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DNA diagnosis confirms hemoglobin deletion in newborn screen follow-up
Urvashi Bhardwaj1, Yao-Hua Zhang, Desirée S Jackson
1Departments of Pediatrics and Human Genetics, David Geffen School of Medicine at UCLA, Mattel Children's Hospital at UCLA, and Molecular Biology Institute, UCLA, Los Angeles, California 90095-1752, USA. emccabe@mednet.ucla.edu
The Journal of Pediatrics
|March 18, 2003
Abstract:
Molecular genetic confirmatory testing with polymerase chain reaction amplification is integral to neonatal hemoglobinopathy screening programs. In this study, we demonstrate applicability of polymerase chain reaction-based testing for the common deletions in blacks responsible for hereditary persistence of fetal hemoglobin. This approach will provide rapid diagnostic clarification in newborn screening follow-up.