NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Screening for disorders with increased excretion of fructose, glucose, galactose, disaccharides, oligosaccharides, and succinylpurines
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
Screening for disorders with increased excretion of fructose, glucose, galactose, disaccharides, oligosaccharides, and succinylpurines. If qualitative result is suggestive of an elevation of galactose or glucose, quantitative testing will be performed at an additional charge.
Reflex Tests Lists test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)
|Test ID||Reporting Name||Available Separately||Always Performed|
|GALU||Galactose, QN, U||Yes||No|
|RGLUR||Glucose, Random, U||Yes||No|
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
Testing begins with CHOU / Carbohydrate, Urine. If qualitative results are normal, or abnormal but not indicative of galactose or glucose, testing is complete.
If qualitative results indicate the presence of galactose, GALU / Galactose, Quantitative, Urine will be performed at an additional charge.
If qualitative results indicate the presence of glucose, RGLUR / Glucose, Random, Urine will be performed at an additional charge.
Thin-Layer Chromatography (TLC), Qualitative
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Adenylosuccinate Lyase Deficiency
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.
Container/Tube: Plastic, 10-mL urine tube (Supply T068)
Specimen Volume: 5 mL
Collection Instructions: Collect an early-morning (preferred) 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.
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Saccharides (also called carbohydrates) are a group of mono-, di-, and oligosaccharides of endogenous and exogenous sources. Their presence frequently reflects dietary onsumption, but can indicate specific pathology if either a particular saccharide or a particular excretory pattern is present. Most saccharides (except glucose) have low renal thresholds and are readily excreted in the urine.
The presence of saccharides in urine is seen in some inborn errors of metabolism. Urine tests for reducing substances (eg, copper reduction test) are often used to screen for those disorders. However, in addition to sugars, a number of other substances present in biological fluids (eg, salicylates, uric acid, hippuric acid, ascorbic acid) have reducing properties. Conversely, some saccharides such as sucrose and trehalose do not have reducing properties. Other saccharides present at low concentrations may not be identified by reducing tests. Substances in urine may inhibit glucose oxidase-based tests and also, other saccharides of diagnostic importance may be present along with glucose in urine. Chromatography of urinary saccharides is, therefore, required in many instances to identify the particular species of saccharide present. Any specimen tested for urinary carbohydrates is concurrently tested for the presence of succinyl nucleosides to screen for inborn errors of purine synthesis.
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.
If positive, carbohydrate is identified.
The saccharide(s) present is named, identification of the probable source, and an interpretive comment is provided.
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
A number of compounds (identifiable by the technique used) interfere with the assay and microbial contamination can lead to uninterpretable patterns of urinary saccharides. Retesting will be recommended in these cases.
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
1. Steinmann B, Gitzelmann R, Van den Berghe, G: Disorders of fructose metabolism. In The Metabolic and Molecular Basis of Inherited Disease. Vol. 3. Eighth edition. Edited by CR Scriver, AL Beaudet, WS Sly, D Valle. New York, McGraw-Hill Book Company, 2001, pp 3635-3656
2. Race V, Marie S, Vincent M, et al: Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency. Hum Mol Genet 2000 Sep 1;9(14):2159-2165
Method Description Describes how the test is performed and provides a method-specific reference
The urine is chromatographed on a silica gel thin-layer plate. The sugars are located with naphthoresorcinol spray reagent and are identified by visual comparison with a sugar standard chromatographed on the same plate. If galactose is found, it is quantitated by an enzymatic method.(Prinz W, Meldrum W, Wilkinson L: A simple and rapid thin-layer chromatographic method for the identification of urinary carbohydrates. Clin Chim Acta 1978;82:229-232)
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.
Wednesday; 11 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.
8 days (not reported on Saturday or Sunday)
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.
82760-Galactose (if appropriate)
82945-Glucose (if appropriate)
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|