Creatine Disorders Panel, Random, Urine
Use
This test is useful for evaluating patients with a clinical suspicion of arginine:glycine amidinotransferase deficiency, guanidinoacetate methyltransferase deficiency, and creatine transporter deficiency. It measures the levels of guanidinoacetate, creatine, and creatinine in urine and calculates the creatine to creatinine ratio. These biomarkers help distinguish between the types of creatine deficiency syndromes (CDS), which are characterized by depletion of cerebral creatine. Early detection and differentiation of these conditions can guide effective treatment strategies, including potential oral creatine supplementation where applicable.
Special Instructions
Not provided.
Limitations
The test focuses on measurement from urine samples, which may not reflect immediate cerebral creatine status. Variability in urinary excretion or interfering substances in the urine, such as those introduced through diet or medication, could impact test results. It is important to consider patient history and possible concurrent conditions that may impact brain creatine levels or mimic deficiency syndromes.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
Result Turnaround Time
0 days
Related Documents
For more information, please review the documents below
Specimen
Urine
Volume
Not provided
Minimum Volume
Not provided