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Test Code GCT Galactosemia Reflex, Blood

Reporting Name

Galactosemia Reflex, B

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

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, GAL14 / Galactosemia Gene Analysis (14-Mutation Panel) will be performed at an additional charge.

 

See Galactosemia Testing Algorithm in Special Instructions.

Performing Laboratory

Mayo Medical Laboratories in Rochester

Specimen Type

Whole Blood EDTA


Specimen Required


Container/Tube: 

Preferred: Lavender top (EDTA)

Acceptable: Yellow top (ACD)

Specimen Volume: 5 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

≥24.5 nmol/h/mg of hemoglobin

Day(s) and Time(s) Performed

Monday, Wednesday, Friday; 7 a.m. set up (specimen must arrive the day prior)

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 (GALT), Blood

82775

 

Galactosemia Gene Analysis (14-Mutation Panel)

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

LOINC Code Information

Test ID Test Order Name Order LOINC Value
GCT Galactosemia Reflex, B In Process

 

Result ID Test Result Name Result LOINC Value
8333 Gal-1-P Uridyltransferase, RBC 24082-0
2296 Interpretation (GALT) 59462-2
58115 Reviewed By No LOINC Needed

Method Name

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.