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Test ID: GALTP Galactose-1-Phosphate Uridyltransferase Biochemical Phenotyping, Erythrocytes

Reporting Name

Gal-1-Phos Urdyltrns Phenotype,RBC

Useful For

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

 

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

Additional Tests

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

Testing Algorithm

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

 

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

 

For monitoring of dietary compliance, see GAL1P / Galactose-1-Phosphate (Gal-1-P), Erythrocytes.

 

See Galactosemia Testing Algorithm in Special Instructions.

Specimen Type

Whole Blood EDTA


Specimen Required


Container/Tube: Lavender top (EDTA)

Specimen Volume: 3 mL

Additional Information: Patient's age is required.


Specimen Minimum Volume

2 mL

Specimen Stability Information

Specimen Type Temperature Time
Whole Blood EDTA Refrigerated (preferred) 28 days
  Ambient  14 days

Reference Values

Descriptive report

Day(s) and Time(s) Performed

Thursday; 9 a.m.

Test Classification

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

Galactose-1-Phosphate Uridyltransferase Biochemical Phenotyping, Erythrocytes

82664

 

Galactose-1-Phosphate Uridyltransferase (GALT), Blood

82775

LOINC Code Information

Test ID Test Order Name Order LOINC Value
GALTP Gal-1-Phos Urdyltrns Phenotype,RBC In Process

 

Result ID Test Result Name Result LOINC Value
80341 Gal-1-Phos Urdyltrns Phenotype,RBC 33780-8
34524 Reviewed By No LOINC Needed

Clinical Information

Galactosemia is an autosomal recessive disorder that results from a deficiency of any 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.

 

Duarte-variant galactosemia (compound heterozygosity for the Duarte mutation, N314D, and a classic mutation) is generally associated with higher levels of enzyme activity (5%-20%) than classic galactosemia (<5%); however, this may be indistinguishable by newborn screening assays. Typically, individuals with Duarte-variant galactosemia have a milder phenotype, but are also often treated with a low galactose diet during infancy. The LA variant, which consists of N314D and a second mutation, 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 mutations is typically performed to determine the specific genotype. If the enzymatic and molecular results are incongruent, biochemical phenotyping and/or molecular sequence analysis 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.

Interpretation

An interpretive report will be provided.

 

See Galactosemia Testing Algorithm in Special Instructions for additional information.

Clinical Reference

1. Berry GT. Classic Galactosemia and Clinical Variant Galactosemia. In GeneReviews. Edited by Pagon RA, Adam MP, Ardinger HH, et al. Available at http://www.ncbi.nlm.nih.gov/books/NBK1518/. Retrieved 03/11/2015

2. Walter JH, Fridovich-Keil JL: Galactosemia. In The Metabolic and Molecular Bases of Inherited Disease. Edited by Valle D, Beaudet AL, Vogelstein B, et al. New York, McGraw-Hill, 2014. Accessed January 26, 2016. Available at http://ommbid.mhmedical.com/content.aspx?bookid=971&Sectionid=62672411

Analytic Time

8 days

Method Name

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

Forms

New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.

Mayo Medical Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

mml-biochemical