Test Id : HYOX
Hyperoxaluria Panel, Random, Urine
Useful For
Suggests clinical disorders or settings where the test may be helpful
Distinguishing between primary and secondary hyperoxaluria
Distinguishing between primary hyperoxaluria types 1, 2, and 3
Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request
Primary hyperoxalurias, classified into types 1, 2, and 3, are genetic disorders of oxalate metabolism characterized by increased urinary excretion of oxalic acid and kidney stone formation.
Secondary hyperoxaluria is an acquired condition resulting from either increased intake of dietary oxalate or altered intestinal oxalate absorption.
Highlights
A diagnostic workup in an individual with hyperoxaluria demonstrates increased concentration of oxalate in urinary metabolite screening. If glycolate, glycerate, or 4-hydroxy-2-oxoglutarate is present, a primary hyperoxaluria is indicated.
Each type of primary hyperoxaluria is distinguished from the others based on the urine profile.
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
For more information see Hyperoxaluria Diagnostic Algorithm.
Method Name
A short description of the method used to perform the test
Gas Chromatography Mass Spectrometry (GC-MS)
NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test
Aliases
Lists additional common names for a test, as an aid in searching
Glycerate
Glycolate
Oxalate
PH1 (Primary Hyperoxaluria Type 1)
PH2 (Primary Hyperoxaluria Type 2)
Primary Hyperoxaluria Type 1 (PH1)
Primary Hyperoxaluria Type 2 (PH2)
4-hydroxy-2-oxoglutarate
HOG
HOGA1
PH3 (Primary Hyperoxaluria Type 3)
Primary Hyperoxaluria Type 3 (PH3)
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
For more information see Hyperoxaluria Diagnostic Algorithm.
Specimen Type
Describes the specimen type validated for testing
Urine
Necessary Information
1. Patient age is required.
2. Biochemical Genetics Patient Information (T602) is recommended, but not required, to be filled out and sent with the specimen to aid in the interpretation of test results.
Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
Supplies: Urine Tubes, 10 mL (T068)
Container/Tube: Plastic, 10-mL urine tube
Specimen Volume: 10 mL
Collection Instructions:
1. Collect a random urine specimen.
2. No preservative.
3. Immediately freeze specimen.
Special Instructions
Library of PDFs including pertinent information and forms related to the test
Forms
1. Biochemical Genetics Patient Information (T602)
2. If not ordering electronically, complete, print, and send 1 of the following forms with the specimen:
-Biochemical Genetics Test Request (T798)
-Renal Diagnostics Test Request (T830)
Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the testing laboratory. The minimum volume is sufficient for one attempt at testing.
1.1 mL
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Urine | Frozen (preferred) | 90 days | |
| Refrigerated | 14 days |
Useful For
Suggests clinical disorders or settings where the test may be helpful
Distinguishing between primary and secondary hyperoxaluria
Distinguishing between primary hyperoxaluria types 1, 2, and 3
Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request
Primary hyperoxalurias, classified into types 1, 2, and 3, are genetic disorders of oxalate metabolism characterized by increased urinary excretion of oxalic acid and kidney stone formation.
Secondary hyperoxaluria is an acquired condition resulting from either increased intake of dietary oxalate or altered intestinal oxalate absorption.
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
For more information see Hyperoxaluria Diagnostic Algorithm.
Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Increased urinary oxalate frequently leads to kidney stone formation and kidney insufficiency. Identifying the cause of hyperoxaluria has important implications in therapy, management, and prognosis.
Hyperoxalurias are classified as primary and secondary. Primary hyperoxaluria is an inherited disorder of oxalate metabolism, while secondary hyperoxaluria is an acquired condition resulting from either increased intake of dietary oxalate or altered intestinal oxalate absorption. Primary hyperoxalurias are classified into types 1, 2, and 3.
Hyperoxaluria type 1 (PH1) is an autosomal recessive disorder resulting in a deficiency of peroxisomal alanine:glyoxylate aminotransferase due to variants in the AGXT gene. It is characterized by increased urinary oxalic, glyoxylic, and glycolic acids. PH1 is the most common type with manifestations that include deposition of calcium oxalate in the kidneys (nephrolithiasis, nephrocalcinosis) and kidney failure. Calcium oxalate deposits can be further deposited in other tissues, such as the heart and eyes, and lead to a variety of additional symptoms. Age of onset is variable with a small percentage of patients presenting in the first year of life with failure to thrive, nephrocalcinosis, and metabolic acidosis. Approximately half of affected individuals show manifestations of PH1 in late childhood or early adolescence, and the remainder present in adulthood with recurrent kidney stones. Some individuals with PH1 respond to supplemental pyridoxine therapy.
Hyperoxaluria type 2 (PH2) is due to a defect in GRHPR gene resulting in a deficiency of the enzyme hydroxypyruvate reductase. PH2 is inherited in an autosomal recessive manner and is identified by an increase in urinary oxalic and glyceric acids. Like PH1, PH2 is characterized by deposition of calcium oxalate in the kidneys (nephrolithiasis, nephrocalcinosis), and kidney failure. Most individuals have symptoms of PH2 during childhood, and it is thought that PH2 is less common than PH1.
