|Values are valid only on day of printing.|
Evaluation of patients with a clinical suspicion of inborn errors of creatine metabolism including arginine:glycine amidinotransferase deficiency, guanidinoacetate methyltransferase deficiency, and creatine transporter (SLC6A8) defect
Depletion of cerebral creatine occurs in all 3 types of creatine deficiency syndromes (CDS): arginine:glycine amidinotransferase (AGAT) deficiency, guanidinoacetate methyltransferase (GAMT) deficiency, and creatine transporter (SLC6A8) deficiency.
Measurement of guanidinoacetate (GAA), creatine (Cr), and creatinine (Crn) in urine does distinguish among the types of creatine deficiency syndromes.
Treatment with oral creatine supplementation is effective in some types of CDS.
Creatine supplementation may cause increased creatine values.
|Test ID||Reporting Name||Available Separately||Always Performed|
|CRBO||Creatine, (Bill Only), U||No||Yes|
|CRNBO||Creatinine, (Bill Only), U||No||Yes|
|GAABO||Guanidinoacetate, (Bill Only), U||No||Yes|
CRDPU / Creatine Disorders Panel, Urine is a single test that carries the results for the panel. When the test is resulted, the following procedures are billed:
23466 / Creatine, Urine (Bill Only)
23467 / Creatinine, Urine (Bill Only)
23468 / Guanidinoacetate, Urine (Bill Only)
Liquid Chromatography-Tandem Mass Spectometry (LC-MS/MS)