Published online before print October 8, 2009

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Journal of Molecular Diagnostics 2009, Vol. 11, No. 6
Copyright © 2009 American Society for Investigative Pathology & Association for Molecular Pathology
DOI: 10.2353/jmoldx.2009.090050

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 and Kasinathan Muralidharan

From the Centers for Disease Control and Prevention, * Atlanta, Georgia; Focus Diagnostics, Cyress, California; Quest Diagnostics Nichols Institute, San Juan Capistrano, California; the Emory University School of Medicine, Atlanta, Georgia; the Mt. Sinai School of Medicine, ^¶ New York, New York; the Mayo Clinic, ^|| Rochester, Minnesota; the Genzyme Corporation, ** Westborough, Massachusetts; and the Coriell Institute for Medical Research, Camden, New Jersey

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, well-characterized 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.