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Test Code GCT Galactosemia Reflex, Blood

Reporting Name

Galactosemia Reflex, B

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Useful For

Preferred test for diagnosis, carrier detection, and determination of genotype of galactose-1-phosphate uridyltransferase deficiency, the most common cause of galactosemia

 

Differentiating Duarte variant galactosemia from classic galactosemia

 

Confirming results of newborn screening programs

Method Name

Enzyme Reaction followed by Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)


Ordering Guidance


This test is appropriate for the diagnosis of, and routine carrier screening for, galactose-1-phosphate uridyltransferase deficiency.

 

This assay is not appropriate for monitoring dietary compliance. For dietary monitoring, order GAL1P / Galactose-1-Phosphate, Erythrocytes.



Necessary Information


Patient's age is required.



Specimen Required


Multiple whole blood tests for galactosemia can be performed on one specimen. Prioritize order of testing when submitting specimens. For a list of tests that can be ordered together, see Galactosemia-Related Test List.

 

Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Green top (sodium heparin) or yellow top (ACD)

Specimen Volume: 5 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.


Specimen Type

Whole Blood EDTA

Specimen Minimum Volume

2 mL

Specimen Stability Information

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

Reject Due To

Gross hemolysis Reject

Reference Values

≥24.5 nmol/h/mg of hemoglobin

Interpretation

The laboratory provides an interpretation of the results, including galactose-1-phosphate uridyltransferase enzyme activity and genotype, if necessary. This interpretation provides an overview of the results and their significance, a correlation to available clinical information, elements of differential diagnosis, and recommendations for additional testing.

 

In any specimen where enzyme activity is less than 24.5 nmol/h/mg of hemoglobin GALT full gene sequencing will be performed. For testing algorithm and more information, see Galactosemia Testing Algorithm.

 

The GALT gene maps to chromosome 9p13. Several disease-causing variants are common in patients with classic galactosemia (G/G genotype). The most frequently observed is the Q188R classic variant. This alteration accounts for 60% to 70% of classic galactosemia alleles. The S135L variant is the most frequently observed in African Americans and accounts for approximately 50% of the altered alleles in this population. The K285N variant is common in those of eastern European descent and accounts for 25% to 40% of the alleles in this population. The L195P variant is observed in 5% to 7% of classical galactosemia. The 5-kilobase deletion is common in individuals of Ashkenazi Jewish descent. The Duarte variant (N314D and -119_-116delGTCA) is observed in 5% of the general US population.

Day(s) Performed

Monday, Wednesday, Friday

Report Available

4 to 7 days

Test Classification

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

82775

81406 (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
GCT Galactosemia Reflex, B 24082-0

 

Result ID Test Result Name Result LOINC Value
8333 Gal-1-P Uridyltransferase, RBC 24082-0
2296 Interpretation (GALT) 59462-2
58115 Reviewed By 18771-6

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:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. If not ordering electronically, complete, print, and send an Biochemical Genetics Test Request (T798) with the specimen.

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
GALZ Galactosemia, Full Gene Analysis Yes No

Testing Algorithm

Testing begins with galactose-1-phosphate uridyltransferase (GALT) enzyme analysis. If GALT activity is greater than or equal to 24.5 nmol/h/mg of hemoglobin, testing is complete. No molecular test will be performed. If GALT activity is less than 24.5 nmol/h/mg of hemoglobin, galactosemia full gene sequencing will be performed at an additional charge.

 

For more information see Galactosemia Testing Algorithm