About Whole Genome Sequencing from PerkinElmer
Being at the forefront of scientific advancements makes our Whole Genome Sequencing test stands apart in several ways.
PerkinElmer has a long history of screening and identifying patients for disease. In fact, no other company has screened more patients for disease than PerkinElmer. Since our founding in 1994, we've screened more than six million patients.
PerkinElmer Genetics, a state-of-the-art biochemical and molecular laboratory, provides one of the world's most comprehensive programs for detecting clinically-significant inherited disorders, especially in newborns. Our services are designed to identify treatable disorders before irreversible health damage occurs. Our state-of-the-art CLIA-certified clinical laboratory is based in Pittsburgh, PA. Our laboratories process more than 500,000 samples a year, which includes testing samples from newborn screening to whole genome sequencing.
The Genetics team at PerkinElmer has extensive experience in all aspects of newborn and genetic screening. The team of industry experts includes Dr. Madhuri Hegde. Madhuri Hedge has over 20 years’ experience in clinical diagnostics.
Meet Our Leadership Team
Madhuri Hegde, Ph.D., FACMG and Alice K. Tanner PhD, MS, CGC, FACMG
Dr. Hegde is the VP and Chief Scientific Officer, Global Laboratory Services at PerkinElmer. Dr. Tanner is the Director of Laboratory Services and Clinical Education, Global Laboratory Services, Diagnostics at PerkinElmer.
More About Madhuri Hegde, Ph.D., FACMG
• Dr. Hegde has over 20 years’ experience in clinical diagnostics, which includes laboratory administration, management, developing tools for analysis and interpretation for genomic variation, and consultation with molecular diagnostic companies.
• Adjunct Professor of Genetics and Pediatrics at Emory University and Georgia Tech. Recently Madhuri Hegde was elected to the ACMG Foundation for Genetic and Genomic Medicine Board of Directors.
• Recent work is focused on developing strategies for offering clinical genome sequencing for newborns and adult (neurology) populations.
• Research work is focused on neuromuscular disorders and understanding the impact rare variant burden in genetic diseases.
• A focus of her clinical work is the development and implementation of high-throughput strategies for discovery and clinical testing for rare disorders using next-generation sequencing (NGS), robotics, clinical exome and genome sequencing, and oligonucleotide array platforms.
• Previously, Dr. Hegde was the Executive Director of Emory Genetics Laboratory and Professor of Genetics and Pediatrics at Emory University.
• Extensive knowledge of CLIA and CAP regulations related to LDTs and NGS and a strong understanding of current reimbursement landscape and new CPT coding guidelines.
• Completed post-doctoral studies at Baylor College of Medicine and is board certified in Clinical Molecular Genetics. She received a B.Sc. and an M.Sc. from the University of Bombay, India, and a Ph.D. from the University of Auckland, New Zealand.
More About Alice K. Tanner PhD, MS, CGC, FACMG
• Dr. Tanner practiced as a clinical genetic counselor in the prenatal and cancer clinics, and as a laboratory genetic counselor in a clinical genetics laboratory, before moving into the clinical genetics laboratory as a director.
• Previously a Director at Emory Genetics Laboratory and Assistant Professor of Human Genetics at Emory University.
• Completed post-doctoral studies at Emory University and is board certified in Clinical Molecular Genetics and Genetic Counseling.
• Practiced as a clinical genetic counselor in the prenatal and cancer clinics, and as a laboratory genetic counselor in a clinical genetics laboratory, before moving into the clinical genetics laboratory as a director.
• Her focus is on variant interpretation, reporting of genetic test results, and genome sequencing for both patient and healthy populations
• Dr. Tanner's interests include genetics education of both non-genetics healthcare professionals and the general population.