The StepOne® Comprehensive Biochemical Profile is one of the most comprehensive biochemical newborn screening tests in the world. This screening test can detect more than 50 disorders in newborns from just a few drops of blood.
Second-tier testing options can be used to confirm the presence of a genetic disorder after an abnormal newborn screen result. These tests may consist of follow-up biochemical screens and/or genetic tests comprising the most common disease-causing mutations for a specific condition.
Biochemical and Metabolic Testing
Our complete biochemical testing menu pairs biochemical assays (such as enzyme analysis) with a multitude of genetic testing assays to ensure providers both the tools that they need, along with the options that that they prefer, when treating and diagnosing biochemical conditions.
A metabolic autopsy can help provide answers to an unexplained death in a child or infant less than three years of age, or where an unexplained fatty liver or cardiomyopathy is present. The Metabolic Autopsy Service can screen for congenital adrenal hyperplasia, methylmalonic acidemias, propionic acidemia, isovaleric acidemia, and glutaric acidemia, among other inborn errors in organic acid and fatty acid metabolism on a filter paper dried blood specimen.
Whole Genome Sequencing (WGS)
PerkinElmer Genomics is one of the first laboratories to offer Whole Genome Sequencing on a clinical basis in effort to try to maximize clinical diagnostic yield for our clients and patients. Combining superior coverage of the exome (over 98% covered > 20x) with a six week turn-around time, our whole genome sequencing test is designed to maintain the same quality and TAT that clients deserve from an exome sequencing test, while also providing access to additional valuable information throughout the genome.
Whole Exome Sequencing (WES)
We combine enhanced coverage of known disease genes and regions with exon-level copy number variant detection to offer one of the most comprehensive whole exome sequencing tests on the market.
Leveraging genomic sequencing technologies and bioinformatics tools, the CNGnome™ test by PerkinElmer Genomics is creating a new standard for detecting large copy number changes (CNV) throughout the genome.
Our AnyPanel test gives clients access to thousands of genes and panel combinations to tailor testing specifically to each patient’s needs. When ordering AnyPanel you can either chose from a list of over 200 expertly-curated panels OR create your own panel simply by submitting the list of genes that you would like analyzed.