Test Catalog

Test Id : GALTP

Galactose-1-Phosphate Uridyltransferase Biochemical Phenotyping, Erythrocytes

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

Determining the biochemical phenotype for galactosemia when enzymatic and molecular results are incongruent

Additional Tests
Lists tests that are always performed, at an additional charge, with the initial tests.

Test Id Reporting Name Available Separately Always Performed
GALT Gal-1-P Uridyltransferase, RBC Yes Yes

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

A quantitative galactose-1-phosphate uridyltransferase (GALT) level is used in addition to the isoelectric focusing for accurate interpretation. If recent GALT test results are not provided, GALT testing will be automatically performed at an additional charge. However, if previous GALT results are provided, GALT testing will be cancelled and not charged.

 

See Galactosemia Testing Algorithm in Special Instructions.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Name
A short description of the method used to perform the test

GALTP: Isoelectric Focusing
GALT: Enzyme Reaction followed by Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/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

Gal-1-Phos Urdyltrns Phenotype,RBC

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

Biochemical Phenotype

Erythrocyte Galactose-1-Phosphate Uridyltransferase (GALT) Phenotyping

Galactose-1-Phosphate Uridyltransferase Isoenzymes/Isoelectric Focusing

Galactosemia

GALT Phenotype

GPUT (Galactose-1-Phosphate Uridyltransferase) Phenotyping

RBC (Red Blood Cell), Galactose-1-Phosphate Uridyltransferase Phenotyping

Galactose-1-Phosphate Uridyltransferase (GALT)

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

A quantitative galactose-1-phosphate uridyltransferase (GALT) level is used in addition to the isoelectric focusing for accurate interpretation. If recent GALT test results are not provided, GALT testing will be automatically performed at an additional charge. However, if previous GALT results are provided, GALT testing will be cancelled and not charged.

 

See Galactosemia Testing Algorithm in Special Instructions.

Specimen Type
Describes the specimen type validated for testing

Whole Blood EDTA

Ordering Guidance

The preferred test to evaluate for possible diagnosis of galactosemia, routine carrier screening, and follow-up of abnormal newborn screening results is GCT / Galactosemia Reflex, Blood.

 

For monitoring of dietary compliance, order GAL1P / Galactose-1-Phosphate, Erythrocytes.

Necessary Information

Patient's age is required.

 

A quantitative galactose-1-phosphate uridyltransferase level (GALT / Galactose-1-Phosphate Uridyltransferase, Blood) is required for accurate interpretation.

 

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

Multiple whole blood tests for galactosemia can be performed on 1 specimen. Prioritize order of testing when submitting specimens. See Galactosemia-Related Test List in Special Instructions for a list of tests that can be ordered together.

 

Container/Tube: Lavender top (EDTA)

Specimen Volume: 3 mL

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Biochemical Genetics Patient Information (T602) is recommended, see Special Instructions.

3. 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

2 mL

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

Gross hemolysis Reject

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
Whole Blood EDTA Refrigerated (preferred) 28 days
Ambient 14 days

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

Determining the biochemical phenotype for galactosemia when enzymatic and molecular results are incongruent

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

A quantitative galactose-1-phosphate uridyltransferase (GALT) level is used in addition to the isoelectric focusing for accurate interpretation. If recent GALT test results are not provided, GALT testing will be automatically performed at an additional charge. However, if previous GALT results are provided, GALT testing will be cancelled and not charged.

 

See Galactosemia Testing Algorithm in Special Instructions.

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 any 1 of the 4 enzymes catalyzing the conversion of galactose to glucose: galactose-1-phosphate uridyltransferase (GALT), galactokinase (GALK), uridine diphosphate galactose-4-epimerase (GALE), and galactose mutarotase (GALM). 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.

 

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. Female patients 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.

 

Duarte-variant galactosemia (compound heterozygosity for the Duarte variant, N314D and a classic variant) is generally associated with higher levels of enzyme activity (5%-20%) than classic galactosemia (<5%); however, this may be indistinguishable by newborn screening assays. Previously, it was unknown whether children with Duarte-variant galactosemia were at an increased risk for adverse developmental outcomes due to milk exposure and were often treated with a low galactose diet during infancy. More recently, the outcomes data suggest a lack of evidence for developmental complications due to milk exposure, therefore treatment recommendations remain controversial. The Los Angeles variant, which consists of N314D and a second variant, L218L, is associated with higher levels of GALT enzyme activity than the Duarte-variant allele.

