Galactose, Quantitative, Urine
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Screening test for galactosemia. Additional testing is required to investigate cause of abnormal results.
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
This test is not appropriate for the diagnosis or monitoring of galactosemia.
See Galactosemia Testing Algorithm in Special Instructions
Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Galactose, QN, U
Specimen Type Describes the specimen type needed for testing
Specimen Required Defines the optimal specimen. This field describes the type of specimen required to perform the test and the preferred volume to complete testing. The volume allows automated processing, fastest throughput and, when indicated, repeat or reflex testing.
Collection Container/Tube: Clean, plastic urine collection container
Submission Container/Tube: Plastic, 6-mL tube (Supply T465)
Specimen Volume: 5 mL
Collection Instructions: Collect a random urine specimen.
Specimen Minimum Volume Defines the amount of specimen required to perform an assay once, including instrument and container dead space. Submitting the minimum specimen volume makes it impossible to repeat the test or perform confirmatory or perform reflex testing. In some situations, a minimum specimen volume may result in a QNS (quantity not sufficient) result, requiring a second specimen to be collected.
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.
|Urine||Frozen (preferred)||365 days|
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Galactosemia is an autosomal recessive disorder that results from a deficiency of 1 of the 3 enzymes catalyzing the conversion of galactose to glucose: galactose-1-phosphate uridyltransferase (GALT), galactokinase (GALK), and uridine diphosphate galactose-4-epimerase (GALE). GALT deficiency is the most common cause of galactosemia and is often referred to as classic galactosemia. The complete or near-complete deficiency of GALT enzyme is life-threatening if left untreated. Complications in the neonatal period include failure to thrive, liver failure, sepsis, and death; even with survival, long-term intellectual disability can result. Galactosemia is treated by a galactose-restricted diet, which allows for rapid recovery from the acute symptoms and a generally good prognosis. Despite adequate treatment from an early age, individuals with galactosemia remain at increased risk for developmental delays, speech problems, and abnormalities of motor function. Females with galactosemia are at increased risk for premature ovarian failure. Based upon reports by newborn screening programs, the frequency of classic galactosemia in the United States is approximately 1 in 30,000, although literature reports range from 1 in 10,000 to 1 in 60,000 live births.
A comparison of plasma and urine galactose and blood galactose-1-phosphate (Gal-1-P) levels may be useful in distinguishing between the 3 forms of galactosemia; however, these are only general patterns and further confirmatory testing would be required to make a diagnosis.
For more information regarding diagnostic strategy, refer to Galactosemia: Current Testing Strategy and Aids for Test Selection, Mayo Medical Laboratories Communique 2005 May;30(5).
See Galactosemia Testing Algorithm in Special Instructions for additional information.
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.
In patients with galactosemia, elevated galactose in plasma or urine may suggest ineffective dietary restriction or compliance; however, the concentration of galactose-1-phosphate (Gal-1-P) in erythrocytes (GAL1P/80337 Galactose-1-Phosphate [Gal-1-P], Erythrocytes) is the most sensitive index of dietary control. Increased concentrations of galactose may also be suggestive of severe hepatitis, biliary atresia of the newborn, and, in rare cases, galactose intolerance.
If galactosemia is suspected, additional testing to identify the specific enzymatic defect is required. See Galactosemia Testing Algorithm in Special Instructions for follow-up of abnormal newborn screening results, comprehensive diagnostic testing, and carrier testing. See GALT/8333 Galactose-1-Phosphate Uridyltransferase (GALT), Blood for GALT testing and GALK/8628 Galactokinase, Blood for GALK testing. Uridine diphosphate galactose-4-epimerase (GALE) enzyme testing is not available at Mayo Medical Laboratories, upon request, specimens will be forwarded to an appropriate laboratory. Results should be correlated with clinical presentation and confirmed by specific enzyme or molecular analysis.
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
This test is not recommended for follow-up of positive newborn screening results. For this purpose use GAL1P/80337 Galactose-1-Phosphate (Gal-1-P), Erythrocytes, GCT/84360 Galactosemia Reflex Test, Blood are the most appropriate tests.
The preferred test for monitoring dietary therapy is GAL1P/80337 Galactose-1-Phosphate (Gal-1-P), Erythrocytes.
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
1. Elsas LJ: Galactosemia. NCBI GeneReviews. Updated 2010, Oct 26. Available from www.ncbi.nlm.nih.gov/books/NBK1518
2. Holton JB, Walter JH, Tyfield LA: Galactosemia. In The Metabolic and Molecular Bases of Inherited Disease. 8th edition. Edited by CR Scriver, AL Beaudet, D Valle, et al. New York, McGraw-Hill, 2001, pp 1553-1587
Method Description Describes how the test is performed and provides a method-specific reference
The formation of nicotinamide adenine dinucleotide (NADH; reduced form) measured by the increase in absorbance at 340 nm is proportional to the amount of D-galactose in the sample. (Kurz G, Wallenfels K: Methods of Enzymatic Analysis. Vol. 3. 2nd edition. Edited by HV Bergmeyer. Verlag Chemie, Weinheim. New York and London, Academic Press,1974, pp 1279-1282)
Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.
Monday; 10 a.m.
Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.
Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result
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 The location of the laboratory that performs the test
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's instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR), Investigation Use Only (IUO) product, or a Research Use Only (RUO) product.
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. 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 Medical Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
LOINC® Code Information Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the result codes returned for this test or profile.
|Result ID||Reporting Name||LOINC Code|
|8765||Galactose, QN, U||2310-1|