GTR Test Accession:
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GTR000558422.1
Last updated in GTR: 2017-10-17
View version history
GTR000558422.1, last updated: 2017-10-17
Last annual review date for the lab: 2024-06-06
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At a Glance
Test purpose:
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Diagnosis
Conditions (4):
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Disorder of the urea cycle metabolism;
Argininosuccinate lyase deficiency;
Citrullinemia type I
more...
Analytes (1):
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Orotic acid
Methods (1):
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Biochemical Genetics - Analyte: Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
Target population: Help
Not provided
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Specimen Source:
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Who can order: Help
- Licensed Physician
Test Order Code:
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007010
View other test codes
View other test codes
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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Please refer to Directory of Services at www.labcorp.com for specimen requirements.
Order URL
Order URL
Informed consent required:
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Decline to answer
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:
Lab contact for this test,
Test strategy,
Test development
Conditions
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Total conditions: 4
Condition/Phenotype | Identifier |
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Test Targets
Analytes
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Total analytes: 1
Analyte | Associated Condition |
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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
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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N/A Biochemical Genetics
N/A Biochemical Genetics
Will the lab re-contact the ordering physician if variant interpretation changes?
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Not provided. N/A
Not provided. N/A
Recommended fields not provided:
Clinical validity,
Clinical utility,
Target population,
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?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Analytical Validation Report, "Quantification of Orotic Acid in Urine by LC-MS/MS Analysis," Unpublished LabCorp Internal Document Number VR-NOQS-BN-2008-10.
Soldin SJ, Hicks JM, eds, Pediatric Reference Ranges, Washington DC: AACC Press, 1995.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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No
No
VUS:
Software used to interpret novel variations
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N/A Biochemical Genetics
Laboratory's policy on reporting novel variations Help
N/A Biochemical Genetics
N/A Biochemical Genetics
Laboratory's policy on reporting novel variations Help
N/A Biochemical Genetics
Recommended fields not provided:
Test Confirmation,
Assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
PT Provider,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Not provided
Additional Information
Clinical resources:
Consumer resources:
IMPORTANT NOTE:
NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading.
NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice.
Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.