Test ID: ZG966
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.