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HelpTest Code GALMP Galactosemia, GALT Gene, Variant Panel, Varies
Ordering Guidance
The recommended first-tier test is galactose-1-phosphate uridyltransferase (GALT) 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 Required
Patient Preparation: A previous hematopoietic stem cell transplant from an allogenic donor will interfere with testing. For information about testing patients who have received a hematopoietic stem cell transplant, call 800-533-1710.
Submit only 1 of the following specimens:
Specimen Type: Whole blood
Container/Tube: Lavender top (EDTA) or yellow top (ACD)
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
3. Whole blood collected postnatal from an umbilical cord is also acceptable. See Additional Information
Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated 4 days/Frozen 4 days
Additional Information:
1. Specimens are preferred to be received within 4 days of collection. Extraction will be attempted for specimens received after 4 days, and DNA yield will be evaluated to determine if testing may proceed.
2. To ensure minimum volume and concentration of DNA are met, the requested volume must be submitted. Testing may be canceled if DNA requirements are inadequate.
3. For postnatal umbilical cord whole blood specimens, maternal cell contamination studies are recommended to ensure test results reflect that of the patient tested. A maternal blood specimen is required to complete maternal cell contamination studies. Order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on both the cord blood and maternal blood specimens under separate order numbers.
Specimen Type: Extracted DNA
Container/Tube:
Preferred: Screw Cap Micro Tube, 2 mL with skirted conical base
Acceptable: Matrix tube, 1 mL
Collection Instructions:
1. The preferred volume is at least 100 mcL at a concentration of 75 ng/mcL.
2. Include concentration and volume on tube.
Specimen Stability Information: Frozen (preferred) 1 year/Ambient/Refrigerated
Additional Information: DNA must be extracted in a CLIA-certified laboratory or equivalent and must be extracted from a specimen type listed as acceptable for this test (including applicable anticoagulants). Our laboratory has experience with Chemagic, Puregene, Autopure, MagnaPure, and EZ1 extraction platforms and cannot guarantee that all extraction methods are compatible with this test. If testing fails, one repeat will be attempted, and if unsuccessful, the test will be reported as failed and a charge will be applied. If applicable, specific gene regions that were unable to be interrogated due to DNA quality will be noted in the report.
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)
Secondary ID
606343Useful 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
Highlights
A targeted genotyping array is utilized to detect 24 genetic targets associated with galactosemia for the purpose of diagnostic testing or carrier screening.
Disease States
- Galactosemia
Testing Algorithm
For cord blood specimens that have an accompanying maternal blood specimen, maternal cell contamination studies will be performed at an additional charge.
For more information see Galactosemia Testing Algorithm
Special Instructions
Method Name
Targeted Genotyping Array followed by Multiplex Ligation-Dependent Probe Amplification (MLPA), Polymerase Chain Reaction (PCR), Relative Quantitative PCR (qPCR), or Sanger Sequencing, as needed
Reporting Name
Galactosemia Mutation PanelSpecimen Type
VariesSpecimen Minimum Volume
See Specimen Required
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Varies | Varies | |
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Clinical Information
Galactosemia is an autosomal recessive disorder that results from a deficiency of any 1 of the 4 enzymes catalyzing the conversion of galactose to glucose: galactose-1-phosphate uridyltransferase (GALT), galactokinase (GALK), uridine diphosphate galactose-4-epimerase (GALE), and galactose mutarotase (GALM). GALT deficiency is the most common cause of galactosemia and is often referred to as classic galactosemia. Classic galactosemia is caused by pathogenic variants in the GALT gene. The complete or near-complete deficiency of GALT enzyme is life threatening if left untreated. Complications in the neonatal period include failure to thrive, liver failure, sepsis, and death.(1)
Galactosemia is treated by a galactose-restricted diet, which allows for rapid recovery from the acute symptoms and a generally good prognosis.(2) Despite adequate treatment from an early age, individuals with galactosemia remain at increased risk for developmental delays, speech problems, and abnormalities of motor function. Female individuals with galactosemia are at increased risk for premature ovarian failure. Based upon reports by newborn screening programs, the frequency of classic galactosemia in the United States is approximately 1 in 30,000, although literature reports range from 1 in 10,000 to 1 in 60,000 live births.
Duarte-variant galactosemia (compound heterozygosity for the c.-119_-116del/c.940A>G (p.N314D) variants in addition to a classic variant) is generally associated with higher levels of enzyme activity (5%-20%) than classic galactosemia (<5%); however, this may be indistinguishable by newborn screening assays.(3) Previously, it was unknown whether children with Duarte-variant galactosemia were at an increased risk for adverse developmental outcomes due to milk exposure and were often treated with a low galactose diet during infancy. More recently, the outcomes data suggest a lack of evidence for developmental complications due to milk exposure, therefore treatment recommendations remain controversial.(2,4) The Duarte variant, c.-119_-116del/c.940A>G (p.N314D), is found in 5% of the general United States population. The Los Angeles variant, which consists of p.N314D and a second variant, p.L218L, is associated with higher levels of GALT enzyme activity than the Duarte-variant allele.
Newborn screening for galactosemia is performed in all 50 US states, though the method by which potentially affected individuals are detected varies from state to state and may include the measurement of total galactose (galactose and galactose-1-phosphate) or determining the activity of the GALT enzyme. The diagnosis of galactosemia is established by follow-up quantitative measurement of GALT enzyme activity. If enzyme levels are indicative of carrier or affected status, molecular testing for common GALT variants may be performed. If one or both disease-causing variants are not detected by targeted variant analysis and biochemical testing has confirmed the diagnosis of galactosemia, sequencing of the GALT gene (GALZ / Galactosemia, GALT Gene, Full Gene Analysis, Varies) is available to identify additional variants.
