The Metabolic Genetics Section of the Core Laboratory at St. Louis Children’s Hospital offers testing designed to screen for a range of genetic metabolic diseases. The Laboratory offers screening for three molecular families: amino acids, organic acids, and carnitine esters. 

 

Organic acids are analyzed using gas chromatography / mass spectrometry yielding semiquantitative results for hundreds of constituents that may indicate pathologically altered metabolism. Analysis of amino acids and carnitine esters is accomplished by high performance liquid chromatography coupled to tandem mass spectrometers by an electrospray interface. More than 30 amino acids and carnitine esters are quantitated using this technology. 

 

The Laboratory is actively involved in research and development of new techniques and biomarkers of significance in pediatric medicine that may be analyzed by tandem mass spectrometry.

The Metabolic Genetics Section of the Core Laboratory at St. Louis Children’s Hospital offers testing designed to screen for a range of genetic metabolic diseases. The Laboratory offers screening for three molecular families: amino acids, organic acids, and carnitine esters. 

 

Organic acids are analyzed using gas chromatography / mass spectrometry yielding semiquantitative results for hundreds of constituents that may indicate pathologically altered metabolism. Analysis of amino acids and carnitine esters is accomplished by high performance liquid chromatography coupled to tandem mass spectrometers by an electrospray interface. More than 30 amino acids and carnitine esters are quantitated using this technology. 

 

The Laboratory is actively involved in research and development of new techniques and biomarkers of significance in pediatric medicine that may be analyzed by tandem mass spectrometry.