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HelpTest Code AAUCD Amino Acids, Urea Cycle Disorders Panel, Plasma
Reporting Name
Amino Acid, Urea Cycle Panel, PUseful For
Follow-up of patients with urea cycle disorders
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Specimen Type
PlasmaOrdering Guidance
Body fluids are not acceptable specimens for this test.
For testing on urine specimens, order AAPD / Amino Acids, Quantitative, Random, Urine.
For testing on spinal fluid specimens, order AACSF / Amino Acids, Quantitative, Spinal Fluid.
Necessary Information
1. Patient's age is required.
2. Include family history, clinical condition (asymptomatic or acute episode), diet, and drug therapy information.
Specimen Required
Patient Preparation: Patient should fast overnight (4 hours minimum); infants should have specimen collected before next feeding (2-3 hours without total parenteral nutrition if possible).
Supplies: Sarstedt Aliquot Tube, 5 mL (T914)
Collection Container/Tube: Green top (sodium heparin)
Submission Container/Tube: Plastic vial
Specimen Volume: 0.5 mL
Collection Instructions:
1. Collect specimen and place on wet ice. Note: Thrombin-activated tubes should not be used for collection.
2. Centrifuge immediately or within 4 hours of collection if the specimen is kept at refrigerated temperature.
3. Being careful to ensure that no buffy coat is transferred, aliquot plasma into a plastic vial and freeze.
Specimen Minimum Volume
0.3 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Plasma | Frozen | 14 days |
Reference Values
Glutamine
<24 months: 356-857 nmol/mL
2-17 years: 353-790 nmol/mL
≥18 years: 447-774 nmol/mL
Ornithine
<24 months: 32-171 nmol/mL
2-17 years: 32-148 nmol/mL
≥18 years: 39-154 nmol/mL
Citrulline
<24 months: 8-42 nmol/mL
2-17 years: 12-44 nmol/mL
≥18 years: 18-57 nmol/mL
Arginine
<24 months: 28-164 nmol/mL
2-17 years: 28-156 nmol/mL
≥18 years: 45-144 nmol/mL
Argininosuccinic Acid
<5 nmol/mL
Reference value applies to all ages.
Day(s) Performed
Monday through Friday
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
82136
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| AAUCD | Amino Acid, Urea Cycle Panel, P | 100368-0 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 32440 | Glutamine | 20643-3 |
| 32441 | Citrulline | 20640-9 |
| 32442 | Argininosuccinic Acid | 32227-1 |
| 32443 | Arginine | 20637-5 |
| 32444 | Ornithine | 20652-4 |
| 32445 | Interpretation (AAUCD) | 49247-0 |
Interpretation
The quantitative results of glutamine, ornithine, citrulline, arginine, and argininosuccinic acid with age-dependent reference values are reported without added interpretation. When applicable, reports of abnormal results may contain an interpretation based on available clinical interpretation.
Clinical Reference
1. Brusilow SW, Horwich AL. Urea cycle enzymes. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA. eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw Hill; 2019. Accessed April 22, 2024. https://ommbid.mhmedical.com/content.aspx?bookid=2709§ionid=225084071
2. Haberle J, Burlina A, Chakrapani A, et al. Suggested guidelines for diagnosis and management of urea cycle disorders: First revision. J Inherit Metab Dis. 2019;42(6):1192-1230. doi:10.1002/jimd.12100
3. Valle D, Simell O. The Hyperornithinemias. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA. eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw Hill; 2019. Accessed April 22, 2024. https://ommbid.mhmedical.com/content.aspx?bookid=2709§ionid=225083672
4. Ah Mew N, McCarter R, Izem R, et al. Comparing Treatment Options for Urea Cycle Disorders. Washington (DC): Patient-Centered Outcomes Research Institute (PCORI); December 2020
Report Available
3 to 5 daysMethod Name
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.