Test Catalog

Test Id : GATOL

Galactitol, Quantitative, Urine

Useful For
Suggests clinical disorders or settings where the test may be helpful

Monitoring effectiveness of treatment in patients with galactosemia

 

Establishing a baseline level prior to initiating treatment for galactosemia

Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test may be used as an aid in the diagnosis of galactosemia.

 

Urinary galactitol is often not affected by acute dietary ingestion of galactose; therefore, it is not a substitute for GAL1P / Galactose-1-Phosphate, Erythrocytes in monitoring diet.

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.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

Galactitol, QN, U

Aliases
Lists additional common names for a test, as an aid in searching

Galactosemia

GALT deficiency

GALK deficiency

GALE deficiency

Galactokinase deficiency

Epimerase deficiency

UDP Epimerase deficiency

Specimen Type
Describes the specimen type validated for testing

Urine

Necessary Information

Patient's age is required.

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: 2 mL

Collection Instructions:

1. Collect a random urine specimen.

2. No preservative.

Forms

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

1 mL

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

  All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

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 Refrigerated (preferred) 28 days
Frozen 28 days

Useful For
Suggests clinical disorders or settings where the test may be helpful

Monitoring effectiveness of treatment in patients with galactosemia

 

Establishing a baseline level prior to initiating treatment for galactosemia

Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test may be used as an aid in the diagnosis of galactosemia.

 

Urinary galactitol is often not affected by acute dietary ingestion of galactose; therefore, it is not a substitute for GAL1P / Galactose-1-Phosphate, Erythrocytes in monitoring diet.

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 4 enzymes catalyzing the conversion of galactose to glucose: galactose-1-phosphate uridyltransferase (GALT), galactokinase , uridine diphosphate galactose-4-epimerase , and galactose mutarotase deficiency . GALT deficiency is the most common cause of galactosemia and is often referred to as classic galactosemia. The complete or near complete deficiency of the GALT enzyme is life threatening. If left untreated, complications include liver failure, sepsis, cognitive and intellectual disabilities, and death.

 

Galactosemia is treated with a galactose-free diet, which allows for rapid recovery from the acute symptoms and a generally good prognosis. Despite adequate treatment from an early age, children with galactosemia remain at increased risk for developmental delays, speech problems, abnormalities of motor function, and female patients 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.

 

Galactose levels may be continuously elevated in individuals affected with galactosemia even with a galactose-restricted diet regimen due to an endogenous production of galactose. The reduction of galactose to galactitol is an alternate pathway of galactose disposition when galactose metabolism is impaired. The excretion of abnormal quantities of galactitol in the urine of patients is characteristic of this disorder, and patients may have abnormal levels of galactitol even with dietary compliance. Daily consumption of galactose may cause urine levels to rise thus providing information on effectiveness of or compliance with treatment, but unlike erythrocyte galactose-1-phosphate and plasma galactose, urine galactitol levels usually do not provide insight into acute and transient effects of galactose intake.

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.

0-11 months: <109 mmol/mol creatinine

1-3 years: <52 mmol/mol creatinine

4-17 years: <16 mmol/mol creatinine

> or =18 years: <13 mmol/mol creatinine

Interpretation
Provides information to assist in interpretation of the test results

The concentration of galactitol is provided along with reference ranges for patients with galactosemia and normal controls.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

Clinical Reference
Recommendations for in-depth reading of a clinical nature

1. Berry GT. Classic galactosemia and clinical variant galactosemia. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews [Internet]. University of Washington, Seattle; 2000. Updated March 11, 2021. Accessed September 23, 2021. Available from: www.ncbi.nlm.nih.gov/books/NBK1518/

2. Walter JH, Fridovich-Keil JL: Galactosemia. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA. eds.  The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019. Accessed September 23, 2021. Available at https://ommbid.mhmedical.com/content.aspx?sectionid=225081023&bookid=2709

3. OMIM entry 618881 Galactose mutarotase deficiency. Johns Hopkins University; 2020. Updated August 20, 2020. Available at https://omim.org/entry/618881

Method Description
Describes how the test is performed and provides a method-specific reference

A total of 200 mcL of urine are spiked with a mixture of labeled internal standards, allowed to equilibrate, and evaporated. The dry residue is derivatized to form trimethylsilyl  esters, then extracted with hexane. Specimens are analyzed by gas chromatography/mass spectrometry, selected ion monitoring using ammonia chemical ionization and a stable isotope dilution method.(Jansen G, Muskiet F, Schierbeek H, et al: Capillary gas chromatography profiling of urinary, plasma, and erythrocyte sugars and polyols as their trimethylsilyl derivatives, preceded by a simple and rapid prepurification method. Clin Chim Acta 1986157:277-294, Marolt G, Kolar M. Analytical Methods for Determination of Phytic Acid and Other Inositol Phosphates: A Review. Molecules. 2020 Dec 31;26(1):174)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

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.

Tuesday

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.

2 to 9 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

3 months

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

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.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their Regional Manager. For assistance, contact Customer Service.

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. This test 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.

82542

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports