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Complete HNPP Evaluation - Athena #243
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
HNPP EVAL(ATH#243)
Alias/See Also
Hereditary Neuropathy with Susceptibility to Pressure Palsies
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
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: Individuals with transient focal or multifocal compression neuropathy, may involve pain, numbness and mild weakness
Disease(s) tested for: Charcot-Marie-Tooth Disease (CMT), Type 1A (CMT1A), Hereditary Neuropathy with Susceptibility to Pressure Palsies (HNPP)
Utility: Detects duplications/deletions and sequence variants in the PMP22 gene.
Typical presentation: Individuals with transient focal or multifocal compression neuropathy, may involve pain, numbness and mild weakness
Disease(s) tested for: Charcot-Marie-Tooth Disease (CMT), Type 1A (CMT1A), Hereditary Neuropathy with Susceptibility to Pressure Palsies (HNPP)
Utility: Detects duplications/deletions and sequence variants in the PMP22 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
