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Test 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

Method Name

Targeted Genotyping Array

Reporting Name

Galactosemia Mutation Panel

Specimen Type

Varies

Specimen 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.

Interpretation

An interpretative report will be provided.

 

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.

Clinical Reference

1. 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 May;17(5):405-424. doi: 10.1038/gim.2015.30

2. Elsas LJ 2nd, Lai K: The molecular biology of galactosemia. Genet Med. 1998 Nov-Dec;1(1):40-48. doi: 10.1097/00125817-199811000-00009

3. Kaye CI, Committee on Genetics, Accurso F, et al: Newborn screening fact sheets. Pediatrics. 2006 Sep;118(3):e934-e963. doi: 10.1542/peds.2006-1783

4. Novelli G, Reichardt JK: Molecular basis of disorders of human galactose metabolism: past, present, and future. Mol Genet Metab. 2000 Sep-Oct;71(1-2):62-65. doi: 10.1006/mgme.2000.3073

5. 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 Mar;40(2):171-176. doi: 10.1007/s10545-016-9990-5

6. Carlock G, Fischer ST, Lynch ME, et al: Developmental outcomes in Duarte galactosemia. Pediatrics. 2019 Jan;143(1):e20182516. doi: 10.1542/peds.2018-2516

Day(s) Performed

Thursday, Sunday

Report Available

7 to 21 days

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. 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