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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.

Project Title Gene Tested (OMIM) GeT-RM Consensus Genotypes of Characterized Samples
 Publication PMID Repository Samples
5,10-@Methylenetetrahydrofolate Reductase1 MTHFR
 Download Data
 19767587 Samples
Bloom Syndrome2 RECQL3 Download Data
 19815695 Samples
Breast Cancer/Ovarian Cancer1 BRCA1
 Download Data
 19767587 Samples
Canavan Disease2 ASPA
 Download Data
 19815695 Samples
Cystic Fibrosis3 CFTR Download Data
 19359498 Samples
Duchenne Muscular Dystrophy4 DMD
 Download Data
 21354051 Samples
Early Onset Breast Cancer/Pancreatic Cancer1 BRCA2 Download Data
 19767587 Samples
Familial Dysautonomia2 IKBKAP Download Data 19815695 Samples
Fanconi Anemia, Group C2 FANCC Download Data 19815695 Samples
Fragile X-Linked Mental Retardation5 FMR1 Download Data 18165276 Samples
Gaucher Disease2 GBA Download Data
 19815695 Samples
Glycogen storage Storage Disease2 G6PC Download Data
 19815695 Samples
HLA Gene11 HLA-A, HLA-B, HLA-C, HLA-DRB1, HLA-DRB3, HLA-DRB4, HLA-DRB5, HLA-DQA1, HLA-DQB1, HLA-DPA1, HLA-DPB1 Download Data
 29959025 Samples
Huntington Disease9 IT15 Download Data 18073586 Samples
Mucolipidosis type Type IV2 MCOLN1
 Download Data 19815695 Samples
Multiple Endocrine Neoplasia Type IIA1 RET Download Data 19767587 Samples
Myotonic Dystrophy Type 17 DMPK Download Data 23680132 Samples
Niemann-Pick type Type A and B2 SMPD1
 Download Data 19815695 Samples
Pharmacogenomics (CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1)6 CYP2D6, CYP2C19, CYP2C9, VKORC1, UGT1A1
 Download Data 20889555 Samples
Pharmacogenomics (28 PGx genes)10 CYP1A1, CYP1A2, CYP2A6, CYP2B6, CYP2C8, CYP2C9, CYP2C19, CYP2D6, CYP2E1, CYP3A4, CYP3A5, CYP4F2, DPYD, GSTM1, GSTP1, GSTT1, NAT1, NAT2, SLC15A2, SLC22A2, SLCO1B1, SLCO2B1, TPMT, UGT1A1, UGT2B7, UGT2B15, UGT2B17, VKORC1
 Download Data 26621101 Samples
Pharmacogenomics (CYP2D6)12 CYP2D6 Download Data 31401124

Samples
Pharmacogenomics (Tier 2 variants)14 CYP2C9, CYP2C19, VKORC1, CYP2C, GGCX Download Data 34020041

Samples
Pharmacogenomics (CYP2C8, CYP2C9, and CYP2C19)15 CYP2C8, CYP2C9, CYP2C19 Download Data 35134542 Samples
Pharmacogenomics (TPMT and NUDT15)16 TPMT, NUDT15 Download Data 35931342 Samples
Pharmacogenomics (CYP3A4 and CPY3A5)17 CYP3A4, CYP3A5 Download Data

37354993

 Samples
Protease Inhibitor 1 (Alpha-1-Antitrypsin Deficiency)1 SERPINA1 Download Data 19767587 Samples
Rett Syndrome8 MECP2 Download Data 24508304 Samples
Spinal Muscular Atrophy13 SMN1, SMN2 Download Data 33197628 Samples
Tay-Sachs Disease2 HEXA
 Download Data
 19815695 Samples


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. 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).
  11. Bettinotti M. et al. Characterization of 108 Genomic DNA Reference materials for 11 Human Leukocyte Antigen Loci: A GeT-RM Collaborative Project. J Mol Diag 2018, 20: 703-715. (PMID: 29959025).
  12. Gaedigk A. et al. Characterization of Reference Materials for Genetic Testing of CYP2D6 Alleles: A GeT-RM Collaborative Project. J Mol Diagn. 2019 Nov; 21(6):1034-1052. (PMID: 31401124).
  13. Prior T. et al. Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A GeT-RM Collaborative Project. J Mol Diagn. 2021 Jan;23(1):103-110. (PMID: 33197628).
  14. Pratt V. et al. Characterization of Reference Materials with an Association for Molecular Pathology Pharmacogenetics Working Group Tier 2 Status: CYP2C9, CYP2C19, VKORC1, CYP2C Cluster Variant, and GGCX: A GeT-RM Collaborative Project. J Mol Diagn. 2021 Aug;23(8):952-958. (PMID: 34020041).
  15. Gaedigk A. et al. CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis: A GeT-RM Collaborative Project J Mol Diagn. 2022 Apr;24(4):337-350 (PMID: 35134542)
  16. Pratt V. et al. Characterization of Reference Materials for TPMT and NUDT15: A GeT-RM Collaborative Project J Mol Diagn. 2022 Oct;24(10):1079-1088. (PMID: 35931342)

  17. Characterization of Reference Materials for CYP3A4 and CYP3A5: A (GeT-RM) Collaborative Project. J Mol Diagn. 2023 Sep;25(9):655-664. doi: 10.1016/j.jmoldx.2023.06.005. (PMID: 37354993)


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).