Geisinger Medical Laboratories/Geisinger Proven Diagnostics Test Catalog

Order Display Name: Geisinger Epic Procedure Code Or ID CPT Code:  

GAL-1-P (GALT)

ORDERING INFORMATION:
Geisinger Epic Procedure Code: LAB3786         Geisinger Epic ID: 143076

SPECIMEN COLLECTION
Specimen type:
Whole blood
Preferred collection container:
Alternate Collection Container:
4 mL green/green-top (sodium heparin) tube
Specimen required:
5 mL whole blood; minimum 2 mL.
Special notes:
Patient's age is required.

SPECIMEN PROCESSING
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
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)
Synonyms:
Quest test code 4728, GALT; G1PU,Galt,Gal-1-P,G-1-P-U Trans,G1PUT,Galactose 1 P,Galactosemia
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.

Performing Locations

Quest Diagnostics

Technical Lead: Michael Weaver    
Frequency: Set up: Mon, Wed, Fri; Report available: 6-7 days    
Performed stat? No
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