About Our Biochemical Genetics Laboratory

Diagnosing and treating metabolic diseases early can greatly improve a patient’s quality of life. The Biochemical Genetics Laboratory at PerkinElmer Genomics exists to provide the highest quality testing and results that can proactively inform patient care and prevent or end the diagnostic odyssey for families.

Officially launched in 2022, the Biochemical Genetics Laboratory provides services that include diagnostic testing for several Inborn Errors of Metabolism (IEMs), confirmatory testing for Newborn Screen (NBS) positive cases, treatment/monitoring services for known patients, and functional analysis for Variants of Unknown Significance (VOUS) re-classification.

We are continually growing our test menu. Please contact us at 866.354.2910 if you are interested in testing options for conditions not listed below.

The PerkinElmer Difference

Testing Solutions that Inform Care

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.

One of the most critical challenges faced by those with a rare disease is the diagnostic odyssey. The average time to diagnosis for these patients is 7 years.1 PerkinElmer Genomics’ comprehensive test menu is designed to answer complex genetic questions and end the diagnostic odyssey for families.

Clinically Relevant Solutions Spanning the Care Continuum

Newborn Screening

Biochemical Genetics

Clinical Genomics


  1. National Institutes of Health NIH Record, April 15, 2022 Vol. LXXIV, No. 8.