About PerkinElmer Genomics

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PerkinElmer Genomics – a part of the global organization, PerkinElmer – is a state-of-the-art comprehensive genomics laboratory in India providing biochemical genetic, cytogenetic and molecular genetic services. We offer prenatal screening, newborn screening and genomic testing services, with the commitment to protect the health of expectant women, babies, and families. More than just a laboratory, we are pioneers and the leading service provider recognized for our commitment towards maternal, fetal and newborn health. We provide our customers advanced research methodologies, evidence-based screening and confirmatory diagnostic tests of global standards.

 

Our Mission

Families and healthcare providers deserve access to the powerful and insightful knowledge held within our DNA when making difficult medical decisions. At PerkinElmer Genomics, we strive to make this a reality; faster, more affordable and at a higher quality than any other means available. By shining a light into the complex, uncharted landscape of genomics, we are shaping its future and the impact it will have on our lives.

 

Who We Are

PerkinElmer technologies have been used to screen a total of over 600 million newborns worldwide thus, saving 70 babies everyday. Over 10 million expectant women are being screening annually. Our laboratory pairs decades of prenatal screening and newborn screening experience with a leading-edge clinical genomics program to offer one of the world’s most comprehensive programs for detecting clinically significant genomic changes.

 

Our Guiding Principles

  • At PerkinElmer Genomics, patients and healthcare providers are at the heart of what we do. We believe that genetic testing is a deep-rooted partnership, and are committed to making it accessible and meaningful to the patients and families we serve around the world.
  • Leveraging PerkinElmer’s position as an industry leader in Next-Generation Sequencing (NGS) workflow solutions, we create unmatched efficiency and sustainability within the lab. These capabilities enable us to accelerate our report delivery, increase affordability and empower clinicians to utilize genetic testing earlier in the diagnostic process.
  • We understand that generating data is a small part of the genetic testing journey. Our team of experts takes pride in offering families and clinicians insightful and meaningful results. Delivering answers that empower action is our ultimate goal.

 

OUR 3 PILLARS

QUALITY
  • State-of-the-art biochemical genetics, cytogenetics and molecular genetics laboratory
  • PerkinElmer Genetics labs, worldwide, are accredited by CAP, CLIA, COLA, ISO, Joint Commission, NABL, NSAI and licensed and permitted in several states in USA: CA, CT, FL, RI, MD, NY, PA. Lab in India have CAP, NABL and ISO accreditations.
  • CE-marked instruments, reagents and assays for prenatal & newborn screening
  • Follows FMF (UK) guidelines for I Trimester Combined aneuploidy and Pre-eclampsia screening
  • Regular participation in Internationally recognized Quality Assurance Schemes:
    • UK NEQAS, Edinburgh, UK for I and II Trimester Screening
    • CDC, Atlanta, US for Newborn Screening
    • PMF, Taiwan for G6PD Screening
    • CAP Proficiency Testing Schemes for Biochemistry and Cytogenetics
  • American Board of Medical Genetics and the American Board of Bioanalysis certified laboratory scientists, genetic counselors, renowned experts in tandem mass spectrometry and next-generation sequencing as well as panel of academic and clinical advisors and consultants
  • Uses latest NovaSeq technology for sequencing that has a mean read depth of 100X and also enables detection of complex disorders
  • State-of-the-art assay design done by trained clinical geneticists
  • Report structured according to ACMG with interpretation and guidance for patients and clinicians

 

INNOVATION

INNOVATION

  • Pioneer in evidence and guideline based maternal screening in India
  • Uses Indian MoMs developed indigenously for risk assessment in both I and II Trimesters
  • Association with world’s leading laboratories/organizations for research protocols, expertise and for bringing in advanced cutting edge technological solutions
  • Pioneer in Dried Blood Spot (DBS) Technology for prenatal screening
  • First Lab in India to introduce Pre-eclampsia screening
  • Genetic testing assay design based on gene/disease evidence and sequencing complexity
  • Periodic curation of genes
  • Proprietary bioinformatics pipeline which integrates genome level for databases
  • Leveraging global expertise in India
TRUST
  • A global life-sciences company recognized as a leader in newborn screening research and development worldwide
  • One-stop solution provider of biochemical, cytogenetic and molecular genetic tests for expectant mothers, newborns, children and adults
  • State-of-the-art PerkinElmer Genetics Laboratory spanning the globe – India, Bradford, Pittsburgh, China.
  • Variant interpretation and reporting along with pre and post follow up counseling performed by Board certified genetic counselors for patients and clinicians all round the clock
  • Reliable results and customer satisfaction over the past few years have proved to be hallmark of our quality standards
  • Serves ObGyns, Fetal Medicine Specialists & Neonatologists, pediatric neurologists across India aiding clinicians make informed medical decisions

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