Test ID NBLD0438 Creatine Disorders Panel, Random, Urine
Reporting Name
Creatine Disorders Panel, UUseful For
Evaluating patients with a clinical suspicion of arginine:glycine amidinotransferase deficiency, guanidinoacetate methyltransferase deficiency, and creatine transporter (SLC6A8) defect
Additional Tests
Test ID | Reporting Name | Available Separately | Always Performed |
---|---|---|---|
CRBO | Creatine, (Bill Only), U | No | Yes |
CRNBO | Creatinine, (Bill Only), U | No | Yes |
GAABO | Guanidinoacetate, (Bill Only), U | No | Yes |
Testing Algorithm
This is a single test that carries the results for the panel. When the test has been resulted, the following procedures are billed:
-CRBO / Creatine, Urine (Bill Only)
-CRNBO / Creatinine, Urine (Bill Only)
-GAABO / Guanidinoacetate, Urine (Bill Only)
For more information see:
-Newborn Screen Follow-up for Guanidinoacetate Methyltransferase Deficiency (GAMT)
-Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm
Performing Laboratory
Mayo Clinic Laboratories in RochesterSpecimen Type
UrineNecessary Information
Patient's age and sex are required.
Specimen Required
Supplies: Urine Tubes, 10 mL (T068)
Container/Tube: Plastic, 10 mL urine tube
Specimen Volume: 1 mL
Collection Instructions:
1. Collect a random urine specimen.
2. Immediately freeze urine specimen.
3. If possible, do not send other tests ordered on same vial of urine. In doing so, the other tests may have increased turnaround time due to the strict frozen criteria of this assay.
Specimen Minimum Volume
0.5 mL
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Urine | Frozen | 29 days |
Special Instructions
Reference Values
Males
Age |
Creatinine (nmol/mL) |
Guanidinoacetate (nmol/mL) |
Creatine (nmol/mL) |
Creatine/ creatinine |
≤31 days |
430-5,240 |
9-210 |
12-2,930 |
0.02-0.93 |
32 days-23 months |
313-9,040 |
16-860 |
18-10,490 |
0.02-2.49 |
2-4 years |
1,140-12,820 |
90-1,260 |
200-9,210 |
0.04-1.75 |
5-18 years |
1,190-25,270 |
40-1,190 |
60-9,530 |
0.01-0.96 |
>18 years (male) |
3,854-23,340 |
30-710 |
7-470 |
0.00-0.04 |
Females
Age |
Creatinine (nmol/mL) |
Guanidinoacetate (nmol/mL) |
Creatine (nmol/mL) |
Creatine/ creatinine |
≤31 days |
430-5,240 |
9-210 |
12-2,930 |
0.02-0.93 |
32 days-23 months |
313-9,040 |
16-860 |
18-10,490 |
0.02-2.49 |
2-4 years |
1,140-12,820 |
90-1,260 |
200-9,210 |
0.04-1.75 |
5-18 years |
1,190-25,270 |
40-1,190 |
60-9,530 |
0.01-0.96 |
>18 years |
1,540-18,050 |
30-760 |
5-2810 |
0.00-0.46 |
Day(s) Performed
Tuesday
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
82540
82570
82542
Report Available
3 to 9 daysReject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Method Name
Liquid Chromatography Tandem Mass Spectometry (LC-MS/MS)
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
Secondary ID
88697SANFORD INTERFACE BUILD INFORMATION
RESULT CODE | RESULT CODE DESCRIPTION |
---|---|
16068 | SPECIMEN |
16069 | SPECIMEN ID |
16070 | SOURCE |
16071 | ORDER DATE |
16072 | REASON FOR REFERRAL |
16073 | METHOD |
16074 | CREATINE |
16075 | CREATININE |
16076 | GUANIDINOACETATE |
16077 | CREATINE/CREATININE RATIO |
16078 | CREATINE DISORDERS PANEL INTERP |
16079 | AMENDMENT |
16080 | REVIEWED BY |
16081 | RELEASE DATE |