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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


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


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.


Identification of a pathogenic variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for galactosemia.


Additional first tier testing may be considered/recommended. For more information see Galactosemia Testing Algorithm.

Disease States

  • Galactosemia

Testing Algorithm

See Galactosemia Testing Algorithm in 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 Analysis

Specimen Type


Specimen 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

Mayo Clinic Laboratories in Rochester

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 US Food and Drug Administration.

CPT Code Information


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 99622-3
608603 Additional Information 48767-8
608604 Method 85069-3
608605 Genes Analyzed 48018-6
608606 Disclaimer 62364-5
608607 Released By 18771-6

NY State Approved


Day(s) Performed


Report Available

3 to 4 weeks