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HelpTest Code GALMP Galactosemia, GALT Gene, Variant Panel, Varies
Ordering Guidance
The recommended as a first-tier test is galactose-1-phosphate uridyltransferase enzyme analysis; order GALT / Galactose-1-Phosphate Uridyltransferase, Blood.
This genetic variant panel is recommended for individuals with a GALT enzyme value less than 24.5 nmol/h/mg of hemoglobin.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Specimen Required
Multiple whole blood tests for galactosemia can be performed on one specimen. Prioritize order of testing when submitting specimens. See Galactosemia-Related Test List for a list of tests that can be ordered together.
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 whole blood specimen in original tube. Do not aliquot.
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:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Molecular Genetics: Biochemical Disorders Patient Information (T527)
Useful For
Second-tier test for confirming a diagnosis of galactosemia as indicated by enzymatic testing or newborn screening
Carrier testing family members of an affected individual of known genotype (has variants included in the panel)
Resolution of Duarte variant and Los Angeles (LA) variant genotypes
Testing Algorithm
For more information see Galactosemia Testing Algorithm
Special Instructions
Method Name
Targeted Genotyping Array
Reporting Name
Galactosemia Mutation PanelSpecimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Ambient (preferred) | ||
| Frozen | |||
| Refrigerated | |||
Reference Values
An interpretive report will be provided.
Day(s) Performed
Thursday, Sunday
Report Available
7 to 21 daysPerforming 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. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81401
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| GALMP | Galactosemia Mutation Panel | 42318-6 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 606344 | Result Summary | 50397-9 |
| 606345 | Result | 82939-0 |
| 606346 | Interpretation | 69047-9 |
| 606347 | Additional Information | 48767-8 |
| 606348 | Method | 85069-3 |
| 606349 | Specimen | 31208-2 |
| 606350 | Source | 31208-2 |
| 606351 | Released By | 18771-6 |