 

In general, molecular genetic analysis with a panel of common variants (GALMP / Galactosemia, GALT Gene, Variant Panel, Varies (24 variant panel) is typically performed to determine the specific genotype. If the enzymatic and molecular results are incongruent, biochemical phenotyping and/or molecular sequence analysis (GALZ / Galactosemia, GALT Gene, Full Gene Analysis, Varies) may be beneficial to help clarify results to determine a treatment strategy and recurrence risks.

 

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.

An interpretative report will be provided.

Interpretation
Provides information to assist in interpretation of the test results

An interpretive report will be provided.

 

See Galactosemia Testing Algorithm in Special Instructions for additional information.

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

A more comprehensive interpretation can be provided when parental specimens are also submitted for testing.

 

The results of testing performed in erythrocytes, including analysis of enzymes, biochemical phenotyping, or galactose-1-phosphate are invalid following a transfusion.

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 9, 2017. Accessed May 3, 2021. Available at www.ncbi.nlm.nih.gov/books/NBK1518/

2. Walter JH, Fridovich-Keil JL: Galactosemia. In: Valle D, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA. eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019. Accessed May 3, 2021. Available at https://ommbid.mhmedical.com/content.aspx?bookid=2709&sectionid=%20225081023

3. Carlock G, Fischer ST, Lynch ME, et al: Developmental outcomes in Duarte galactosemia. Pediatrics. 2019 Jan;143(1):e20182516. doi: 10.1542/peds.2018-2516

4. Anderson S: GALT deficiency galactosemia. MCN Am J Matern Child Nurs. 2018 Jan/Feb;43(1):44-51. doi: 10.1097/NMC.0000000000000388

Special Instructions
Library of PDFs including pertinent information and forms related to the test

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

Isoelectric focusing is used to resolve the isoenzymes of galactose-1-phosphate uridyltransferase (GALT). The band patterns, when used in conjunction with a quantitative GALT result, can be used to predict the GALT phenotype of an individual.

 

In isoelectric focusing, a pH gradient is established across an agarose gel by adding a select mixture of amphoteric molecules to the gel and applying an electric field to the gel. Each protein (isoenzyme) has its own unique isoelectric point, a pH at which the net charge of the protein is equal to zero. Therefore, if a protein is applied to the gel, it will migrate through the pH gradient in the gel until it reaches its isoelectric point. There the protein will stop and "focus" into distinct bands.

 

In this procedure, a red blood cell hemolysate is focused on a 5% agarose gel containing ampholytes of a 5 to 7 pH range. The isoenzyme bands are then visualized by applying a substrate mixture that results in a series of reactions (shown below). The final product, reduced nicotinamide adenine dinucleotide phosphate (NADPH), is stained a blue-violet color when it reacts with phenazine methosulfate and 3-(4-5 dimethylthiazol-2-yl) I-2,5-diphenyltetrazolium bromide.(Shin YS, Niedermeier HP, Endres W, et al: Agarose gel isoelectrofocusing of UDP-galactose pyrophosphorylase and galactose-1-phosphate uridyltransferase: developmental aspect of UDP-galactose pyrophosphorylase. Clin Chim Acta 1987;166:27-35, modified to acrylamide as described by Leclerc P, Forest JC: Electrophoretic determination of isoamylases in serum with commercially available reagents. Clin Chem 1982;28:37-40; Cowan T, Pasquali M: Laboratory investigations of inborn errors of metabolism. In: Sarafoglou K, Hoffman GF, Roth KS, eds. Pediatric Endocrinology and Inborn Errors of Metabolism. 2nd ed. McGraw-Hill; 2017:1139-1158).

 

 

GALT

 

Gal-1-P + UDP-Glu

------------->

UDP-Gal + Glu-1-P

 

Phosphoglucomutase

 

Glu-1-P + Glu-1-6 diP

------------->

Glu-1-6 diP + Glu-6-P

 

Glu-6-P-Dehydrogenase

 

Glu-6-P + NADP

------------->

Ribose-5-P + CO2 + NADPH

NADPH + MTT + PMS

------------->

Blue Violet Stain

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.

Thursday

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.

8 to 15 days

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

Processed RBC: 2 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.

82664

82775

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