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Test Catalog

Test ID: GAL6    
Galactosemia Gene Analysis (6-Mutation Panel)

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


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 LA variant genotypes

Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request

GALT (galactose-1-phosphate uridyltransferase) enzyme analysis (GALT / Galactose-1-Phosphate Uridyltransferase (GALT), Blood) is recommended prior to gene analysis. See GCT / Galactosemia Reflex, Blood for comprehensive diagnostic and carrier testing.

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

See Galactosemia Testing Algorithm in Special Instructions.

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

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

A real-time polymerase chain reaction (PCR)-based assay is utilized to examine DNA for 6 alterations: Q188R, S135L, L195P, K285N, N314D (Duarte), and L218L (Los Angeles).

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

Galactosemia Gene Analysis

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