Geisinger Medical Laboratories/Geisinger Proven Diagnostics Test Catalog

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


Geisinger Epic Procedure Code: LAB1713         Geisinger Epic ID: 46502

Specimen type:
Preferred collection container:
Specimen required:
2 mL serum; minimum 0.2 mL
Special notes:
Serum separator tube (SST) UNCACCEPTABLE. Freeze the sample immediately after serum separation. Please submit a separate frozen aliquot for this test. Ship within 24 hours of collection.

Specimen processing instructions:
Centrifuge and aliquot. Freeze the sample immediately after serum separation. Please submit a separate frozen aliquot for this test. Ship within 24 hours of collection. 
Transport temperature:
Specimen stability:
Room temperature and refrigerated: Unacceptable. Frozen: 31 days.
Rejection criteria:
Specimens collected in an SST. Specimens received at room temperature or refrigerated.

CPT code(s):
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.
Fluorometric Enzyme Assay
Quest test code 34261
Clinical significance:
Fabry disease is an X-linked inherited lysosomal storage disorder that can manifest in both hemizygous males and heterozygous females; in general, males' symptoms are more severe than females. This condition is caused by a deficiency of the enzyme Alpha-Galactosidase A (Alpha-Gal A). The disease is a chronic progressive, manifests in multi-organ systems, and encompasses a spectrum of phenotypes. The classic form occurs in males with less than 1% Alpha-Gal A enzyme activity. The common presenting symptoms in childhood or adolescence are periodic crises of severe pain in the extremities (acroparesthesia), the appearance of cutaneous vascular lesions (angiokeratomas), sweating abnormalities (anhidrosis, hypohidrosis, and rarely hyperhidrosis), characteristic corneal and lenticular opacities, and proteinuria. Heterozygous females and males with non-classical phenotype typically have milder symptoms at a later age of onset than males with classical phenotype. False-positive results can occur in pseudodeficiency, some GLA variants and secondary improper specimen handling. AGA enzyme activity measured in serum is helpful in the diagnosis of Fabry disease.

Performing Locations

Quest Diagnostics

Technical Lead: Michael Weaver    
Frequency: Set up: Thursday. Report available: 8-14 days    
Performed STAT? No
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