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CMT Advanced Evaluation - Recessive - Athena #4006
MessageTest cost $5177
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.
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,RECESSIVE(ATH#4006)
Alias/See Also
Charcot Marie Tooth Disease
Includes
Genes Included: FGD4, FIG4, GDAP1, LMNA, MTMR2, NDRG1, PRX, SBF2, SH3TC2
Tests Included:
Charcot-Marie-Tooth 4C (CMT4C) SH3TC2 DNA Sequencing Test
Tests Included:
Charcot-Marie-Tooth 4C (CMT4C) SH3TC2 DNA Sequencing Test
Preferred Specimen
Whole blood - Lavender EDTA - 3 tubes
Minimum Volume
Preferred: 8 mL
Minimum: 6 mL
Minimum: 6 mL
Transport Temperature
Room temperature. Avoid freezing
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Next Generation Sequencing
Report Available
28 - 42 days
Reference Range
Provided with the 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 sequence variations in PRX, GDAP1, SBF2, LMNA, FIG4, SH3TC2, MTMR2, NDRG1, FGD4
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 sequence variations in PRX, GDAP1, SBF2, LMNA, FIG4, SH3TC2, MTMR2, NDRG1, FGD4
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
