The Genetic Testing Quality Control Materials Program (GTQC)-Development of Verified Quality Control Materials for Huntington Disease, Fragile X and Ashkenazi Jewish Panel Genetic Testing
Background: Molecular genetic testing for a number of disorders, including Huntington disease (HD), fragile X and disorders on the Ashkenazi Jewish (AJ) panel (Bloom syndrome, Canavan disease, familial dysautonomia, Niemann-Pick disease, Tay-Sachs disease, Gaucher disease, glycogen storage disease, Fanconi anemia and mucolipidosis type IV) has increased in recent years. However, despite the growing test volume and the rapidly increasing number of tests being offered, the necessary QC materials are not available for many tests. These materials are needed to assure quality testing and for development of new genetic tests.
Method: The Centers for Disease Control and Prevention’s (CDC) Genetic Testing Quality Control Materials Program (GTQC), in collaboration with members of the genetic testing community, have several projects to develop verified QC materials for HD, fragile X, and AJ disorder panel genetic testing.
The QC needs for HD, fragile X and AJ genetic testing were defined by consultation with clinical laboratory directors, analysis of current test panels and assessment of available QC materials. To develop QC materials, cell lines with clinically important triplet repeat expansions or alleles were located at Coriell Cell Repositories or were donated to Coriell by the genetics community. DNA prepared from these cell lines was tested by volunteer laboratories using a variety of molecular methods to verify the mutations.
Conclusion: The QC materials verified by this project will be described in the presentation. These materials, which are publicly available from Coriell, are useful for quality control, proficiency testing, test development and research, and should help to improve the quality and accuracy of genetic testing. These studies validate our voluntary community based approach to improving public availability of QC materials for genetic testing. More info on the GTQC website, http://www.phppo.cdc.gov/dls/genetics/qcmaterials/default.aspx.