR)
Tier 3: Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

CYP2D6 Genotype Cascade, B

Aliases Lists additional common names for a test, as an aid in searching

2D6
CYP
CYP2D6
Cytochrome
P450
P450 Genotyping
Treatment Resistant Depression Panel
Breast Cancer Therapy
CYP2D6 for Breast Cancer