Maximizing Diagnostic Yield When It’s Needed Most – Ultrarapid Genome Sequencing in Newborns
Ultrarapid genome sequencing is steadily gaining adoption as a first-tier diagnostic test in the neonatal population. Join Madhuri Hegde, PhD, FACMG, in examining how PerkinElmer Genomics leverages dried blood spot (DBS) sampling to provide meaningful results in only five days.
Presented at the NSGC annual conference in 2021, join Lora Bean, PhD, FACMG, in discussing how phenotypically driven interpretation reduces non-actionable variants of uncertain significance (VOUS) in clinical reporting and patient management.
The why is about the who. Patients and providers are at the heart of what we do at PerkinElmer Genomics. Listen to Dr. Madhuri Hedge and our advocacy partners describe how PerkinElmer Genomics helps patients every day with its advanced clinical genomics.
See how our laboratory in Chennai, India is providing state-of-the-art focused exome sequencing for cardiomyopathies, to help patients avoid sudden cardiac arrest and help providers offer optimal clinical care.