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
CYP2C19 Clinical Report
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: 04/29/2011
NAME OF GENE: CYP2C19 LOCATION OF GENE: 10q24
Variants tested RESULT Reference Genotype
rs12248560 CT C C
rs28399504 AA A A
rs41291556 TT T T
rs72558184 GG G G
rs4986893 GG G G
rs4244285 GG G G
rs72558186 TT T T
rs56337013 CC C C
Risk interpretation based on Coriell's CYP2C19 Clopidogrel Metabolizer Type Genotype Translation Version 1 (March 2011)

Test Limitations

DNA-based testing is highly accurate, however there are many sources of potential error including: mis-identification 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 CYP2C19 gene, not included in this test, that influence metabolizer status. 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.

electronically signed by
Marie Hoover, PhD, Laboratory Director

Genetic Variant Definitions

  • Extensive metabolizers (EM) include those with two normally functioning copies such as CYP2C19*1.
  • Intermediate metabolizers (IM) include those with one normally functioning copy of CYP2C19 (CYP2C19*1) and one non-functional variant such as CYP2C19*2, CYP2C19*3, CYP2C19*4, CYP2C19*5, CYP2C19*6, CYP2C19*7 or CYP2C19*8.
  • Reduced Response - Metabolizer Status Uncertain includes those who have at least two non-functional variants in the CYP2C19 gene conferring a reduced response but for whom metabolizer status cannot be definitively determined to be poor or intermediate.
  • Poor metabolizers (PM) include those with two non-functional variants such as CYP2C19*2, CYP2C19*3, CYP2C19*4, CYP2C19*5, CYP2C19*6, CYP2C19*7 or CYP2C19*8.
  • Ultra rapid metabolizers (UM) include those with 2 enhanced activity variants such as CYP2C19*17 or one normally functioning copy (CYP2C19*1) and one enhanced activity variant (CYP2C19*17).
  • Typical or Increased Response – Metabolizer Status Uncertain includes those with zero non-functional variants, but for whom the presence of one or more enhanced activity variants cannot be determined due to technical limitations.
  • Metabolizer Status Uncertain includes those individuals for whom a metabolizer status cannot be assigned either due to technical limitations or due to the lack of clinical data on the effect of the variant combination.

References

  1. Mega JL, et al. N Engl J Med 2009; 360:354-62 PMID: 19106084
  2. Mega JL, et al. JAMA. 2010; 304; 1821-1830. PMID: 20978260
  3. Sibbing D, et al. J. Thromb. Haemost. 2010; 8:1685-1693. PMID:20492469
  4. Sibbing D, et al. Circulation. 2010; 121:512-518. PMID:20083681
  5. Simon T, et al. N Engl J Med 2009; 360(4):363-75. PMID: 19106083
  6. OMIM 124020 (http://www.ncbi.nlm.nih.gov/omim)
  7. http://www.fda.gov/Drugs/DrugSafety/PostmarketDrugSafetyInformationforPatientsandProviders/
  8. http://www.cypalleles.ki.se/cyp2c19.htm