Galactosemia Reflex, Blood
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
Testing begins with galactose-1-phosphate uridyltransferase (GALT) enzyme analysis. If GALT is greater than or equal to 24.5 nmol/h/mg of hemoglobin, testing is complete. No molecular test will be performed. If GALT is less than 24.5 nmol/h/mg of hemoglobin, GAL14 / Galactosemia Gene Analysis (14-Mutation Panel) will be performed at an additional charge.
See Galactosemia Testing Algorithm in Special Instructions.
Specimen Type Describes the specimen type needed for testing
Whole Blood EDTA
Specimen Required Defines the optimal specimen. This field describes the type of specimen required to perform the test and the preferred volume to complete testing. The volume allows automated processing, fastest throughput and, when indicated, repeat or reflex testing.
Preferred: Lavender top (EDTA)
Acceptable: Yellow top (ACD)
Specimen Volume: 5 mL
Additional Information: Patient's age is required.
1. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.
2. If not ordering electronically, complete, print, and send a Molecular Genetics Request Form (T245: available from the supply catalog)
Specimen Minimum Volume Defines the amount of specimen required to perform an assay once, including instrument and container dead space. Submitting the minimum specimen volume makes it impossible to repeat the test or perform confirmatory or perform reflex testing. In some situations, a minimum specimen volume may result in a QNS (quantity not sufficient) result, requiring a second specimen to be collected.
Mild OK; Gross reject
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.
|Whole Blood EDTA||Refrigerated (preferred)||28 days|