Liquid Chromatography - Tandem Mass Spectrometry (LC-MS/MS) Stable Isotope Dilution Analysis
This test is useful for the evaluation of patients with a clinical suspicion of inborn errors of creatine metabolism, including arginine:glycine amidinotransferase (AGAT) deficiency, guanidinoacetate methyltransferase (GAMT) deficiency and cellular transport (CrT1) defects.
Interpretive report provided.
11 - 20 days
Collect random urine specimen with no preservative. Aliquot 1 mL into a plastic urine container and freeze immediately.
Panel includes creatine, creatinine, guanidinoacetic acid (GAA), and creatine/creatinine ratio. Test sent to Mayo Medical Laboratories.