The Michael J. Palmieri Metabolic Disease Laboratory is one of the few centers that offers a wide variety of testing across the spectrum of biochemical genetics. The test range covers the more typical amino acid and organic acid disorders to the more specialized disorders of mitochondrial fatty acid oxidation, disorders of glycosylation, galactosemia and disorders of the lysosome.
We are a preferred laboratory for the confirmatory and follow-up care for patients identified from both the Pennsylvania and New Jersey state New Born Screening programs. Our laboratory has the unique ability to cover the complete pathway of galactosemia enzyme deficiencies.
Our highly skilled professionals utilize state of the art technology to transform biochemical genetic testing from slow labor intensive assays with long turn-around-times to more efficient assays, which are just as complex in principal, but have greater accuracy and have faster result reporting. Critical reports are personally called to the ordering physician.
We continuously look at ways to utilize advances in technology to improve the efficiency, specificity and sensitivity of our methodologies. This has allowed for the development of assays that will facilitate the identification of increasing numbers of newly recognized disease states.