PerkinElmer Genomics review – How reliable are these tests?

7 Facts from our PerkinElmer Genomics Review

1. Location: Pittsburgh, Pennsylvania, United States
2. Products: A vast range of products and services categorized into Clinical Genomics, Biochemical Screening and Testing, and Genetic Counseling. Services under these categories include Whole Genome Sequencing, Whole Exome Sequencing, AnyPanel test, CNGnome tests, Step One Comprehensive Biochemical Profile, and more
3. Ordering: Physicians must order the tests on behalf of the patient and interpret the results
4. Health consultations: the platform offers professional and expert services for patients considering genetic testing or wanting help and suggestions moving forward. The firm offers family sessions and individual therapy
5. Report availability: Physicians will access reports after receiving notification that results are ready
6. Costs: Not available online
7. Complimentary products: Nebula Genomics (Whole Genome Sequencing that can be used in consultation with a medical professional)

This review is written with the intent to be as unbiased as possible. However, it represents the opinion of an individual reviewer and is therefore subjective. Furthermore, at Nebula Genomics we seek to educate the public about the benefits of Whole Genome Sequencing. Information about our Whole Genome Sequencing DNA test is therefore incorporated into the review.

February 2, 2024

Pros and Cons

Pros

• Offers a large range of tests
• Has specified newborn and children tests
• Offers Whole Genome Sequencing

Cons

• Most prices are not public
• Physicians must order the tests on behalf of the patient
• Insurance may not cover the tests

Introduction

PerkinElmer Genomics is a genetic testing company based in the United States. It offers a vast range of products and services that provide patients of all ages, including newborns, with their genetic data and how it may influence their health conditions. Overall, the service aims to help physicians create better treatment plans for their patients.

PerkinElmer Genomics, established in 1990, has a long history of excellence. It is based in Pittsburgh. The company is a subsidiary of the incorporation of PerkinElmer Inc. and shares the goal and mission of its parent organization. It has two state-of-the-art CLIA-certified clinical laboratories in Pittsburgh, PA and Branford, CT, processing more than 500,000 samples yearly.

Interested in the most comprehensive DNA sequencing? Nebula Genomics offers affordable whole genome sequencing that decodes 100% of your genome. Click here to learn more!

The Science Behind PerkinElmer Genomics

PerkinElmer Genomics’ mission is to ensure that every person has access to a genetic test with corresponding reports to help them live more healthily. The company focuses on deep testing and diagnoses of different genetic issues and has dedicated comprehensive tests for newborns.

PerkinElmer offers Whole Genome Sequencing, which decodes 100% of your DNA and is the most comprehensive way to analyze genetic predispositions.

PerkinElmer is a platform that physicians and medical professionals can depend on to understand their patient’s needs and how their health can be improved.

PerkinElmer aims to ensure better results with diagnostics by focusing on three services: Clinical Genomics, Biochemical Screening, and Genetics and genetic counseling.

Review of PerkinElmer Genomics Products

Clinical Genomics

These products are some of the most popular next-generation sequencing options and consist of four major categories.

Whole Genome Sequencing (WGS)

PerkinElmer Genomics offers Whole Genome Sequencing on a clinical basis to give patients a full reading of their genetics, susceptibility to certain diseases, and how they can better manage their lives by implementing health practices. The reports are reliable and medical practitioners can use them to set up a better treatment plan for patients.

Whole Genome Sequencing covers at least 99% of the exome, and users can access results within six to eight weeks. 

There are several options for WGS:

• WGS – Proband only: Diagnostic whole genome sequencing and mitochondrial genome sequencing that decodes the whole genome with a mean coverage of 40X and complete coverage of over 5,400 disease-associated genes. 
• WGS – Trio: This test allows the WGS-Proband to be performed for the patient and two family members. 
• WGS – Ultrarapid Proband only: This option allows the WGS-Proband test to be performed with a shorter turnaround time of 5-8 days. 
• WGS – Ultrarapid Trio: This option allows the STAT WGS-Proband test to be performed for the patient and two family members. 

You can also opt for a reanalysis of your DNA data through the ordering page.

Whole Exome Sequencing (WES)

This option is less comprehensive than WGS, as it only covers the exone coding region of the genome and not 100%. According to the company, studies suggest that up to 15% of disease-causing variants are not associated with the exome. However, the test can save patients money if they are looking for a specific known disease-causing variant. 

