Test Catalog

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Test ID: GALTZ    
GALT Gene, Full Gene Analysis

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 genetic 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 GAL14 / Galactosemia Gene Analysis (14-Mutation Panel) is negative or uninformative.

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

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

Polymerase chain reaction (PCR) amplification/DNA sequencing

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

GALT Gene, Full Gene Analysis

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

GALT
GALTM
Galactosemia