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Test Code Billings Clinic: 4867 Athena: 4001 Complete Charcot-Marie-Tooth Disease (CMT) Evaluation, Blood

Performing Laboratory

Athena Diagnostics, Inc.

Useful For

Symmetric, slowly progressive distal sensory and motor polyneuropathy of the arms and legs resulting in muscle weakness and atrophy of the hands and feet. Foot deformities are common. Family history may or may not be present.

Methodology

Pulse-Field Gel Electrophoresis (PFGE)/Southern Blot/Polymerase Chain Reaction (PCR)/DNA Sequencing

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

Specimen Requirements

Contact Billings Clinic Laboratory at 866-232-2522 prior to specimen draw for specific instructions.

  • It is imperative to follow specimen requirement directions. Due to time sensitivity, specimen must be shipped the day of draw. Do not draw or transport specimen on weekends.
  • Draw blood in a lavender-top (EDTA) tube(s), and send 20 mL of EDTA whole blood.
  • Do not centrifuge.
  • Forward unprocessed whole blood promptly at ambient temperature only.

Reference Values

Reference values are included with patient’s report.

Test Classification and CPT Coding

83891 - isolation or extraction of highly purified nucleic acid

83894 - separation by gel electrophoresis

83896 x 32 - nucleic acid probe, each

83898 x 78 - amplification of patient nucleic acid, each nucleic acid sequence

83901 - amplification of patient nucleic acid, multiplex, each additional nucleic acid sequence

83903 - mutation scanning, by physical properties, single segment, each

83904 x 81 - mutation identification by sequencing, single segment, each segment

83909 - separation and identification by high resolution technique

83912 - interpretation and report