title: 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.
authors.affiliation: Laboratory Practice Evaluation and Genomics Branch, National Center for Preparedness, Detection and Control of Infectious Diseases, Centers for Disease Control and Prevention, 1600 Clifton Road, Mailstop G23, Atlanta, GA 30333, USA. LKalman@cdc.gov
authors.forename: Lisa
authors.initials: L
authors.lastname: Kalman
authors.forename: Jean Amos
authors.initials: JA
authors.lastname: Wilson
authors.forename: Arlene
authors.initials: A
authors.lastname: Buller
authors.forename: John
authors.initials: J
authors.lastname: Dixon
authors.forename: Lisa
authors.initials: L
authors.lastname: Edelmann
authors.forename: Louis
authors.initials: L
authors.lastname: Geller
authors.forename: William Edward
authors.initials: WE
authors.lastname: Highsmith
authors.forename: Leonard
authors.initials: L
authors.lastname: Holtegaard
authors.forename: Ruth
authors.initials: R
authors.lastname: Kornreich
authors.forename: Elizabeth M
authors.initials: EM
authors.lastname: Rohlfs
authors.forename: Toby L
authors.initials: TL
authors.lastname: Payeur
authors.forename: Tina
authors.initials: T
authors.lastname: Sellers
authors.forename: Lorraine
authors.initials: L
authors.lastname: Toji
authors.forename: Kasinathan
authors.initials: K
authors.lastname: Muralidharan
mesh_terms: D000483:Alleles; D001816:Bloom Syndrome / Q000175:diagnosis / Q000235:genetics; D017825:Canavan Disease / Q000175:diagnosis / Q000235:genetics; D004402:Dysautonomia, Familial / Q000175:diagnosis / Q000235:genetics; D005199:Fanconi Anemia / Q000175:diagnosis / Q000235:genetics; D005776:Gaucher Disease / Q000175:diagnosis / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007585:Jews / Q000235:genetics*; D009542:Niemann-Pick Diseases / Q000175:diagnosis / Q000235:genetics; D013661:Tay-Sachs Disease / Q000175:diagnosis / Q000235:genetics