Genetic Testing Reference Material Coordination Program (GeT-RM)

The NIGMS Human Genetic Cell Repository is collaborating with the Centers for Disease Control and Prevention's (CDC) Genetic Testing Reference Material Coordination Program (GeT-RM) to distribute reference materials to the genetics community. These reference materials contain mutations of clinical importance that have been confirmed by multiple volunteer laboratories using different testing platforms.

Samples with Multiply Confirmed Mutations Currently Available


The links for the disorders listed above provide data for the reference materials that are available for distribution. This includes results of the analyses from the different laboratories that confirmed the mutations, as well as the methods used by those laboratories. The collaboration between the NIGMS Repository and the GeT-RM program to develop reference materials is an ongoing project. If you would like to participate in the verification of reference materials or would like to submit samples to the NIGMS Repository for this project, please contact the NIGMS Repository Staff at nigms@coriell.org or by phone at (800) 752-3805 in the USA and (856) 757-4848 in other countries. See the NIGMS Repository Assurance form for an explanation of appropriate use of the reference materials.

Referenced Publications

  1. Barker, et al. Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing. J Mol Diagn. 2009 Nov;11(6):553-61. (PMID: 19767587)
  2. Kalman, et al. Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent. J Mol Diagn. 2009 Nov;11(6):530-6. (PMID: 19815695)
  3. Pratt, et al.  Development of genomic reference materials for cystic fibrosis genetic testing. J Mol Diagn. 2009 May;11(3):186-93. (PMID: 19359498)
  4. Kalman, et al. Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panel. J Mol Diagn. 2011 Mar;13(2):167-74. (PMID: 21354051)
  5. Wilson, et al. Consensus characterization of 16 FMR1 reference materials: a consortium study.  J Mol Diagn. 2008 Jan;10(1):2-12. (PMID: 18165276)
  6. Pratt, et al. Characterization of 107 genomic DNA reference materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1: a GeT-RM and Association for Molecular Pathology collaborative project. J Mol Diagn. 2010 Nov;12(6):835-46. (PMID: 20889555)
  7. Kalman, et al. Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing. J Mol Diagn. 2013 Jul;15(4):518-25. (PMID: 23680132)
  8. Kalman, et al. Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testing. J Mol Diagn. 2014 Mar;16(2):273-9. (PMID: 24508304)
  9. Kalman, et al. Development of genomic reference materials for Huntington disease genetic testing. Genet Med. 2007 Oct;9(10):719-23. (PMID: 18073586)
  10. Pratt, et al. Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes: A GeT-RM Collaborative Project. J Mol Diagn. 2016 Jan;18(1):109-23. (PMID: 26621101). 

Additional Resources

  • Nunes, et al. Definitions of histocompatibility typing terms. Blood. 2011 Dec 1;118(23). (PMID: 22001389
  • Cano, et al. Common and well-documented HLA alleles: report of the Ad-Hoc committee of the american society for histocompatiblity and immunogenetics.  Hum Immunol. 2007 May;68(5):392-417. (PMID: 17462507)
  • Mack, et al. Common and well-documented HLA alleles: 2012 update to the CWD catalogue. Tissue Antigens. 2013 Apr;81(4):194-203. (PMID: 23510415)
  • Cano, et al. The CWD allele catalog in China. Hum Immunol. 2012 Jan;73(1):60. (PMID: 22056614)
  • Kalman, et al. Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting. Clinical Pharmacology and Therapeutics 2016 99, 172-185 (PMID: 26621101).