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.
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
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