Picture EBD Group BIO-Europe 2023 Munich BEU23 650x100px
Document › Details

PerkinElmer, Inc.. (9/14/17). "Press Release: PerkinElmer and In-Depth Genomics Team Up for Whole Genome Sequencing Diagnostic Program for Rare Diseases". Columbus, OH.

Organisations Organisation PerkinElmer Inc. (NYSE: PKI)
  Group PerkinElmer (Group)
  Organisation 2 In-Depth Genomics (IDG)
Products Product clinical genomic test (nucleic acid diagnostics)
  Product 2 genome sequencing
Persons Person Hegde, Madhuri (PerkinElmer 201611– CSO Global Lab Services before Emory Univ)
  Person 2 Mittal, Plavi (In-Depth Genomics 201709 CEO + Founder)

In-Depth Genomics Leverages PerkinElmer's Comprehensive Sequencing Services to Provide Whole Genome Sequencing to Neurology Patients

National Society of Genetic Counselors Annual Conference, Columbus, Ohio, Booth #535

PerkinElmer, Inc., a global leader committed to innovating for a healthier world, today announced an innovative collaboration with In-Depth Genomics (IDG) to support IDG's Whole Genome Sequencing (WGS) Diagnostic Program that will bring genetic diagnosis to patients across a wide range of neurological conditions including rare/orphan disorders. This collaboration will help pave the pathway towards improved diagnoses and treatments.

IDG, which will offer its program to any U.S. physician, will also be funding the initiative at no cost to the patient, thereby providing universal access to the latest diagnostic technology. The program plans to ultimately sequence 100,000 genomes of patients who suffer from rare and undiagnosed conditions. This program will leverage the large network of neurologists that IDG's leadership has previously worked with to screen approximately 2,500 patients through a gene panel. IDG is actively seeking pharmaceutical and biotech partners who share the vision of transforming the landscape of diagnoses and therapies.

PerkinElmer Genetics will provide clinical WGS, interpretation services, and diagnostic report generation to IDG. IDG will use the de-identified genomic and clinical data to support R&D in hundreds of rare neurological conditions.

"Our collaboration with IDG gives hope to rare disease patients who currently face the diagnostic odyssey, spending ten years on average searching for a name and effective treatment plan for their conditions," said Dr. Madhuri Hegde, Vice President and Chief Scientific Officer, PerkinElmer Laboratory Services. "Genetic insight is critical for developing a treatment plan for patients with rare diseases, many of who have no targeted therapies."

Dr. Hegde and her team of experts at PerkinElmer have more than 20 years of experience in developing high throughput sequencing methods. Dr. Hegde is actively engaged in the working groups of ACMG to define national standards for clinical genomics.

IDG is developing an interactive patient-centric education program spanning basic genomics to advances in disease therapies, which will include webinars hosted by experts from its medical and advocacy consortium, peer-to-peer support groups, and one-on-one genetic counseling sessions.

"Our IDG platform plans to engage the patient community to become an educated force capable of participating in the data collection needed to strategically push research forward. We selected PerkinElmer as our industry collaborator because of its market leadership in newborn screening and its expertise in streamlining full sample-to-sequencer workflows for high throughput next generation DNA sequencing. PerkinElmer's commitment to providing high quality analysis was the key differentiator," said Plavi Mittal, PhD, Founder & CEO, In-Depth Genomics. "This program is generating excitement from pharmaceutical and biotech companies who recognize the value of our innovative approach."

Dr. Mittal previously founded and led the Jain Foundation for 12 years with an effort to find a cure for LGMD2B, a rare form of muscular dystrophy that primarily affects adults.

Through its integrated laboratories in the U.S., India and China, PerkinElmer offers a global genomic lab testing platform that performs screening and diagnostic testing, specializing in newborn screening and high throughput next generation sequencing for rare inherited diseases,

PerkinElmer Genetics has two state-of-the-art CLIA-certified clinical laboratories based in Pittsburgh, PA and Branford, CT that process more than 500,000 samples a year. Its testing menus include newborn screening, biochemical profiling, second tier molecular confirmatory testing, Sanger and NGS-based panels, and exome and genome sequencing.

About PerkinElmer

PerkinElmer, Inc. is a global leader committed to innovating for a healthier world. Our dedicated team of 9,000 employees worldwide is passionate about providing customers with an unmatched experience as they help solve critical issues especially impacting the diagnostics, discovery and analytical solutions markets. Our innovative detection, imaging, informatics and service capabilities, combined with deep market knowledge and expertise, help customers gain earlier and more accurate insights to improve lives and the world around us. The Company reported revenue of approximately $2.1 billion in 2016, serves customers in more than 150 countries, and is a component of the S&P 500 Index. Additional information is available through 1-877-PKI-NYSE, or at

About In-Depth Genomics

In-Depth Genomics' vision is to create a US-wide marketplace to provide patients with rare diseases, easy access to genomic diagnosis and to develop a research program that will improve clinical care. IDG aims to shatter the divide between the public and the R&D process by creating a community that is actively motivated to contribute data and information to expedite the development of therapies. Despite the falling costs of genomic sequencing and the burgeoning field of big data analytics, a clinical program at this scale is unprecedented in the U.S. IDG's vision is to incite research that will revolutionize patient care. For more information, please visit

# # #

Media Contacts:

Brian Willinsky

In-Depth Genomics
Jenny Mathew

Record changed: 2023-06-05


Picture Demy-Colton BioFuture 2023 NYC View 650x200px

More documents for PerkinElmer (Group)

To subscribe to our free, monthly mass spectrometry newsletter, please send an e-mail to and simply fill the subject line with the word »MSC Newsletter«

Find more infos about advertising at [iito] web portals in our media flyer [iito] in a Nutshell [PDF file]

Please visit also our web portals for the Eurpean life sciences and the life sciences in German-speaking Europe (DE, AT & CH) at and


Picture Demy-Colton BioFuture 2023 NYC Game Changers 650x300px

» top