PerkinElmer Genetics is a global leader in providing screening and diagnostic testing for rare and inherited diseases. With over 6,500,000 babies screened for inherited diseases, we are a provider who combines high-volume screening with diagnostic genetic testing. We work collaboratively with clinicians around the world to provide accurate and timely test results necessary for the quality care of your patients.

We understand the importance of genetic testing results that are meaningful and actionable to provide you with the needed information and insight to help manage patients with complex diseases. Our comprehensive genetic testing services offer a unique approach to screen and diagnose patients with rare inherited disorders.

PerkinElmer Genetics offers the latest in technology and testing to help you answer question to the most complicated disorders.

Benefits of working with PerkinElmer Genetics

Timely Results

We have one of the shortest turnaround times for results in the industry. It’s important to receive timely results which may impact treatment decisions.


We provide a comprehensive screening and diagnostic genetic testing solution, including sample collection and logistic support. All of our results are delivered in a convenient and secure Web-based portal for easy access.


We offer the latest in screening and genetic testing technology and supported by world thought leaders in genetic testing.

Small blood sample

All of our testing requires small sample volumes that minimizes the stress on your patient and provides convenience in sending samples to us. Our testing can be run from a finger prick or heel stick.

Test Areas

Newborn ScreeningGenetic TestingWhole Genome SequencingWhole Exome SequencingGenetic Counseling Services
Newborn Screening
Newborn Screening

PerkinElmer Genetics offers a comprehensive newborn screening in the world. We screen for over 50 different disorders. We also offer 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
Whole Genome Sequencing

Whole Genome Sequencing testing is now highly recommended as a tool in the clinical diagnostic evaluation of individuals with suspected inherited genetic disorders. Whole Genome Sequencing testing is meant to provide an answer faster by looking at the entire genome at one time vs. a single gene, or set of genes, over a longer period of time. Preventing the diagnostic odyssey can be considered by Whole Genome Sequencing testing.

Learn More

Whole Exome Sequencing
Whole Exome Sequencing

The use of the Whole Exome Sequencing early in the diagnostic pathway can more than triple the diagnostic rate for one-third the cost per diagnosis over the current standard of care. This evidence provides strong support for the Whole Exome Sequencing as a clinical test early in the clinical diagnostic pathway for inherited genetic disorders

Learn More

Genetic Counseling Services

What is Genetic Counseling and how it can help you?

Genetic counseling is a process to evaluate and understand a family's risk of an inherited medical condition. A genetic counselor is a healthcare professional with specialized training in medical genetics and counseling.

Genetic Counselors work with many types of patients based on the results of a patient’s genetic test. Based on the reason and the results of your genetic testing, genetic counselors can help with the following:

Pediatric testing
Genetic counseling is appropriate for children with an identified genetic condition such as:

Genetic Counseling
  • Developmental delay
  • Autism spectrum disorders
  • Multiple health problems or birth defects
  • Abnormal physical features
  • Family history of a genetic condition
  • Suspicion of a genetic condition

Adult testing

  • The risk that they or their children may be diagnosed with/develop an adult-onset condition
  • Genetic testing options available for diagnosis or predictive testing

Genetic counseling services at PerkinElmer will be coming soon. Until then, please visit to find a genetic counselor near you.

Ordering and Getting Results

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

To order tests:

To view results:


** Resource Footer_BackToTop_Text does not exist in bundle /genetics/_system/labels.xml **