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FSHD Molecular Combing Test - Athena #5905
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
FSHD ANALYSIS(ATH#5905)
Alias/See Also
Facioscalpulohumeral Muscular Dystrophy
Preferred Specimen
Whole blood - Lavender EDTA - 5 tubes
Minimum Volume
Preferred: 15 mL
Minimum: 10 mL
Minimum: 10 mL
Instructions
Must arrive within 48 huors from collection on a weekday.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 72 hours
Refrigerated: Not specified
Frozen: Not specified.
Refrigerated: Not specified
Frozen: Not specified.
Methodology
Molecular Combing
Report Available
28 - 56 days
Reference Range
Provided with patient results in CPRS.
Clinical Significance
Type of disorder: Neuromuscular Disorders
Typical presentation: Slowly progressive asymmetric wasting of muscles of the face, shoulder and upper arms
Disease(s) tested for: Facioscalpulohumeral Muscular Dystrophy (FSHD)
Utility: Detects deletions and haplotype on chromosome 4q35 associated with FSHD
Typical presentation: Slowly progressive asymmetric wasting of muscles of the face, shoulder and upper arms
Disease(s) tested for: Facioscalpulohumeral Muscular Dystrophy (FSHD)
Utility: Detects deletions and haplotype on chromosome 4q35 associated with FSHD
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
