Referred Tests
| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing. | |
Test ID: GALTZ
GALT Gene, Full Gene Analysis, Varies
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
- Molecular Genetics: Congenital Inherited Diseases Patient Information
- Informed Consent for Genetic Testing
- Galactosemia Testing Algorithm
- Blood Spot Collection Card-Spanish Instructions
- Blood Spot Collection Card-Chinese Instructions
- Informed Consent for Genetic Testing (Spanish)
- Galactosemia-Related Test List
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
GALTM
Galactosemia