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HelpTest Code MISC2MAYOGAL14 Galactosemia Gene Analysis, 14-Mutation Panel, Varies
Useful For
Second-tier test for confirming a diagnosis of galactosemia (indicated by enzymatic testing or newborn screening)
Carrier testing family members of an affected individual of known genotype (has mutations included in the panel)
Resolution of Duarte variant and Los Angeles (LA) variant genotypes
Testing Algorithm
Tests for the presence of the following 14 mutations in the GALT gene: -119_-116delGTCA, D98N, S135L, T138M, M142K, F171S, Q188R, L195P, Y209C, K285N, N314D, Q344K, c.253-2A>G, and 5 kb deletion.
See Galactosemia Testing Algorithm in Special Instructions.
Special Instructions
- Molecular Genetics: Congenital Inherited Diseases Patient Information
- Informed Consent for Genetic Testing
- Galactosemia Testing Algorithm
- Blood Spot Collection Card-Spanish Instructions
- Blood Spot Collection Card-Chinese Instructions
- Informed Consent for Genetic Testing (Spanish)
- Galactosemia-Related Test List
- Blood Spot Collection Instructions
Method Name
Multiplex Polymerase Chain Reaction (PCR)-Based Assay Utilizing the Agena Mass ARRAY Platform
Reporting Name
Galactosemia Gene AnalysisSpecimen Type
VariesShipping Instructions
Specimen preferred to arrive within 96 hours of draw.
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.
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.
Submit only 1 of the following specimens:
Preferred:
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)/Frozen/Refrigerated
Acceptable:
Specimen Type: Blood spot
Supplies: Card - Blood Spot Collection (Filter Paper) (T493)
Container/Tube:
Preferred: Collection card (Whatman Protein Saver 903 Paper)
Acceptable: Ahlstrom 226 filter paper or Blood Spot Collection Card
Specimen Volume: 2 to 5 Blood spots
Collection Instructions:
1. An alternative blood collection option for a patient >1 year of age is finger stick.
2. Let blood dry on the filter paper at ambient temperature in a horizontal position for 3 hours.
3. Do not expose specimen to heat or direct sunlight.
4. Do not stack wet specimens.
5. Keep specimen dry.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Additional Information:
1. For collection instructions, see Blood Spot Collection Instructions in Special Instructions.
2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777) in Special Instructions.
3. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800) in Special Instructions.
Specimen Minimum Volume
Blood: 1 mL
Blood Spots: 3
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Ambient (preferred) | ||
| Frozen | |||
| Refrigerated | |||
Reject Due To
All specimens will be evaluated by Mayo Clinic Laboratories for test suitability.Reference Values
An interpretive report will be provided.
Day(s) and Time(s) Performed
Monday through Friday, Varies
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 U.S. Food and Drug Administration.CPT Code Information
81401-GALT (galactose-I-phosphate uridylyltransferase) (eg, galactosemia), full gene sequence
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| GAL14 | Galactosemia Gene Analysis | 42318-6 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 52878 | Result Summary | 50397-9 |
| 52879 | Result | 82939-0 |
| 52880 | Interpretation | 69047-9 |
| 52881 | Specimen | 31208-2 |
| 52882 | Source | 31208-2 |
| 52883 | Method | 49549-9 |
| 52884 | Released By | 18771-6 |
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: Congenital Inherited Diseases Patient Information (T521) in Special Instructions
3. If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.