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Hyperoxaluria Panel, Random, Urine
Clinical Genetic Test
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offered by
Mayo Clinic Laboratories
View lab's test page
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GTR Test Accession: Help GTR000603786.2
INHERITED DISEASEMETABOLIC DISEASEREPRODUCTIVE HEALTH ... View more
Last updated in GTR: 2024-04-25
View version history
Last annual review date for the lab: 2024-05-28 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (5): Help
Primary hyperoxaluria; Hyperoxaluria; Primary hyperoxaluria type 3 more...
Analytes (1): Help
Oxalate, 4-hydroxy-2-oxoglutarate (HOG), Glycolate, Glycerate
Methods (1): Help
Biochemical Genetics - Analyte: Gas chromatography–mass spectrometry (GC-MS)
Target population: Help
Distinguishing between primary and secondary hyperoxaluria. Distinguishing between primary hyperoxaluria …
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Mayo Clinic Laboratories
View lab's website
View lab's test page
Test short name: Help
HYOX
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Lab contact: Help
Gisele (Gessi) Bentz Pino, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
[email protected]
1-800-533-1710
Contact Policy: Help
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: Help
https://www.mayocliniclabs.com/test-catalog/overview/86213#Specimen
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test strategy
Conditions Help
Total conditions: 5
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 1
Analyte Associated Condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Analyte
Gas chromatography–mass spectrometry (GC-MS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)

Target population: Help
Distinguishing between primary and secondary hyperoxaluria. Distinguishing between primary hyperoxaluria types 1, 2, and 3.
View citations (5)
  • Milliner DS, Harris PC, Sas DJ, Cogal AG, Lieske JC. Primary Hyperoxaluria Type 1. 2002 Jun 19 [updated 2024 Aug 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. PMID: 20301460.
  • Rumsby G, Hulton SA. Primary Hyperoxaluria Type 2. 2008 Dec 02 [updated 2017 Dec 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. PMID: 20301742.
  • Lorenzo V, Torres A, Salido E. Primary hyperoxaluria. Nefrologia. 2014;34(3):398-412. doi:10.3265/Nefrologia.pre2014.Jan.12335. Epub 2014 Apr 30. PMID: 24798559.
  • Primary and secondary hyperoxaluria: Understanding the enigma. Bhasin B, et al. World J Nephrol. 2015;4(2):235-44. doi:10.5527/wjn.v4.i2.235. PMID: 25949937.
  • Milliner DS, Harris PC, Sas DJ, Lieske JC. Primary Hyperoxaluria Type 3. 2015 Sep 24 [updated 2023 Feb 09]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. PMID: 26401545.
Research:
Is research allowed on the sample after clinical testing is complete? Help
N/A
Recommended fields not provided:
Clinical validity, What is the protocol for interpreting a variation as a VUS?, 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: Help
Urine samples corresponding to 0.25 mg of creatinine (not to exceed 1 mL of urine) are oximated to stabilize one of the target analytes, 4-hydroxy-2-oxoglutaric. The urine is then acidified and extracted. After evaporation, the dry residue is silylated and analyzed by capillary gas chromatography mass spectrometry.(Unpublished Mayo method)
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Recovery was used to assess accuracy; mean recovery was 100%. Intra assay precision was performed at 2 levels: CV results ranged from 5.3%-13.3% (N=10 each). Inter assay precision was performed at 2 levels: CV results ranged from 2.4%-10.6% (N=5 each). The analytical measurement range varies per analyte but ranges from … View more
Assay limitations: Help
Ascorbic acid (vitamin C) will falsely elevate oxalic acid results.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
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.
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: Help
Category: FDA exercises enforcement discretion
Additional Information

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.