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