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Test Catalog

Test ID: GALTM    
GALT Gene, Full Gene Analysis

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

Identifying mutations in individuals who test negative for the common mutations and who have a biochemical diagnosis of galactosemia or galactose-1-phosphate uridyltransferase activity levels indicative of carrier status

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

Not the preferred first-tier molecular test for carrier screening or diagnosis. Used to identify mutations in individuals with a clinical diagnosis of galactosemia when GAL6 / Galactosemia Gene Analysis (6-Mutation Panel) is negative or uninformative.

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

Polymerase chain reaction (PCR) amplification/DNA sequencing is utilized to test for the presence of a mutation in all 11 exons of the GALT gene.
(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

GALT Gene, Full Gene Analysis

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