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Dysferlin Protein Blood Test - Athena #561
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
DYSFERLIN(ATH#561)
Alias/See Also
Limb Girdle Muscular Dystrophy
Preferred Specimen
Whole blood - Lavender EDTA - 4 tubes
Minimum Volume
Preferred: 10 mL
Minimum: 7 mL
Minimum: 7 mL
Instructions
Refrigerate immediately. Must reach Athena within 36 hours after blood draw. Ship Monday-Thursday only.
Transport Temperature
Refrigerated
Specimen Stability
Room temperature: Unacceptable
Refrigerated: 48 hours
Frozen: Unaccetpable
Refrigerated: 48 hours
Frozen: Unaccetpable
Methodology
Western Blot
Report Available
28 - 42 days
Reference Range
Provided with the patient report in CPRS.
Clinical Significance
Type of disorder: Neuromuscular Disorders
Typical presentation: Includes LGMD2B, Miyoshi, distal anterior compartment and scapuloperoneal phenotypes. These distinctions are usually identifiable only at disease onset and may appear very similar as the disease progresses.
Disease(s) tested for: Limb Girdle Muscular Dystrophy, Miyoshi myopathy, LGMD2B
Utility: Detects the expression of dysferlin protein in blood
Typical presentation: Includes LGMD2B, Miyoshi, distal anterior compartment and scapuloperoneal phenotypes. These distinctions are usually identifiable only at disease onset and may appear very similar as the disease progresses.
Disease(s) tested for: Limb Girdle Muscular Dystrophy, Miyoshi myopathy, LGMD2B
Utility: Detects the expression of dysferlin protein in blood
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
