Development of genomic DNA reference materials for genetic testing of disorders common in people of Ashkenazi Jewish descent

Lisa Kalman, Jean Amos Wilson, Arlene Buller, John Dixon, Lisa Edelmann, Louis Geller, William Edward Highsmith, Leonard Holtegaard, Ruth Kornreich, Elizabeth M. Rohlfs, Toby L. Payeur, Tina Sellers, Lorraine Toji, Kasinathan Muralidharan

Research output: Contribution to journalArticle

9 Scopus citations

Abstract

Many recessive genetic disorders are found at a higher incidence in people of Ashkenazi Jewish (AJ) descent than in the general population. The American College of Medical Genetics and the American College of Obstetricians and Gynecologists have recommended that individuals of AJ descent undergo carrier screening for Tay Sachs disease, Canavan disease, familial dysautonomia, mucolipidosis IV, Niemann-Pick disease type A, Fanconi anemia type C, Bloom syndrome, and Gaucher disease. Although these recommendations have led to increased test volumes and number of laboratories offering AJ screening, wellcharacterized genomic reference materials are not publicly available. The Centers for Disease Control and Prevention-based Genetic Testing Reference Materials Coordination Program, in collaboration with members of the genetic testing community and Coriell Cell Repositories, have developed a panel of characterized genomic reference materials for AJ genetic testing. DNA from 31 cell lines, representing many of the common alleles for Tay Sachs disease, Canavan disease, familial dysautonomia, mucolipidosis IV, Niemann-Pick disease type A, Fanconi anemia type C, Bloom syndrome, Gaucher disease, and glycogen storage disease, was prepared by the Repository and tested in six clinical laboratories using three different PCR-based assay platforms. A total of 33 disease alleles was assayed and 25 different alleles were identified. These characterized materials are publicly available from Coriell and may be used for quality control, proficiency testing, test development, and research.

Original languageEnglish (US)
Pages (from-to)530-536
Number of pages7
JournalJournal of Molecular Diagnostics
Volume11
Issue number6
DOIs
StatePublished - Nov 2009

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Medicine

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    Kalman, L., Wilson, J. A., Buller, A., Dixon, J., Edelmann, L., Geller, L., Highsmith, W. E., Holtegaard, L., Kornreich, R., Rohlfs, E. M., Payeur, T. L., Sellers, T., Toji, L., & Muralidharan, K. (2009). Development of genomic DNA reference materials for genetic testing of disorders common in people of Ashkenazi Jewish descent. Journal of Molecular Diagnostics, 11(6), 530-536. https://doi.org/10.2353/jmoldx.2009.090050