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CMT Advanced Evaluation - Initial Genetic Assessment - Athena #4010

Message
Test cost: $2004.95
This test is currently only available in BHS CPRS. If you are a Bedford provider and wish to see this test offered in Bedford CPRS- please contact the Bedford Laboratory.


Test Code
CMT,INITIAL(ATH#4010)


Alias/See Also
Charcot Marie Tooth Disease


Includes
Genes Included: GJB1, MFN2, MPZ, PMP22

Test Included:
MFN2 DNA Sequencing Test





Preferred Specimen
Whole blood - Lavender EDTA - 3 tubes


Minimum Volume
Preferred: 8 mL
Minimum: 6 mL


Transport Temperature
Room temperature. Avoid freezing.


Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable


Methodology
Next Generation Sequencing, Multiplex Ligation-dependent Probe Amplification (MLPA)

Report Available
28 - 42 days


Reference Range
Provided with patient report in CPRS


Clinical Significance
Type of disorder: Peripheral Neuropathy, Hereditary

Typical presentation: 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.

Disease(s) tested for: Charcot-Marie-Tooth Disease (CMT)

Utility: Detects duplications/deletions in the PMP22 gene and sequence variations in MPZ, MFN2, and GJB1 genes


Performing Laboratory
Athena Diagnostics, Inc.
200 Forest Street, 2nd Floor
Marlborough, MA 01752

Additional Information
Link to Athena Diagnostics test catalog

Last Updated: December 18, 2015


The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.