Development of Genomic DNA Reference Materials for Genetic Testing of Disorders Common in People of Ashkenazi Jewish Descent
| Autor: | Louis Geller, Arlene Buller, Jean Amos Wilson, William Edward Highsmith, Kasinathan Muralidharan, Tina Sellers, Ruth Kornreich, Elizabeth M. Rohlfs, Toby L. Payeur, Lisa Edelmann, Leonard M. Holtegaard, Lisa V. Kalman, Lorraine Toji, John Dixon |
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| Rok vydání: | 2009 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities medicine.medical_specialty Canavan Disease Population Disease Pathology and Forensic Medicine Fanconi anemia Dysautonomia Familial medicine Humans Genetic Testing education Alleles Genetic testing Niemann-Pick Diseases Genetics education.field_of_study Gaucher Disease Tay-Sachs Disease medicine.diagnostic_test business.industry Tay-Sachs disease nutritional and metabolic diseases medicine.disease Canavan disease Fanconi Anemia Jews Molecular Medicine Medical genetics business Bloom Syndrome Medical genetics of Jews Regular Articles |
| Zdroj: | The Journal of Molecular Diagnostics. 11:530-536 |
| ISSN: | 1525-1578 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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