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Geisinger Medical Laboratories/Geisinger Proven Diagnostics Test Catalog
GAL-1-P (GALT) |
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ORDERING INFORMATION: |
Geisinger Epic Procedure Code: LAB3786 Geisinger Epic ID: 143076 | |
SPECIMEN COLLECTION |
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Specimen type: |
Whole blood | |
Preferred collection container: |
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Alternate Collection Container: |
4 mL green/green-top (sodium heparin) tube
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Specimen required: |
5 mL whole blood; minimum 2 mL. | |
Special notes: |
Patient's age is required. | |
| SPECIMEN PROCESSING |
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Transport temperature: |
Refrigerated (cold packs). | |
Specimen stability: |
Room temperature: 14 days. Refrigerated: 28 days. Frozen: Unacceptable. | |
Rejection criteria: |
Specimens other than whole blood • Gross hemolysis | |
TEST DETAILS |
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CPT code(s): |
82775 | |
| Note: The billing party has sole responsibility for CPT coding. Any questions regarding coding should be directed to the payer being billed. The CPT codes provided by GML are based on AMA guidelines and are for informational purposes only. | ||
Methodology: |
Enzymatic Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS) |
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Synonyms: |
Quest test code 4728, GALT; G1PU,Galt,Gal-1-P,G-1-P-U Trans,G1PUT,Galactose 1 P,Galactosemia
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Clinical significance: |
Galactosemia is an autosomal recessive disorder that results from a deficiency of 1 of the 3 enzymes catalyzing the conversion of galactose to glucose: Galactose-1-phosphate uridyltransferase (GALT), galactokinase (GALK), and uridine diphosphate galactose-4-epimerase (GALE). Galt deficiency is the most common cause of galactosemia and is often referred to as classic galactosemia. The complete or near-complete deficiency of galt enzyme is life threatening if left untreated. Complications in the neonatal period include failure to thrive, liver failure, sepsis, and death; Even with survival, long-term intellectual disability can occur. | |