SCN4A (Myotonia) DNA Sequencing Test
Use
The SCN4A (Myotonia) DNA Sequencing Test is designed to detect mutations in the SCN4A gene, which is associated with neuromuscular disorders such as sodium channel myotonia. This test helps in the diagnosis of conditions affecting muscle function and tone, aiding in clinical decision-making for treatment and management of affected patients.
Special Instructions
Collection date and informed consent are required. Ensure adequate specimen volume is collected, especially for pediatric patients, to facilitate DNA quantity for confirmatory testing if needed. Specimens should be sent ambient to maintain stability.
Limitations
Genetic sequencing may not detect all mutations associated with the condition. Variants of unknown significance may be identified, and their clinical relevance may not be determinable from the test alone. False negatives are possible if not all genetic regions of the SCN4A gene are covered due to technical limitations of next-generation sequencing. Confirmatory testing might be required for certain findings.
New York Approved
Methodology
NGS
Biomarkers
Result Turnaround Time
21-35 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
8 mL
Minimum Volume
6 mL
Container
Lavender-top (EDTA)
Collection Instructions
Invert several times to mix. Send ambient.
Causes for Rejection
Frozen specimens
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 10 days |
| Refrigerated | 10 days |