Biochemical Genetics and Mass Spectrometry

Biochemical Genetics Laboratory:

Tests are performed to analyze blood, urine, spinal and other body fluids for abnormal metabolites. Inborn errors of metabolism (IEM) are rare genetic disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects in specific proteins (enzymes) that help break down (metabolize) parts of food. Biochemical genetic testing utilizes instrumentation such as HPLC, GCMS, and LCMSMS to determine altered levels of amino acids, organic acids, total and free cartinines, and acylcarnitines. Testing offered includes screens to evaluate levels of metabolites in newborns (supplemental and expanded from the State Newborn Screen), in patients with phenylketonuria (PKU) and a variety of other inborn errors of metabolism (IEM).

For available tests, view the Test Directory.

Mass Spectrometry Laboratory

The laboratory provides services with capabilities in methods of measuring masses of biologically relevant molecules by mass spectrometry utilizing a High Performance Liquid Chromatography Triple Quadrupole Mass Spectrometer (LC/MSMS). In addition to performing diagnostic services for inborn errors of metabolism, the laboratory also utilizes LCMSMS to determine levels for a variety of analytes including 25-Hydroxyvitamin D (D2 and D3) and drugs of abuse.

For available tests, view the Test Directory.