PerkinElmer introduces affordable clinical genomics services

Aug 3 2017

PerkinElmer, Inc. , a global leader committed to innovating for a healthier world, today announced the launch of PerkinElmer Genetics' clinical genomics services. Through its integrated laboratories in the U.S., India and China, PerkinElmer offers a global genomic lab testing platform that performs screening and diagnostic testing, specializing in newborn screening and high throughput next generation sequencing for rare inherited diseases.

PerkinElmer Genetics has two state-of-the-art CLIA-certified clinical laboratories based in Pittsburgh, PA and Branford, CT that process more than 500,000 samples a year. Their testing menus include newborn screening, biochemical profiling, 2^nd tier molecular confirmatory testing, Sanger and NGS-based panels, and exome and genome sequencing.

Today, PerkinElmer Genetics has launched affordable whole exome sequencing (WES) and whole genome sequencing (WGS) services. These services are also offered in combination with biochemical profiling targeted for rapid WES and WGS for genetic disease diagnosis. While initially focused on our newborn and ViaCord customers, PerkinElmer Genetics has also developed a biochemical and molecular testing menu to meet the needs of other segments, such as pharmaceutical companies, and the markets it serves in China and India.

"We are pleased to extend our portfolio to include clinical WGS which expands the continuum of care from preconception to newborns. This offering will provide clinicians insights into the complex nature of rare and inherited diseases," said Dr. Madhuri Hegde, vice president and chief scientific officer for laboratory services of PerkinElmer's Diagnostics business group. "Because sequencing is not a stand-alone option, our ability to use dried blood spot samples and assimilate molecular and biochemical data from our global laboratories will improve interpretation of genomic variants."

PerkinElmer's Diagnostics business group focuses on reproductive health, infectious disease screening and genomics offerings for oncology and other molecular tests through its broad range of instruments, reagents, assay platforms and software offerings.