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 galactose-1-phosphate 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.
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
Galactosemia
GALT deficiency
GALK deficiency
GALE deficiency
Galactokinase deficiency
Epimerase deficiency
UDP Epimerase deficiency
Specimen Type
Describes the specimen type validated for testing
Urine
Ordering Guidance
To monitor dietary ingestion of galactose, order GAL1P / Galactose-1-Phosphate, Erythrocytes.
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
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
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 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 | 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 galactose-1-phosphate 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. 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, Mirzaa GM, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2000. Updated March 11, 2021. Accessed October 24, 2023. Available at 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 October 24, 2023. 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
4. Pasquali M, Yu C, Coffee B. Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018;20(1):3-11. doi:10.1038/gim.2017.172
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. 1986;157:277-294; Marolt G, Kolar M. Analytical Methods for Determination of Phytic Acid and Other Inositol Phosphates: A Review. Molecules. 2020;26(1):174)
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.
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.
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.
- 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 account representative. 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. 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 |
|---|---|---|
| GATOL | Galactitol, QN, U | 47857-8 |
| 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.
|
|---|---|---|
| 35831 | Galactitol | 47857-8 |
| 35832 | Interpretation (GATOL) | 59462-2 |
| 35833 | Reviewed By | 18771-6 |