Report Contents

  1. Coriell Personalized Medicine Collaborative Research Study Report. This report includes all data included in the clinical report as well as supplemental drug specific interpretations and educational material.
  2. Clinical Report. This report was generated and approved by Coriell’s CLIA certified genotyping laboratory.
Coriell Institute for Medical Research
Coriell Genotyping and Microarray Center
403 Haddon Avenue Camden, NJ 08103
Phone: 856-966-7377 Fax: 856-964-0254  www.coriell.org
CYP2D6 GENE TEST FOR PAROXETINE (PAXIL®) RESPONSE
Name: STEVE CPMC
Date of Birth:
Coriell ID: DEMOSTEVE
Lab Accessioning Number: DEMOSTEVE
Ordering Physician:
Sample Type: Saliva
Gender: Male
Date Collected:
Date Received:
Date of Report: 12/19/2017
NAME OF GENE: CYP2D6 LOCATION OF GENE: 22q13
Variants tested RESULT Reference Genotype
rs35742686 (CYP2D6*3) A/A A/A
rs3892097 (CYP2D6*4M, CYP2D6*4) G/G G/G
rs5030655 (CYP2D6*6) T/T T/T
rs5030867 (CYP2D6*7) A/A A/A
rs28371720 (CYP2D6*9) AGA/AGA AGA/AGA
rs1065852 (CYP2D6*10, CYP2D6*4, CYP2D6*14A, CYP2D6*36, CYP2D6*56B, CYP2D6*64, CYP2D6*69) C/C C/C
rs5030863 (CYP2D6*11) G/G G/G
rs5030862 (CYP2D6*12) G/G G/G
rs5030865 (CYP2D6*14B, CYP2D6*14A) G/G G/G
rs72549357 (CYP2D6*15) T/T T/T
rs28371706 (CYP2D6*17, CYP2D6*40, CYP2D6*64) C/C C/C
rs72549353 (CYP2D6*19) AACT/AACT AACT/AACT
rs72549354 (CYP2D6*20) -/- -/-
rs72549352 (CYP2D6*21) -/- -/-
rs72549351 (CYP2D6*38) GACT/GACT GACT/GACT
rs72549356 (CYP2D6*40) -/- -/-
rs28371725 (CYP2D6*41, CYP2D6*69) G/G G/G
rs72549346 (CYP2D6*42) -/- -/-
rs72549349 (CYP2D6*44) G/G G/G
rs72549347 (CYP2D6*56, CYP2D6*56B) C/C C/C
EXON 9 GENE CONVERSION COPIES (CYP2D6*36) 0 0
CYP2D6 GENE COPY NUMBER2 2 2
^ When the Result for all CYP2D6 variants tested are the same as the reference, the Combined Result is called CYP2D6 *1/*1. In some cases, due to technical limitations, your Combined Result may not be able to be determined. It may still be possible to provide an interpretation for such a result based on possible genetic outcomes (for example in rare combinations of non-reference results at more than one variant, or the presence of a “result not available” at one or more variants).
2When a CYP2D6 copy number of greater than two copies is detected, the CPMC test cannot determine which of the two CYP2D6*numbered genes has multiple copies and both possibilities are considered in the interpretation of metabolizer type.
Risk interpretation based on Coriell’s CYP2D6/Paroxetine (Paxil®) Response Genotype Translation Version 1 (January, 2015).

Interpretation

This individual is expected to be a Paroxetine Extensive Metabolizer based on the Combined Genetic Result: CYP2D6*1/*1

Individuals who are extensive metabolizers have normal CYP2D6 enzymatic function and are expected to respond to paroxetine (Paxil®).

Test Limitations

DNA-based testing is highly accurate, however there are many sources of potential error including: misidentification of samples, rare technical errors, trace contamination of PCR reactions, and rare genetic variants that interfere with analysis. There may be other variants in the CYP2D6 gene that are not included in this test that influence the response to paroxetine (Paxil®). This test or one or more of its components was developed and its performance characteristics determined by the Coriell Institute for Medical Research. It has not been approved by the Food and Drug Administration (FDA). The FDA has determined that such approval is not necessary. The Coriell Institute is regulated under the Clinical Laboratory Improvement Amendments (CLIA) of 1988 as qualified to perform high-complexity testing.

Test Methodology

Saliva samples were collected using Oragene DNA Collection Kits (DNA Genotek) and DNA was extracted manually according to the manufacturer’s instructions or automatically using a DNAdvance Kit (Agencourt). Purified DNA was quantified using UV absorbance at 260 nm. One microgram of the resulting DNA from each sample was used as template in the Affymetrix DMET Plus GeneChip assay. Data analysis was performed using Affymetrix DMET Console software. Ten nanogram of DNA from each sample was used in the CYP2D6 copy number assay (Taqman Copy Number Assay, Thermofisher, Hs00010001). Data analysis was performed using CopyCaller V2.1 software (ThermoFisher). Risk interpretation was based on Coriell’s CYP2D6/ Paroxetine (Paxil®) Response Genotype Translation Version 1.

Electronically signed by
Owatha L. Tatum, PhD, Laboratory Director


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