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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: ZG966

Partial CMT - Axonal only

  • CPT Code:
  • LOINC:
  • Specimen Type: EDTA
  • Frequency: Setup: Mon-Fri; analytic time 21-26 days
  • Instructions: 15mL whole blood in lavender tube, ambient. Min 5.0mL. Must arrive at Athena Mon-Fri. Very expensive, requires preapproval.
  • Text: Detects deletions in CX32 (GJB1), and sequence variations in MPZ (P0), CX32 (GJB1), NFL, GDAP1, MFN2, LMNA, RAB7, GARS, and HSPB1 genes. Connexin32 (GJB1), MPZ and GDAP1 are included in this panel as they have been linked to both axonal and demyelinating phenotypes.
  • Methodology: Multiplex ligitation-dependent Probe Amplification, Polymerase Chain Reaction and DNA Sequencing.

 

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