Creatine Disorders Panel, Urine

Centralized Core Laboratory:Chemistry

Test ID/Workstation: CRDPU / MAYO

Specimen Type: Urine

Tube Type: Specimen container

Collection Volume: 1.0 mL

Storage: Frozen

Availability: Sent to Reference Laboratory

Methodology: Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

Lab/Phone: 330-543-8418

TAT: 10-18 days

Additional Info: Useful for evaluation of patients with a clinical suspicion of inborn errors of creatine metabolism including arginine:glycine amidinotransferase, guanidinoaceteate methyltransferase deficiency, and creatine transporter (SLC6A8) defect.

CPT Code: 82540, 82570, 82542

Panel Includes: Creatine, Creatinine, Guanidinoacetate, and Creatine/Creatinine Ratio, as well as Panel Interpretation.

Synonyms: Arginine:Glycine Amidinotransferace (AGAT)Deficiency;
Guanidinoacetate Urine;
Methyltransferase (GAMT) Deficiency

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