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
CYP2C9 GENE TEST FOR CELECOXIB 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: 06/13/2014
NAME OF GENE: CYP2C9 LOCATION OF GENE: 10q24
Variants tested RESULT Reference Genotype
rs1799853 (CYP2C9*2) CC C C
rs1057910 (CYP2C9*3) CC A A
rs28371686 (CYP2C9*5) CC C C
rs9332131 (CYP2C9*6) AA A A
rs28371685 (CYP2C9*11) CC C C
rs72558189 (CYP2C9*14) GG G G
^ When the Result for all tested CYP2C9 variants are the same as the reference, the Combined Result is called CYP2C9 *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).
Risk interpretation based on Coriell’s CYP2C9/Celecoxib Activity Genotype Translation Version 1 (June 2014).

Interpretation

This individual is expected to be a Celecoxib Poor Metabolizer based on the Combined Genetic Result: CYP2C9 *3/*3

Individuals who are poor metabolizers eliminate celecoxib at a very slow rate and are at an increased risk for blood clots, heart attack, or stroke when taking a standard dose. Celecoxib should be administered with caution in CYP2C9 poor metabolizers. A reduction in dose or an alternative medication is recommended for poor metabolizers of celecoxib.

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 CYP2C9 gene that are not included in this test, that influence the response to celecoxib. This test, or one or more of its components, was developed and its performance characteristics were 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


References

  1. Agúndez JA, et al. Curr Drug Metab. 2009 Nov;10(9):998-1008.
  2. Allabi AC, et al. Clin Pharmacol Ther. 2004 Aug;76(2):113-8.
  3. Allabi AC, et al. Pharmacogenet Genomics. 2005 Nov;15(11):779-86.
  4. Blaisdell J, et al. Pharmacogenetics. 2004 Aug;14(8):527-37.
  5. Chan AT, et al. Gastroenterology. 2009 Jun;136(7):2127-2136.
  6. DeLozier TC, et al. J Pharmacol Exp Ther. 2005 Dec;315(3):1085-90.
  7. Dickmann LJ, et al. Mol Pharmacol. 2001 Aug;60(2):382-7.
  8. Kidd RS, et al. Pharmacogenetics. 2001 Dec;11(9):803-8.
  9. Kirchheiner J, et al. Pharmacogenetics. 2003 Aug;13(8):473-80.
  10. Kusama M, et al. Pharm Res. 2009 Apr;26(4):822-35.
  11. Lundblad MS, et al. Clin Pharmacol Ther. 2006 Mar;79(3):287-8.
  12. Sandberg M, et al. Br J Clin Pharmacol. 2002 Oct;54(4):423-9.
  13. Tang C, et al. Pharmacogenetics. 2001 Apr;11(3):223-35.