PerkinElmer Genetics has a long history of screening and identifying patients for rare disease. In fact, no other company has screened more patients for rare disease than PerkinElmer. Since our founding in 1994, we have screened more than six million newborns. We help save the lives of thousands of babies every year.

We’re proud to continue the tradition by offering clinical genetic services to help provide a continuum of care to our patients and clinicians. We’re now launching comprehensive genetic testing services that can help your organization screen for and confirm rare diseases.

Our goal is to help pharmaceutical and biotech companies in successful drug development and commercialization by providing diagnostic testing solutions.

PerkinElmer Genetics Newborn Screening and Rare Disease Diagnostics

Benefits for You and Your Patient Populations

Faster Clinical Trials

  • Find and enroll target patients faster
  • Exclude patients incapable of benefiting from therapy

Save Lives, Improve Care, Enable Better Outcomes

  • Find patients that can benefit from therapy faster
  • Avoiding the diagnostic odyssey that delays therapy
  • Accurately monitor efficacy and progress toward treatment goals

Faster Adoption and Revenue Ramps for Commercial Sales

  • Give practitioners actionable tools to find appropriate patients for new therapies, and for established legacy therapies

Global Expertise in Rare Disease Screening and Diagnostics

Gain Increased Patient Access and Faster Time-to-Market

Newborn Screening

Gain patient and market access through our global sales, marketing, and regulatory channels, including test development and lab services in US, China, and India.

Biochemical and Genetic Rare Disease Testing

Accelerate creation of optimized rare disease and newborn screens through our service laboratories.


Gain rapid insights and results from our Biochemical and Next Generation Sequencing Data.

Assay and biomarker testing development

Test development and clinical validation services under CLIA.

PerkinElmer Global Solutions

As part of PerkinElmer, Inc., (a global life-sciences company recognized as the leader in newborn screening research and development worldwide), we are privileged to have access to a network of experts and resources to help deliver a comprehensive solution.

Sample Collection

  • Collection packet design, manufacturing and distribution
  • Microsampling provides convenient and inexpensive sample transportation
  • Expertise in DBS assays

Clinical Assays Development

  • Mass spec metabolites
  • Enzyme activity
  • Next Generation Sequencing
  • Nucleic acid analysis
  • Immunoassays
  • Collaborations with academic leaders

Delivery Models

  • U.S. CLIA lab services – offering your tests worldwide
  • IVDs with worldwide distribution
  • Customer contracted manufacturing services

Test Areas

Newborn ScreeningGenetic TestingWhole Genome SequencingWhole Exome SequencingCustomized Testing ServicesAssay Development
Newborn Screening
Newborn Screening

PerkinElmer Genetics offers a comprehensive newborn screening in the world. We screen for over 50 different disorders. PerkinElmer Genetics also offers the latest genetic testing to confirm the results from the primary screen.

Our newborn screening genetic testing services includes both biochemical genetic screening and molecular genetic testing. We provide 2nd tier DNA confirmation testing for several disorders found to have common mutations for presumptive positive newborn screens. In addition to newborn DNA testing, we provide confirmatory DNA sequencing-based testing. This testing is performed when people have suspected diagnosis of a particular disorder as well as clinical manifestations of the disease.

Genetic Testing

PerkinElmer Genetics is a global leader in screening and genetic testing services. We offer the latest in advanced technologies coupled with the expertise and resources to deliver the results that you need and will benefit the patient. Click here to view list of all of the biochemical and molecular genetic testing that is offered.

The benefit of working with a single solution provider will help provide you the answers that you need to help manage your patients.

Whole Genome Sequencing

Learn More

Whole Exome Sequencing

Learn More

Customized Testing Services

PerkinElmer Genetics has the expertise and resources to offer comprehensive testing services solution to provide pharma/biotech companies with a diagnostic testing solution for both clinical trial work and on-market therapeutics.

Our goal is to help find patients with rare inherited diseases through comprehensive diagnostic solutions.

Our services include design, development, and execution of a testing services program. Options that can be included in the program include:

  • Assay development and clinical validation—utilizing variety of technologies including tandem mass spectrometry and next generation sequencing
  • Sample collection devices and manufacturing
  • Global support and logistics
  • Client services and Genetic Counseling
  • Patient sample screening and confirmatory testing
  • Professional and certified reporting
Assay Development

Often times there are no clinically validated tests readily available or accessible for patients suffering from rare diseases. This leads to patients never being identified with a cause for their underlying disorder. This makes it very hard to find patients for clinical trials or patient candidates for on-market therapeutics.

PerkinElmer Genetics works with clients in developing new clinical tests to help identify these patients. We have a long history in developing many rare disease screening and genetic tests. We utilize many different types of technologies to help get to an answer, including but not limited to: mass spectrometry, immunofluorescence, PCR, Sanger and next generation sequencing. PerkinElmer Genetics develops and validates assays under CLIA.

Ordering and Getting Results

Here are some quick links for you to get to ordering and results sections

To order tests:

To view results:

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