S3158- Genetic Testing: Review for the Practicing Pediatrician

Topic: Genetics/Epigenetics

Sponsors: Section on Genetics & Birth Defects (SOGBD)

Monday, October 24
4:00PM - 5:30PM
Moscone North, 133

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The options for genetic testing continue to expand. Chromosome analysis, fluorescence in situ hybridization, single gene tests, array comparative genomic hybridization, and exome sequencing are all available, and it may not always be clear which test is most appropriate in the evaluation of a particular problem. This session will provide the information a pediatrician needs to determine which type of testing is appropriate to a particular scenario as well as to engage in informed discussion with families of children who have had testing or are contemplating testing. Differences and similarities and limitations of various genetic testing options will be highlighted.

Katherine Rauen, MD, PhD

Professor, Department of Pediatrics Chief, Division of Genomic Medicine
UC Davis MIND Institute
Sacramento, California


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Joseph Shieh, MD, PhD


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