Phone Icon Phone Support:  1-800-876-0243     Mail Icon  info@amsreferencelab.com     Location Icon 2916 E. Central Wichita, KS 67214    

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Phone Icon Phone Support:  1-800-876-0243     Mail Icon  info@amsreferencelab.com     Location Icon 2916 E. Central Wichita, KS 67214    
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Test ID: ZH154

Fabry Disease Full Gene Analysis

  • CPT Code: 81405
  • LOINC:
  • Specimen Type: EDTA
  • Frequency: Setup: Varies; analytic time 14 days
  • Instructions: 3mL whole blood in lavender tube. Send original vacutainer, ambient. Min 1.0mL. Specimen must arrive at Mayo within 96 hours of draw.
  • Text: Useful For: Confirmation of a diagnosis of classic or variant Fabry disease in affected males with reduced alpha-Gal A enzyme activity; Carrier or diagnostic testing for asymptomatic or symptomatic females, respectively.
  • Methodology: Polymerase chain reaction (PCR) amplification/DNA sequencing

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