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.
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/8333) is recommended prior to gene analysis. See GCT/84360 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
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