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CYP2D6 Gene Sequencing Panel (2 Day STAT TAT)
Clinical Genetic Test
Help
offered by
Machaon Diagnostics
GTR Test Accession: Help GTR000592973.3
CAP
INHERITED DISEASEPHARMACOGENOMIC
Last updated in GTR: 2024-04-04
View version history
Last annual review date for the lab: 2024-04-04 LinkOut
At a Glance
Test purpose: Help
Drug Response
Conditions (1): Help
Disorder due cytochrome p450 CYP2D6 variant
Genes (1): Help
CYP2D6 (22q13.2)
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: RT-qPCR; ...
Target population: Help
Not provided
Clinical validity: Help
Metabolism phenotype predictions based on genotyping known CYP2D6 variants can …
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Machaon Diagnostics
View lab's website
Specimen Source: Help
  • Buccal swab
  • Peripheral (whole) blood
Who can order: Help
  • Health Care Provider
  • Licensed Physician
Test service: Help
Custom Deletion/Duplication Testing
Custom Sequence Analysis
Result interpretation
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, How to Order, Lab contact for this test, Contact policy, Test strategy
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
RT-qPCR
Sequence analysis of select exons
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Drug Response
Clinical validity: Help
Metabolism phenotype predictions based on genotyping known CYP2D6 variants can predict as much as 50-60% of variation in urinary metabolic ratios using the drug Dextromethorphan (Gaedigk et al. 2008).
View citations (1)
  • Del Tredici AL, Malhotra A, Dedek M, Espin F, Roach D, Zhu GD, Voland J, Moreno TA. Frequency of . Front Pharmacol. 2018;9:305. doi:10.3389/fphar.2018.00305. Epub 2018 Apr 05. PMID: 29674966.
Recommended fields not provided:
Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity and specificity are >99%.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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