Creatine Disorders Panel, Urine
Also known as: CRTN DIS U
Use
The Creatine Disorders Panel, Urine is used as an initial test to diagnose or rule out creatine deficiency syndromes following clinical presentation. This assay helps in identifying elevated levels of urinary creatine, which could indicate creatine transporter deficiency, an X-linked inherited disorder of creatine transport. It is recommended to order the Creatine Disorders Panel, Serum or Plasma simultaneously for proper result interpretation.
Special Instructions
Clinical information is needed for appropriate interpretation. Additional required information includes age, gender, diet (e.g., TPN therapy), drug therapy, and family history. A Biochemical Genetics Patient History Form is available on the ARUP Web site or by contacting ARUP Client Services.
Limitations
This test is developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration (FDA). The test is performed in a CLIA certified laboratory and is intended for clinical purposes. It may not detect all individuals with creatine transporter deficiency, particularly females who may have milder phenotypes.
New York Approved
Methodology
Mass Spectrometry
Biomarkers
LOINC Codes
- 14683-7
- 34155-2
- 34275-8
Result Turnaround Time
2-9 days
Related Documents
For more information, please review the documents below
Specimen
Urine
Volume
2 mL
Minimum Volume
0.5 mL
Container
ARUP standard transport tube
Collection Instructions
Transfer 2 mL of random urine to an ARUP standard transport tube and freeze immediately.
Storage Instructions
Frozen storage is required.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 6 hours |
| Refrigerated | 24 hours |
| Frozen | 6 months |