GTR Test Accession:
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GTR000613060.2
Last updated in GTR: 2024-05-10
View version history
GTR000613060.2, last updated: 2024-05-10
GTR000613060.1, last updated: 2023-11-06
Last annual review date for the lab: 2024-05-28
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At a Glance
Test purpose:
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Diagnosis;
Monitoring
Conditions (3):
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Combined molybdoflavoprotein enzyme deficiency;
Hereditary xanthinuria;
Sulfite oxidase deficiency
Analytes (4):
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Hypoxanthine;
S-sulfocysteine;
Uric acid;
Xanthine
Methods (1):
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Biochemical Genetics - Analyte: Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
Target population: Help
Diagnosis of molybdenum cofactor deficiency, isolated sulfite oxidase deficiency, and …
Clinical validity:
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Not provided
Clinical utility:
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Establish or confirm diagnosis
Ordering Information
Offered by:
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Test short name:
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SSCTU
Specimen Source:
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Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Dentist
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
- Public Health Mandate
- Registered Nurse
Test Order Code:
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SSCTU
View other test codes
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CPT codes:
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Lab contact:
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Gisele (Gessi) Bentz Pino, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
biochemicalgenetics@mayo.edu
1-800-533-1710
biochemicalgenetics@mayo.edu
1-800-533-1710
Contact Policy:
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Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order:
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https://www.mayocliniclabs.com/test-catalog/overview/607001#Specimen
Order URL
Order URL
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Based on applicable state law
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Test strategy
Conditions
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Total conditions: 3
| Condition/Phenotype | Identifier |
|---|
Test Targets
Analytes
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Total analytes: 4
| Analyte | Associated Condition |
|---|
Methodology
Total methods: 1
Method Category
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Test method
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Instrument *
Analyte
Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
* Instrument: Not provided
Clinical Information
Test purpose:
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Diagnosis;
Monitoring
Clinical utility:
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Establish or confirm diagnosis
View citations (1)
- Misko AL, Liang Y, Kohl JB, Eichler F. Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency. Neurol Genet. 2020;6(4):e486. doi:10.1212/NXG.0000000000000486. Epub 2020 Jul 14. PMID: 32802950.
Target population:
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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.
View citations (3)
- Mechler K, Mountford WK, Hoffmann GF, Ries M. Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency. Genet Med. 2015;17(12):965-70. doi:10.1038/gim.2015.12. Epub 2015 Mar 12. PMID: 25764214.
- Claerhout H, Witters P, Régal L, Jansen K, Van Hoestenberghe MR, Breckpot J, Vermeersch P. Isolated sulfite oxidase deficiency. J Inherit Metab Dis. 2018;41(1):101-108. doi:10.1007/s10545-017-0089-4. Epub 2017 Oct 04. PMID: 28980090.
- Misko AL, Liang Y, Kohl JB, Eichler F. Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency. Neurol Genet. 2020;6(4):e486. doi:10.1212/NXG.0000000000000486. Epub 2020 Jul 14. PMID: 32802950.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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N/A
N/A
Will the lab re-contact the ordering physician if variant interpretation changes?
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Not provided. N/A
Not provided. N/A
Research:
Is research allowed on the sample after clinical testing is complete?
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N/A
N/A
Recommended fields not provided:
Clinical validity,
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
Will the lab re-contact the ordering physician if variant interpretation changes?,
Sample negative report,
Sample positive report
Technical Information
Test Procedure:
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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 …
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View citations (1)
- Determination of urinary S-sulphocysteine, xanthine and hypoxanthine by liquid chromatography-electrospray tandem mass spectrometry. Rashed MS, et al. Biomed Chromatogr. 2005;19(3):223-30. doi:10.1002/bmc.439. PMID: 15558695.
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Recovery was used to assess accuracy; mean recovery was 97%. Intra assay precision was performed at 3 levels: CV results ranged from 2.4% to 6.4% (N=20 each). Inter assay precision was performed at 3 levels: CV results ranged from 4.8% to 13.8% (N=20 each). The analytical measurement range is analyte …
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Assay limitations:
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Additional confirmatory testing via enzyme assays and molecular genetic testing is required for follow-up of abnormal results.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
European Research Network for the Evaluation and Improvement of Screening Diagnosis and Treatment of Inherited Metabolic Disorders - External Quality Assessment Schemes, ERNDIM EQAS
Description of PT method: Help
Formal PT program
Description of internal test validation method: Help
This test was laboratory developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements.
Yes
Method used for proficiency testing: Help
Formal PT program
PT Provider: Help
European Research Network for the Evaluation and Improvement of Screening Diagnosis and Treatment of Inherited Metabolic Disorders - External Quality Assessment Schemes, ERNDIM EQAS
Description of PT method: Help
Formal PT program
Description of internal test validation method: Help
This test was laboratory developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements.
VUS:
Software used to interpret novel variations
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N/A
Laboratory's policy on reporting novel variations Help
N/A
N/A
Laboratory's policy on reporting novel variations Help
N/A
Recommended fields not provided:
Test Confirmation,
Citations to support assay limitations,
Citations to support internal test validation method,
Citations for Analytical validity,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
FDA exercises enforcement discretion
Additional Information
Clinical resources:
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Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.