Sign in →

Test Code GCT Galactosemia Reflex, Blood

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
GAL14 Galactosemia Gene Analysis Yes No

Testing Algorithm

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

 

See Galactosemia Testing Algorithm in Special Instructions.

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 (GALT) deficiency.

 

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

Necessary Information


Patient's age is required.



Specimen Required


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:

Preferred: Lavender top (EDTA)

Acceptable: Yellow top (ACD)

Specimen Volume: 5 mL


Specimen Minimum Volume

2 mL

Specimen Stability Information

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

Reference Values

≥24.5 nmol/h/mg of hemoglobin

Day(s) Performed

Monday, Wednesday, Friday

CPT Code Information

82775

 

81401-GALT (galactose-1-phosphate uridylyltransferase) (eg, galactosemia), common variants (eg, Q188R, S135L, K285N, T138M, L195P, Y209C, IVS2-2A->G, P171S, del5kb, N314D, L218L/N314D, if appropriate

Report Available

4 to 5 days

Reject Due To

Gross hemolysis Reject

Method Name

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

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. If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.