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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 (minimum 0.5 mL)
Storage:
Frozen
Availability:
Sent to Reference Laboratory
Methodology:
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
Special Instructions:
Specimen must be frozen ASAP.
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