Pharma & Research

Providing Comprehensive Screening and Diagnostic Testing

PerkinElmer Genomics has a long history of screening and identifying patients with rare diseases. Since our founding in 1994, we have screened more than 70 million newborns. We help save the lives of thousands of babies every year.

Leveraging PerkinElmer’s position as an industry-leader in workflow solutions and genetic expertise, we create unmatched efficiency, quality, and sustainability within the lab. These capabilities enable us to accelerate our report delivery and increase affordability empowering clinicians and researchers to utilize genetic testing earlier in the diagnostic process.

Global Solutions

With a network of laboratories in the USA, China, and India, PerkinElmer Genomics can support research and testing collaborations around the globe. Our collaborators can access capabilities such as:

Sample Collection and Logistics
  • Collection packet design, manufacturing and distribution
  • Ability to support testing on different sample types: Dried blood spots (DBS), Saliva (SV), Whole blood (WB)
  • Microsampling with DBS provides convenient and inexpensive sample transportation
Clinical Grade Custom Assay Development and Testing Service Programs
  • PerkinElmer Genomics can build customized assays to the appropriate technology
  • Expertise in utilizing DBS for Mass spectrometry metabolites, Enzyme activity, Next Generation Sequencing, Nucleic acid analysis, and Immunoassays
  • Develop customized testing service programs in support of our collaborators’ clinical research needs
Versatile Delivery Models
  • Full service testing services via our network of clinically CAP certified global testing labs
  • Lab in Lab model
  • Customer contracted manufacturing services

Experience in Genomics

PerkinElmer Genomics has extensive experience in genomics via our team of certified Biochemical Genetics, Cytogenetics and Molecular Genetics experts.

Our Service Offerings

PerkinElmer Genomics offers a wide array of services to pharmaceutical companies and researchers who are in need of screening patients for genetic diseases. We enable research and testing service programs to deploy globally through our network of labs and our enhanced access to testing.

Clinical Genomics


Our AnyPanel™ test gives clients access to thousands of genes and panel combinations to tailor testing specifically to each patient’s needs. When ordering the AnyPanel™ test, you can either chose from a list of over 200 expertly-curated panels OR create your own panel simply by submitting the list of genes that you would like analyzed.

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Whole Exome Sequencing

We combine enhanced coverage of known disease genes and regions with exon-level copy number variant detection to offer one of the most comprehensive whole exome sequencing tests on the market.

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Whole Genome Sequencing

Combining superior coverage of the exome (over 98% covered > 20x) with a six week turn-around time, our Whole Genome Sequencing test is designed to maintain the same quality and TAT that clients deserve from an exome sequencing test, while also providing access to additional valuable information throughout the genome.

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Biochemical Screening and Genetics

Newborn Screening

With over 70 million babies screened globally since 1994, PerkinElmer Genomics is one of the largest independent newborn screening programs in the world. With a menu ranging from single biochemical screening tests to large newborn screening genetic testing panels, we strive to be a one-stop-solution for all of your newborn screening needs.

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Biochemical Testing

Supplementing our Newborn Screening and Clinical Genomics program, PerkinElmer Genomics offers a comprehensive suite of biochemical analyte and genetic testing.

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Experience the Three Pillars comprising the PerkinElmer Genetics Institutional Advantage Program


Pursuant to applicable federal and/or state laboratory requirements, PerkinElmer Genomics has established and verified the accuracy and precision of its testing services. Tests are developed and performance characteristics determined by PerkinElmer Genomics.

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