Test Code SSCTU S-Sulfocysteine Panel, Urine
Reporting Name
S-Sulfocysteine Panel, UPerforming Laboratory
Mayo Clinic Laboratories in RochesterUseful 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)
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.
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
Interpretation
Abnormal concentrations of measurable compounds will be reported along with an interpretation. The interpretation of an abnormal metabolite pattern includes an overview of the results and of their significance, a correlation to available clinical information, possible differential diagnosis, recommendations for additional biochemical testing and confirmatory studies (enzyme assay, molecular analysis), name, and phone number of contacts who may provide these studies, and a phone number of the laboratory directors in case the referring physician has additional questions.
Day(s) Performed
Tuesday, Thursday
Report Available
3 to 7 daysTest 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.