|
|
| A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
Entrapment Neuropathy Evaluation - Athena #296
MessageThis 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
ENTRAP NEURO(ATH#296)
Includes
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
Sanger Sequencing, Multiplex Ligation-dependent Probe Amplification (MLPA)
Report Available
28 - 42 days
Reference Range
Provided with the patient report in CPRS.
Clinical Significance
Type of disorder: Peripheral Neuropathy, Hereditary
Typical presentation: Weakness and pain with motor or sensory disturbances indicative of a focal or multifocal compression neuropathy
Disease(s) tested for: Charcot-Marie-Tooth Disease (CMT), Type 1A (CMT1A), Hereditary Neuropathy with Susceptibility to Pressure Palsies (HNPP), Amyloidosis, Multifocal Neuropathy (MFN)
Utility: Detects duplications, deletions, and sequence variation in the PMP22 gene and sequence variations in Transthyretin gene
Typical presentation: Weakness and pain with motor or sensory disturbances indicative of a focal or multifocal compression neuropathy
Disease(s) tested for: Charcot-Marie-Tooth Disease (CMT), Type 1A (CMT1A), Hereditary Neuropathy with Susceptibility to Pressure Palsies (HNPP), Amyloidosis, Multifocal Neuropathy (MFN)
Utility: Detects duplications, deletions, and sequence variation in the PMP22 gene and sequence variations in Transthyretin gene
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