Results for WES are available within four to six weeks for the WES tests and twelve to fourteen days with the WES-Rapid options. 

CNGnome

With CNGnome, PerkinElmer leverages genomic sequencing technologies and bioinformatics tools to create a new standard that detects large copy number changes (CNV) throughout the genome. The CNGnome provides deeper analysis for medical experts to interpret for better treatment prescriptions.

AnyPanel™

The AnyPanel is the backbone on which all reports, analyses, and diagnostics lie. With its AnyPanel tests, PerkinElmer offers users the chance to access thousands of genes and panel combinations and tailor testing specifically to their needs. When ordering this product, patients can choose from a list of over 200 expertly-curated panels or create a unique personalized panel by submitting the list of genes they want to be analyzed.

Newborn Screening

Under the new birth screening, two tests are available. Generally, results are available within three to five days. 

The StepOne® Comprehensive Biochemical Profile is a comprehensive biochemical newborn screening test that can detect more than 50 disorders in newborns by analyzing a few drops of blood.

The second-tier testing options for a newborn are taken in the absence of The StepOne® Comprehensive Biochemical Profile, and a possible genetic disorder is suspected. These testing options may include follow-up biochemical screens and genetic tests comprising a specific condition’s most common disease-causing mutations.

Genetic Counseling

PerkinElmer also offers genetic counseling for patients who may want to know more about the roles their genes could play in certain conditions for themselves and their families. The firm houses expert health care practitioners who help users grasp their conditions or predispositions and the important choices they may have to make to ensure great health.

The company’s counselors offer services such as Ailment genetic risk assessment, education on handling genetic conditions, providing support, and helping patients on the road to recovery.

Other companies that offer genetic counseling include Genome Medical, a nationwide virtual consultation business.

Review of Ordering PerkinElmer Genomics Tests

PerkinElmer offers various types of tests, and the ordering patterns for these are slightly different.

Below is an example of how a doctor might order and submit the AnyPanel.

AnyPanel

Physicians must select the correct test for their patients and fill out the AnyPanel^TM test requisition form. They can order a pre-curated test or create a custom. For an AnyPanel™ pre-curated, physicians will write the appropriate code on the requisition form. For an AnyPanel™ – Custom test, physicians must include a full list of genes that they want analyzed for the patient.

They will obtain a sample for testing from the patient using one of the provided PerkinElmer Genomics test packs. The test pack can be obtained by contacting the company to ship it to the physician’s office. They can also opt to send the testing kit directly to the patient.

When sending back, physicians must ensure that they label patients’ samples with their name and date of birth and include an informed consent form and a requisition form.

Patients’ medical records or clinical notes are included with the sample at the time of test submission. Results are available within three to five weeks. 

Other tests are:

• Whole Genome Sequencing Tests
• CNGnome
• StepOne comprehensive biochemical profile
• Other biochemical and metabolic testing

Review of PerkinElmer Genomics Reports

Some examples of publicly available samples include the WGS and WES reports, which have a similar format. The sample report below covers the Whole Genome Sequencing and Deletion/Duplication Trio Analysis.

At the top of the first page is the patient identification information. Immediately below that are the main results of the report, including the type of clinically significant variants detected and not detected.

Following this highlight is a breakdown of the relevant findings and interpretation of specific genes. Since this sample is a Trio test, the results can be compared among the family members tested, which is why this sample result was able to note that one copy of the variant was detected in the patient’s mother.

If the test detects additional findings unrelated to the phenotype in question, they may appear after this section in a similar table.

The next section of the report provides recommendations for the ordering physician.

Finally, the report concludes with notes, genetic statistics, and a methods and limitations section.

Review of PerkinElmer Genomics Costs

The company does not make most of its prices available publicly online. For pricing, customers must email or call.

While PerkinElmer does not make its pricing system known, it does note that it accepts most forms of payments.

Since customers can order one of the newborn screens, those prices are available:

StepOne® Comprehensive Biochemical Profile: $299 for patients, $438 for institutions

Insurance billing

PerkinElmer states that it is generally friendly with users looking to offer insurance billing methods, and it accepts commercial insurance for most of its tests. However, it currently states that its services are considered an out-of-network laboratory for most commercial insurance plans, and users may not be able to use this option. It expects this to change with time as it partners with major insurance plans.

