Biochemical Genetics Laboratory Organic Acid Analysis
INDICATIONS FOR TESTING:
Organic acid analysis of urine is indicated in infants presenting with acidosis with an anion gap, seizures, lethargy, developmental delay and failure to thrive. Combined with a serum amino acid screen, these tests provide a comprehensive screen for disorders of intermediate metabolism.
Analysis is performed by Gas Chromatography and Mass Spectrometry (GC/MS). Samples are converted to oxime derivatives prior to extraction by organic solvent. The dried extract is derivatized with trimethylsilyl (TMS) reagent. The TMS derivatives are separated by capillary gas chromatography and detected by Electron Ionization Mass Spectrometry. All significant components are checked against reference libraries for positive identification. Relative amounts are compared to an internal standard. This is a screening method and accurate quantitation of the organic acids with this method is not reliable. The overall pattern is evaluated and compared with patterns obtained from patients with verified inborn errors of metabolism and normal controls.
Organic Acid analysis is completed within a time of 3 working days following specimen receipt. Samples are batched. One-day turn-around time is offered on acutely ill infants with a strong suspicion of a metabolic disorder.
Shipping and Handling:
FOR MORE INFORMATION, PLEASE CONTACT:
Phone: (727) 767-8689 (Laboratory)
Fax: (727) 767-8514
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