Test ID GALZ Galactosemia, GALT Gene, Full Gene Analysis, Varies
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send specimen in original tube.
Specimen Stability Information: Ambient (preferred)/Refrigerated
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. Molecular Genetics: Biochemical Disorders Patient Information (T527) in Special Instructions
Useful For
Identifying variants in individuals who test negative for the common variants and who have a biochemical diagnosis of galactosemia or galactose-1-phosphate uridyltransferase activity levels indicative of carrier status
Genetics Test Information
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 1 gene associated with galactosemia: GALT.
Additional first tier testing may be considered/recommended. For more information see Galactosemia Testing Algorithm.
Testing Algorithm
See Galactosemia Testing Algorithm in Special Instructions.
Special Instructions
Method Name
Custom Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing.
Reporting Name
Galactosemia, Full Gene AnalysisSpecimen Type
VariesSpecimen Minimum Volume
See Specimen Required
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Varies | Varies |
Reference Values
An interpretive report will be provided.
Performing Laboratory

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
81406
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
GALZ | Galactosemia, Full Gene Analysis | 76037-1 |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
608596 | Test Description | 62364-5 |
608597 | Specimen | 31208-2 |
608598 | Source | 31208-2 |
608599 | Result Summary | 50397-9 |
608600 | Result | 82939-0 |
608601 | Interpretation | 69047-9 |
608602 | Resources | In Process |
608603 | Additional Information | 48767-8 |
608604 | Method | 85069-3 |
608605 | Genes Analyzed | 48018-6 |
608606 | Disclaimer | 62364-5 |
608607 | Released By | 18771-6 |