Our Areas of Expertise

PerkinElmer Genomics is a global leader in genetic and genomic testing focused on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Our services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, we answer complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families.

Newborn Screening

With over 7.5 million newborns screened since 1994, PerkinElmer Genomics is a global leader in newborn screening solutions

AnyPanel

Choose from thousands of disease-associated genes to tailor a custom gene panel to your patients’ testing needs

Whole Exome Sequencing

Designed to include enhanced coverage of known disease-causing genes and the inclusion of curated deep-intronic and promoter pathogenic variants

Whole Genome Sequencing

A comprehensive solution to detect more clinically relevant variants and achieve higher diagnostic yield

Why choose PerkinElmer Genomics?

Experience  
• Led by world-renowned geneticists and a team of board-certified geneticists
• Over 20 years’ experience in NBS and rare disease screening with over 500M babies tested globally

Technologies & Assay Design
• Meeting or surpassing industry standards with regards to testing coverage and assay design
• Utilizing the newest in NGS technologies

Sustainability
• Leveraging PerkinElmer’s position as an industry-leader in NGS work-flow solutions, we create unmatched efficiency and sustainability within the lab

Turn-Around-Times  
• Accelerating the delivery of results to clinicians and families with industry-leading TATs for panels, exomes, and genomes

Finding the Right Test
• Comprehensive and flexible testing menu to ensure that you can always find the test that best meets the patient’s needs

Sample Collection
• Multiple sample types to ensure quick and timely sample collection

Reducing Costs 
• A commitment to pass on cost savings realized through our unique automation and stream-lined processes to our clients

Overall Costs 
• Industry-leading pricing structures across testing platforms, from genome to targeted single site testing

Cost Certainty
• Transparent pricing structure based on testing platform – Panel vs. Exome vs. Genome

We’re PerkinElmer Genomics
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Who We Serve

SERVING

Healthcare Providers

At PerkinElmer Genomics, patients and healthcare providers are at the heart of what we do. We believe that genomic 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.

SERVING

Patients & Parents

PerkinElmer Genomics pairs decades of newborn screening experience with leading-edge clinical genomic testing to offer one of the world’s most comprehensive programs for detecting clinically significant genomic changes. Working together with physicians, PerkinElmer Genomics aims to deliver knowledge that can empower health.

SERVING

Pharma & Research

PerkinElmer Genomics has a long history of screening and identifying patients with rare diseases. Since our founding in 1994, we have screened more than 7 million newborns and helped save the lives of thousands of babies every year. Partner with us to harness the latest in genomic testing.

Knowledge to Empower Health

Contact PerkinElmer Genomics for more information

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