Primary Periodic Paralysis Panel
Use
This test is designed for individuals with a clinical or suspected diagnosis of primary periodic paralysis, particularly those experiencing symptom onset in the first or second decade of life. Symptoms may be triggered by specific factors such as exercise, meals, or temperature changes. Identifying genetic mutations associated with primary periodic paralysis can aid in confirming a diagnosis and guiding patient management.
Special Instructions
Not provided.
Limitations
The test evaluates mutations within the specified 3 genes known to be associated with primary periodic paralysis but it may not detect all possible mutations contributing to the disorder. It may not detect mutations in other genes or genomic regions not covered by the panel or CNV analysis.
New York Approved
Methodology
NGS (CGP)
Biomarkers
CACNA1S, SCN4A, KCNJ2
Gene
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