Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent.
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.
Kalman
Lisa
L
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
Wilson
Jean Amos
JA
Buller
Arlene
A
Dixon
John
J
Edelmann
Lisa
L
Geller
Louis
L
Highsmith
William Edward
WE
Holtegaard
Leonard
L
Kornreich
Ruth
R
Rohlfs
Elizabeth M
EM
Payeur
Toby L
TL
Sellers
Tina
T
Toji
Lorraine
L
Muralidharan
Kasinathan
K
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