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SCN4A (Myotonia) DNA Sequencing Test - Athena #146
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
SCN4A DNA(ATH#146)
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 patient report in CPRS.
Clinical Significance
Type of disorder: Neuromuscular Disorders
Typical presentation: Adults may present with myotonia due to cold, exercise, normal or abnormal serum potassium levels.
Indications for testing: Proximal and/or distal stiffness or weakness. Non-dystrophic, non-syndromic myotonia with mild hypertrophy. Dystrophic but non-syndromic myotonia for differential.
Disease(s) tested for: Sodium Channel Myotonia
Utility: Detects point mutations in the SCN4A gene
Typical presentation: Adults may present with myotonia due to cold, exercise, normal or abnormal serum potassium levels.
Indications for testing: Proximal and/or distal stiffness or weakness. Non-dystrophic, non-syndromic myotonia with mild hypertrophy. Dystrophic but non-syndromic myotonia for differential.
Disease(s) tested for: Sodium Channel Myotonia
Utility: Detects point mutations in the SCN4A 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