Hyperoxaluria type 3 (PH3), due to recessive variants in HOGA1 (formerly DHDPSL), occurs in a small percentage of individuals with primary hyperoxaluria. HOGA1 encodes a mitochondrial 4-hydroxy-2-oxoglutarate aldolase that catalyzes the 4th step in the hydroxyproline pathway. PH3 is characterized biochemically by increased urinary excretion of oxalate and 4-hydroxy-2-oxoglutarate (HOG). As with PH types 1 and 2, PH type 3 is characterized by calcium-oxalate deposition in the kidneys or kidney stone formation. Most individuals with PH3 have early onset disease with recurrent kidney stones and urinary tract infections as common symptoms. Kidney failure is not a characteristic of PH3. Of note, individuals with heterozygous variants in HOGA1 can have variable and intermittent elevations of urine oxalate.
Secondary hyperoxalurias are due to hyperabsorption of oxalate (enteric hyperoxaluria); total parenteral nutrition in premature infants; ingestion of oxalate, ascorbic acid, or ethylene glycol; or pyridoxine deficiency, and may respond to appropriate therapy.
A diagnostic workup in an individual with hyperoxaluria demonstrates increased concentration of oxalate in urinary metabolite screening. If glycolate, glycerate, or HOG is present, a primary hyperoxaluria is indicated. Confirmatory testing includes molecular analysis for PH1, PH2, or PH3 (CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies; refer to the Hyperoxaluria Diagnostic Algorithm for specific Gene List IDs).
Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
GLYCOLATE
< or =17 years: < or =75 mg/g creatinine
> or =18 years: < or =50 mg/g creatinine
GLYCERATE
< or =31 days: < or =75 mg/g creatinine
32 days - 4 years: < or =125 mg/g creatinine
5 - 10 years: < or =55 mg/g creatinine
> or =11 years: < or =25 mg/g creatinine
OXALATE
< or =6 months: < or =400 mg/g creatinine
7 months - 1 year: < or =300 mg/g creatinine
2 - 6 years: < or =150 mg/g creatinine
7 - 10 years: < or =100 mg/g creatinine
> or =11 years: < or =75 mg/g creatinine
4-HYDROXY-2-OXOGLUTARATE (HOG)
< or =10 mg/g creatinine
Interpretation
Provides information to assist in interpretation of the test results
Increased concentrations of oxalate and glycolate indicate type 1 hyperoxaluria.
Increased concentrations of oxalate and glycerate indicate type 2 hyperoxaluria.
Increased concentrations of oxalate and 4-hydroxy-2-oxoglutarate indicate type 3 hyperoxaluria.
Increased concentrations of oxalate with normal concentrations of glycolate, glycerate, and 4-hydroxy-2-oxoglutarate indicate secondary hyperoxaluria.
Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
Ascorbic acid (vitamin C) will falsely elevate oxalic acid results.
Clinical Reference
Recommendations for in-depth reading of a clinical nature
1. Bhasin B, Urekli HM, Atta MG. Primary and secondary hyperoxaluria: Understanding the enigma. World J Nephrol. 2015;4(2):235-244. doi:10.5527/wjn.v4.i2.235
2. Lorenzo V, Torres A, Salido E. Primary hyperoxaluria. Nefrologia. 2014;34(3):398-412
3. Milliner DS, Harris PC, Cogal AG, et al. Primary hyperoxaluria type 1. In: Adam MP, Mirzaa GM, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2002. Updated February 10, 2022. Accessed August 28, 2023. Available at: www.ncbi.nlm.nih.gov/books/NBK1283/
4. Rumsby G, Hulton SA. Primary hyperoxaluria type 2. In: Adam MP, Mirzaa GM, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2008. Updated December 21, 2017. Accessed August 28, 2023. Available at: www.ncbi.nlm.nih.gov/books/NBK2692/
5. Milliner DS, Harris PC, Lieske JC. Primary hyperoxaluria type 3. In: Adam MP, Mirzaa GM, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2015. Updated February 9, 2023. Accessed August 28, 2023. Available at: www.ncbi.nlm.nih.gov/books/NBK316514/
6. Fraser AD: Importance of glycolic acid analysis in ethylene glycol poisoning. Clin Chem. 1998;44(8):1769
Method Description
Describes how the test is performed and provides a method-specific reference
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)
PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information
Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.
Wednesday
Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.
Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Performing Laboratory Location
Indicates the location of the laboratory that performs the test
Fees :
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.
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Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.
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
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
CPT codes are provided by the performing laboratory.
CPT codes are provided by the performing laboratory.
82542
LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.
| Test Id | Test Order Name | Order LOINC Value |
|---|---|---|
| HYOX | Hyperoxaluria Panel, U | 53710-0 |
| Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
|---|---|---|
| 50592 | Glycolate | 13751-3 |
| 50593 | Glycerate | 13749-7 |
| 50594 | Oxalate | 13483-3 |
| 29984 | Reviewed By | 18771-6 |
| 29982 | Interpretation | 59462-2 |
| 38049 | 4-hydroxy-2-oxoglutarate | 13678-8 |