Creatine Disorders Panel, Serum
Use
The Creatine Disorders Panel is useful for evaluating patients with a clinical suspicion of creatine deficiency syndromes such as arginine:glycine amidinotransferase deficiency, guanidinoacetate methyltransferase deficiency, and creatine transporter deficiency using serum specimens. These conditions result in depletion of cerebral creatine, leading to developmental delays and other neurological symptoms. Measurement of guanidinoacetate, creatine, and creatinine levels, along with associated analyte ratios in serum, aids in distinguishing these syndromes.
Special Instructions
Important to consider additional testing such as the Creatine Disorders Panel, Random, Urine (CRDPU) for comprehensive diagnosis of all creatine deficiency syndromes. Patient's age and sex are required for the test processing. Creatine supplementation can impact the reliability of test results.
Limitations
Creatine supplementation may impact the reliability of test results, potentially causing inaccuracies in measured serum levels. Results should be interpreted with caution in patients undergoing creatine supplementation. It is important to consider comprehensive diagnostic workup, possibly including molecular analysis, to confirm the diagnosis, especially in creatine transporter deficiency.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
Result Turnaround Time
5-7 days
Related Documents
For more information, please review the documents below
Specimen
Serum
Volume
0.5 mL
Minimum Volume
0.1 mL
Container
Plastic vial
Collection Instructions
Centrifuge and aliquot serum into plastic vial. Send serum frozen.
Causes for Rejection
SST not acceptable, ensure serum is frozen
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 7 days |
| Frozen | 14 days |