Dr. Uzay Görmüs - PerkingElmer Genomics Sweden

What does our laboratory in Sweden specialize in?

Meet Dr. Uzay Gormus as she discusses the services and capabilities of PerkinElmer Genomics Sweden, located in Sollentuna.

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Whole Genome Sequencing with PerkinElmer Genomics

Facioscapulohumeral Muscular Dystrophy with June Kinoshita and Rojan Kavosh

The fascinating genetics of FSHD is discussed including diagnosis through whole genome optical mapping in this podcast with host Kira Dineen and guests from the FSHD Society and PerkinElmer Genomics.

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Maximizing Diagnostic Yield When It’s Needed Most – Ultrarapid Genome Sequencing in Newborns

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.

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NSGC Presentation When Bigger isn’t Always VOUSier

When Bigger isn’t Always VOUSier

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.

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Behind the Curtain: How CNVs are Detected by NGS Technology

Behind the Curtain: How CNVs are Detected by NGS Technology

Presented by Fen Guo, PhD, on how next-generation sequencing can detect copy number variations (CNV) in panels, exome and genome sequencing, and our CNGnome® product.

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Lessons from COVID-19 Testing – From ABC it’s not as easy as 1,2,3

Lessons from COVID-19 Testing – From ABC it’s not as easy as 1,2,3

Featuring Ravindra Kolhe, MD, PhD, FCAP from the Medical College of Georgia at Augusta University.

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Whole Genome Sequencing with PerkinElmer Genomics

Whole Genome Sequencing with PerkinElmer Genomics

Dr. Madhuri Hegde of PerkinElmer Genomics explores whole-genome sequencing with podcast host Kira Dineen from DNA Today.

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Dried Blood Spot 101: From Newborn Screening to Genome Sequencing

Dried Blood Spot 101: From Newborn Screening to Genome Sequencing

Learn more about the clinical utility of dried blood spot technology in clinical genome sequencing, including reduced patient burden and ease of use, with Yang Wang, PhD.

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How are we addressing limited genomic databases?

We’re PerkinElmer Genomics. Nice to Meet You.

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.

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In a Heart Beat

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.

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