Test Catalog

Test ID: GAL14    
Galactosemia Gene Analysis, 14-Mutation Panel, Varies

Useful For Suggests clinical disorders or settings where the test may be helpful

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

Highlights

Galactose-1-Phosphate Uridyltransferase (GALT) enzyme analysis is recommended as a first-tier test. See GALT/ Galactose-1-Phosphate Uridyltransferase (GALT), Blood for more information

 

This test is recommended for individuals with an enzyme value less than 24.5 nmol/h/mg of hemoglobin.

 

Testing can be used to confirm a diagnosis of or for carrier screening for galactosemia.

 

If results of the GALT enzyme analysis and this test are discordant, then GALTM / GALT Gene, Full Gene Analysis, Varies could be considered.

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

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 Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Multiplex Polymerase Chain Reaction (PCR)-Based Assay Utilizing the Agena Mass ARRAY Platform

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Galactosemia Gene Analysis

Aliases Lists additional common names for a test, as an aid in searching

Galactosemia
GALT
Duarte