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
TPMT GENE TEST FOR THIOPURINE 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: 02/07/2013
NAME OF GENE: TPMT LOCATION OF GENE: 6p22.3
Variants tested RESULT Reference Genotype
rs1142345 (TPMT*3C) GG A A
rs1800584 (TPMT*4) GG G G
rs1800460 (TPMT*3B) AG G G
rs1800462 (TPMT*2) GG G G
^ When the Result for all TPMT variants tested are the same as the reference, the Combined Result is called TPMT *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 TPMT Activity Genotype Translation Version 1 (December 2010).

Interpretation

Based on this individual’s Combined Genetic Result TPMT*3A/*3C, low/absent TPMT activity is expected.


Individuals with low/absent TPMT activity are at an increased risk of developing severe, life-threatening bone marrow suppression when taking a standard dose of a thiopurine drug. A reduced dosage or alternate immunosuppressant therapy should be considered.

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 TPMT gene that are not included in this test, that influence the response to thiopurine drugs. 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

References

  1. Ansari A, et al. Aliment Pharmacol Ther. 2008; 28(8): 973-83.
  2. Ansari A, et al. Aliment Pharmacol Ther. 2002; 16(10): 1743-50.
  3. Anstey A V, et al. Br J Dermatol. 2004; 151(6): 1123-32.
  4. Black A J, et al. Ann Intern Med. 1998; 129(9): 716-8.
  5. Dong X W, et al. World J Gastroenterol. 2010; 16(25): 3187-95.
  6. Higgs J E, et al. Pharmacogenomics. 2010; 11(2): 177-88.
  7. Kaskas BA, et al. Gut. 2003; 52(1): 140-2.
  8. Lennard L, et al. Lancet 1990; 336(8709): 225-9.
  9. Oselin K and Anier K. Drug Metab Dispos. 2007; 35(9): 1452-4.
  10. Sanderson J, et al. Ann Clin Biochem 2004; 41(Pt 4): 294-302.
  11. Weinshilboum R M. and Sladek SL. Am J Hum Genet 1980; 32(5): 651-62.