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Dysferlin DNA Sequencing Test - Athena #571
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#571)
Alias/See Also
Limb Girdle Muscular Dystrophy
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: Neuromuscular Disorders
Typical presentation: Autosomal recessive inheritance, early adult onset, and elevated levels of serum creatine kinase (CK).
Disease(s) tested for: Limb Girdle Muscular Dystrophy, LGMD2B
Utility: Detects mutations in the DYSF gene
Typical presentation: Autosomal recessive inheritance, early adult onset, and elevated levels of serum creatine kinase (CK).
Disease(s) tested for: Limb Girdle Muscular Dystrophy, LGMD2B
Utility: Detects mutations in the DYSF 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
