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Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent.

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, 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.
AuthorsLisa 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
JournalThe Journal of molecular diagnostics : JMD (J Mol Diagn) Vol. 11 Issue 6 Pg. 530-6 (Nov 2009) ISSN: 1943-7811 [Electronic] United States
PMID19815695 (Publication Type: Journal Article)
Topics
  • Alleles
  • Bloom Syndrome (diagnosis, genetics)
  • Canavan Disease (diagnosis, genetics)
  • Dysautonomia, Familial (diagnosis, genetics)
  • Fanconi Anemia (diagnosis, genetics)
  • Gaucher Disease (diagnosis, genetics)
  • Genetic Testing (methods)
  • Humans
  • Jews (genetics)
  • Niemann-Pick Diseases (diagnosis, genetics)
  • Tay-Sachs Disease (diagnosis, genetics)

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