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Periodic Paralysis Advanced Sequencing Evaluation - Athena #5507
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
PARALYSIS EV(ATH#5507
Includes
Genes Included: CACNA1S, KCNJ2, SCN4A
Preferred Specimen
Whole blood - Lavender EDTA - 3 tubes
Minimum Volume
Preferred: 8 mL
Minimum: 6 mL
Minimum: 6 mL
Instructions
Ship same day.
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: Severe episodes of muscle weakness, often triggered by abnormally high or low potassium levels (hyperkalemic and hypokalemic periodic paralysis), or high thyroid levels (thyrotoxic).
Disease(s) tested for: Periodic Paralysis
Utility: Detects mutations in 3 genes that cause severe episodes of muscle weakness.
Typical presentation: Severe episodes of muscle weakness, often triggered by abnormally high or low potassium levels (hyperkalemic and hypokalemic periodic paralysis), or high thyroid levels (thyrotoxic).
Disease(s) tested for: Periodic Paralysis
Utility: Detects mutations in 3 genes that cause severe episodes of muscle weakness.
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