For more information see Galactosemia Testing Algorithm.
Table. Targeted Variants
|
Associated phenotype |
Gene (transcript) |
Variants |
|
Galactosemia |
GALT (NM_000155) |
c.-119_-116del*, c.136_140del, c.221T>C*, c.253-2A>G*, c.292G>A*, c.404C>T*, c.413C>T*, c.425T>A*, c.443G>A*, c.505C>A, c.512T>C*, c.563A>G*, c.584T>C*, c.607G>A*, c.626A>G*, c.855G>T*, c.940A>G*, c.958G>A*, c.997C>G*, c.997C>T*, c.1018G>T, c.1030C>A*, c.1138T>C* Deletion analysis of exon 1-11 |
*Previously detected in a known positive sample
Reference Values
An interpretive report will be provided.
Interpretation
The interpretive report includes an overview of the findings as well as the associated clinical significance.
Results should be interpreted in the context of biochemical results.
If results of the galactose-1-phosphate uridyltransferase enzyme analysis and this test are discordant, then consider GALZ / Galactosemia, GALT Gene, Full Gene Analysis, Varies.
Cautions
This assay will not detect all of the known disease-associated variants that cause galactosemia. Therefore, the absence of a detectable variant does not rule out the possibility that an individual is a carrier of or affected with this disease.
Many disorders may present with symptoms similar to those associated with galactosemia. Therefore, biochemical testing is recommended to establish the diagnosis of galactosemia prior to DNA analysis.
A negative result does not eliminate the risk of carrier status for any of the included conditions, due to the possibility that the patient carries a variant that is not interrogated with this assay or the rare chance of a false-negative result for a tested variant. For tested variants, the negative predictive value of this screen is greater than 98%. The patient's residual risk to be a carrier after a negative screen is dependent on ethnic background and family history.
A positive control was not available for all variants targeted on this panel. For more information regarding availability of a positive control for each variant see the Table (Targeted Variants) in Clinical Information. The negative predictive value of these targets is unknown.
Rare variants (ie, polymorphisms) exist that could lead to false-negative or false-positive results. If results obtained do not match the clinical findings, additional testing should be considered.
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(5) This assay was designed to specifically target known pathogenic or likely pathogenic variants. In rare cases, DNA variants of undetermined significance may be identified. The laboratory encourages health care providers to contact the laboratory at any time to learn how the status of a particular variant may have changed over time.
Multiple in-silico evaluation tools may have been used to assist in the interpretation of these results. Of note, the sensitivity and specificity of these tools for the determination of pathogenicity is currently unvalidated.
Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Misinterpretation of results may occur if the information provided is inaccurate or incomplete.
Bone marrow transplants from allogenic donors will interfere with testing. Call Mayo Clinic Laboratories for instructions for testing patients who have received a bone marrow transplant.
An online research opportunity called GenomeConnect (genomeconnect.org), a project of ClinGen, is available for the recipient of this genetic test. This patient registry collects deidentified genetic and health information to advance the knowledge of genetic variants. Mayo Clinic is a collaborator of ClinGen. This may not be applicable for all tests.
Clinical Reference
1. Berry GT. Classic galactosemia and clinical variant galactosemia. In: Adam MP, Bick S, Mirzaa GM, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2000. Updated March 11, 2021. Accessed November 6, 2025. Available at www.ncbi.nlm.nih.gov/books/NBK1518/
2. Welling L, Bernstein LE, Berry GT, et al. International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. J Inherit Metab Dis. 2017;40(2):171-176. doi:10.1007/s10545-016-9990-5
3. Fridovich-Keil JL, Gambello MJ, Singh RH, Sharer JD. Duarte variant galactosemia. In: Adam MP, Bick S, Mirzaa GM, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2014. Updated June 25, 2020. Accessed November 6, 2025. Available at www.ncbi.nlm.nih.gov/books/NBK258640/
4. Carlock G, Fischer ST, Lynch ME, et al. Developmental outcomes in Duarte galactosemia. Pediatrics. 2019;143(1):e20182516. doi:10.1542/peds.2018-2516
5. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424. doi:10.1038/gim.2015.30
6. Elsas LJ 2nd, Lai K. The molecular biology of galactosemia. Genet Med. 1998;1(1):40-48. doi:10.1097/00125817-199811000-00009
7. Kaye CI; Committee on Genetics, Accurso F, et al. Newborn screening fact sheets. Pediatrics. 2006;118(3):e934-e963. doi:10.1542/peds.2006-1783
8. Novelli G, Reichardt JK. Molecular basis of disorders of human galactose metabolism: past, present, and future. Mol Genet Metab. 2000;71(1-2):62-65. doi:10.1006/mgme.2000.3073
9. Succoio M, Sacchettini R, Rossi A, Parenti G, Ruoppolo M. Galactosemia: Biochemistry, molecular genetics, newborn screening, and treatment. Biomolecules. 2022;12(7):968
Method Description
The targeted genotyping assay utilizing the ThermoFisher GeneTitan platform is used to detect 24 targets in the GALT gene. Confirmatory testing of homozygous results is performed as reflex tests when appropriate. For details regarding the targeted disease-causing variants identified by this test, see the Targeted Variants table in Clinical Information.
Multiplex ligation-dependent probe amplification, polymerase chain reaction (PCR), relative quantitative PCR, and Sanger sequencing are used to confirm variants detected by array when appropriate.(Unpublished Mayo method)
Day(s) Performed
Varies
Report Available
7 to 21 daysSpecimen Retention Time
Whole Blood: 28 days (if available); Extracted DNA: 3 monthsPerforming 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 |
Reflex Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| MATCC | Maternal Cell Contamination, B | Yes | No |