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Test Code GCT Galactosemia Reflex, Blood

Reflex Tests

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

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Whole Blood EDTA


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.



Shipping Instructions


Pre-analytical processing is performed Monday through Friday and Sunday. This test may be canceled if specimens are outside of stability when processing occurs. Collect and package specimens for arrival on days when processing is performed.



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 Minimum Volume

2 mL

Specimen Stability Information

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

Reference Values

≥24.5 nmol/h/mg of hemoglobin

Day(s) Performed

Preanalytical processing: Monday through Friday, Sunday

Assay performed: Monday, Wednesday, Friday

CPT Code Information

82775

81406 (if appropriate)

Genetics Test Information

Preferred test to evaluate for possible diagnosis of galactosemia, routine carrier screening, and follow-up of abnormal newborn screening results. Comprehensive reflex test begins with quantitative galactose-1-phosphate uridyltransferase (GALT) enzyme analysis. If quantitative GALT enzyme value is less than 24.5 nmol/h/mg of hemoglobin, full gene sequencing of the GALT gene is performed.

Report Available

4 to 7 days

Specimen Retention Time

2 months

Reject Due To

Gross hemolysis Reject