Congenital Myasthenic Syndrome Panel
Use
This test is for individuals with clinical or suspected diagnosis of congenital myasthenic syndrome (CMS). Particularly it helps in cases with relevant clinical features, onset of symptoms in infancy or early childhood, negative anti-AChR and anti-MuSK antibody testing, and electrodiagnostic results consistent with CMS.
Special Instructions
The test is designed to accommodate both Exome and Genome platforms. Options for Exome-Wide CNV Analysis and Prenatal testing are available. STAT Testing can expedite results, though an additional fee is applicable. Institutional pricing and ordering information is accessible through myPrevent account access.
Limitations
The test was developed following CAP and CLIA regulations, but it has not been cleared or approved by the US Food and Drug Administration. Results depend on the clinical information provided, and variant interpretation directly correlates with the quality of the data shared with the lab. Turnaround times may vary depending on test volumes, and delays may occur if additional analyses or family comparisons are required.
New York Approved
Methodology
NGS (CGP)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Container
Standard blood collection tube
Collection Instructions
Ensure proper labeling and use standard procedures for blood collection.