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CAPN3 Evaluation - Athena #585
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
CAPN3 EVAL(ATH#585)
Alias/See Also
Limb Girdle Muscular Dystrophy
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, Dosage Analysis
Report Available
28 - 42 days
Reference Range
Provided with patient report in CPRS.
Clinical Significance
Type of disorder: Neuromuscular Disorders
Typical presentation: Face-sparing, proximal > distal progressive myopathy with elevated CK. Age of onset ranges from infancy to late adulthood. May involve respiratory complications.
Disease(s) tested for: Limb Girdle Muscular Dystrophy, Calpainopathy, LGMD2A
Utility: Detects mutations and deletions in CAPN3 gene
Typical presentation: Face-sparing, proximal > distal progressive myopathy with elevated CK. Age of onset ranges from infancy to late adulthood. May involve respiratory complications.
Disease(s) tested for: Limb Girdle Muscular Dystrophy, Calpainopathy, LGMD2A
Utility: Detects mutations and deletions in CAPN3 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
