Test Code LAB3827 S-Sulfocysteine Panel, Urine
Additional Codes
Sulfocys Pnl
Ordering Guidance
This is the recommended test when clinical features are suggestive of, or when molecular testing results suggest, molybdenum cofactor deficiency, isolated sulfite oxidase deficiency, and hereditary xanthinuria. This test includes measurement of relevant purines in addition to urine S-sulfocysteine and uric acid. If the clinical features are suggestive of a purine and pyrimidine metabolism disorder or are nonspecific, order PUPYU / Purine and Pyrimidines Panel, Random, Urine.
This test will be canceled if ordered with PUPYU.Necessary Information
Patient's age is required.
Specimen Required
Supplies: Urine Tubes, 10 mL (T068)
Container/Tube: Plastic, 10-mL urine tube
Specimen Volume: 3 mL
Collection Instructions: Collect a random urine specimen.
Useful For
Diagnosis of molybdenum cofactor deficiency, isolated sulfite oxidase deficiency, and hereditary xanthinuria
Monitoring patients with molybdenum cofactor deficiency or isolated sulfite oxidase deficiency who are on treatment
Method Name
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
Reporting Name
S-Sulfocysteine Panel, USCH Clinical System Name: S-Sulfocysteine Panel, Urine
Specimen Type
UrineSpecimen Minimum Volume
2 mL
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Urine | Frozen | 90 days |
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitabilityReference Values
|
0-3 years |
4-6 years |
7-12 years |
13-18 years |
>18 years |
Hypoxanthine |
≤65 |
≤30 |
≤30 |
≤30 |
≤30 |
Xanthine |
≤54 |
≤21 |
≤35 |
≤15 |
≤20 |
Uric Acid |
350-2500 |
200-2000 |
200-1400 |
150-700 |
70-700 |
S-Sulfocysteine |
≤11 |
≤5 |
≤5 |
≤5 |
≤5 |
All results reported as mmol/mol creatinine
Method Description
Diluted, filtered urine is mixed with an internal standard mixture and analyzed for hypoxanthine, xanthine, uric acid and S-sulfocysteine by liquid chromatography-tandem mass spectrometry. The ratios of the extracted peak areas of the purine and pyrimidine analytes to the added internal standards are used to calculate the concentration of purines and pyrimidines present in the sample.(la Marca G, Casetta B, Malvagia S, et al. Implementing tandem mass spectrometry as a routine tool for characterizing the complete purine and pyrimidine metabolic profile in urine samples. J Mass Spectrom. 2006;41[11]:1442-1452; Rashed MS, Saadallah AAA, Rahbeeni Z, et al. Determination of urinary S-sulphocysteine, xanthine and hypoxanthine by liquid chromatography-electrospray tandem mass spectrometry. Biomed Chromatogr. 2005;19[3]:223-230; Monostori P, Klinke G, Hauke J, et al. Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation. PLoS One. 2019;14[2]:e0212458. doi:10.1371/journal.pone.0212458)
Day(s) Performed
Tuesday, Thursday
Report Available
3 to 7 daysTAT: 5 - 9 d
Performing Laboratory
Mayo Clinic Laboratories in RochesterTest 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
82542
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
SSCTU | S-Sulfocysteine Panel, U | 94397-7 |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
607007 | Interpretation (SSCTU) | 59462-2 |
607002 | Hypoxanthine | 38366-1 |
607003 | Xanthine | 38371-1 |
607004 | Uric Acid | 34385-5 |
607005 | S-Sulfocysteine | 33876-4 |
607006 | Reviewed By | 18771-6 |
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.