Institutional billing

Users connected with an institution or provider that handles individual medical costs may be able to use institutional billing. This is different from insurance billing, as non-insurance companies are responsible for the payments. PerkinElmer Genomics sends the costs or expenses of services offered to the institutions.

Patient billing

Users are responsible for this payment and can make it through different available means when their physician orders the tests.

Review of PerkinElmer Genomics Privacy

PerkinElmer uses the PerkinElmer Inc. overarching policies and states how the company protects users’ data.

The company may use clients’ personal and medical data to develop the brand and learn better ways to treat and address various issues. It also states that customers’ data could be shared with third-party companies that help with reporting or lab services.

However, the company emphasizes that it doesn’t sell clients’ data or use it for anything not genetic-related. It also allows clients to remove their data from the sites once they are done with the services offered.

Nebula Genomics

PerkinElmer is trusted worldwide by health institutes, and its reports are generally reliable. It is a clinical testing company, meaning that while its tests are diagnostic, they must be ordered in collaboration with a physician. Insurance may be able to cover some of the testing costs, but PerkinElmer Genomics, in particular currently has limited operations with major insurance companies. 

Nebula is a genetic testing company that offers services similar to PerkinElmer and a bit more. Nebula provides comprehensive testing that users can use to get reliable information on their genetic health.

Like PerkinElmer, Nebula offers Whole Genome Sequencing and, as such, sequences all 20,000 genes and 2 million bases in the human genome. This means that, just like PerkinElmer, users can get the full results on their DNA and know how it relates to their health. Nebula focuses on genetic predispositions that cover the entire genome at a reasonable price. Reports are easy to understand and do not require a physician or health practitioner to analyze them. The company offers great pricing for its test kits and makes them available to the public.

	PerkinElmer	Nebula
DNA testing method	Whole Genome Sequencing, Whole Exome Sequencing, and more	30x Whole Genome Sequencing
Number of genes tested	Varied	20,000
Research Library	No	Yes
Ordering	Only physicians can order tests and will also interpret the results	Users can order the test and interpret the results themselves
Ancestry reporting	No	Perform deep ancestry reporting with the complete Y chromosome and mtDNA sequencing
Cost	Users must contact the company for a quote	$0, $99, $299

Did you like our PerkinElmer Genomics review? You can read more reviews on our blog and check out our complete guide to the best DNA test kit and other home tests.

Other companies

This company offers a variety of tests for different inquiries. Other companies that offer different testing options include:

• 24Genetics (various tests for health, ancestry, sports, skin, pharmacogenomics, WES, and WGS)
• Chronomics (wellness and epigenetic tests)
• DNACode (fitness & nutrition, skin, and ancestry options)
• Dynamic DNA Labs (at-home tests for health, ancestry, skin, personality, and more)
• Genebase (genetic tests for lifestyle, health, disease, traits, behavior, and ancestry)
• GenebyGene (diagnostics, ancestry, and special services for forensics and researchers)
• GenePlanet (European testing company for lifestyle, ancestry, and health)
• Genes for Good (research project with health surveys)
• Mapmygenome (preventative genetics, diagnostics, and Indian ancestry)
• MiaDNA (health, wellness, traits, and fitness for adults and children)
• Muhdo (genetic predispositions and epigenetics)
• Toolbox Genomics (various DNA, epigenetics, and health tests)

Other companies that offer these types of tests include:

Whole Genome Sequencing

• Color (low-coverage whole genome sequencing available)
• Dante Labs (30x whole genome sequencing, most reports are available at an additional cost)
• Full Genomes (options to upload data or test for a comprehensive report)
• Sequencing.com (whole genome sequencing)
• Veritas Genetics (30x whole genome sequencing and advanced diagnostics)
• YSEQ (30x whole genome sequencing)

Whole Exome Sequencing

• Ambry Genetics (various clinical diagnostics)
• Dante Labs (whole exome sequencing)
• Full Genomes (whole exome sequencing)
• Invitae (various diagnostics)
• tellmeGen (whole exome sequencing for health and ancestry)