Dana-Farber/Boston Children’s Dr. Lisa Diller provides insight on newborn screening for childhood cancer conditions like retinoblastoma and Li-Fraumeni syndrome.
All tagged newborn screening
#226 NICU Whole Genome Sequencing with Hong Li and Madhuri Hegde
Geneticists Hong Li and Madhuri Hegde explore the utilization of rapid whole genome sequencing in the NICU setting.
#177 Whole Genome Sequencing with PerkinElmer Genomics
Dr. Madhuri Hegde of PerkinElmer Genomics explores whole genome sequencing
#146 Jo Bhakdi on Whole Exome Sequencing
Quantgene’s Founder and CEO explains whole exome sequencing including the technology, cost, which disorders can be diagnosed, and the possible future uses.
#133 DTC Series: Melanie Hardy on Carrier Screening
JScreen genetic counselor shares insight on carrier screening including conditions more common in the Ashkenazi Jewish community.
#129 DTC Series: Picture Genetics on At-Home, Physician-Mediated, Genetic Testing
Lab Director Dr. Samuel Strom and Genetic Counselor Jessica Shiles share their insights about 4 Picture Genetics testing kits.
#77 Rare Disease Day 2018
Recap of CT’s event and interviews with Angelman Syndrome and ALD patient advocates