Episodic Pain Syndrome Panel (Exome Platform)
Use
This test is designed for individuals with clinical or suspected diagnosis of an episodic pain syndrome, or with a family history of familial episodic pain syndromes (FEPS) that have not undergone previous genetic testing. It aims to identify genetic variants that may contribute to the condition, assisting in diagnosis and management.
Special Instructions
This test uses an exome platform and involves a combination of next-generation sequencing (NGS) and copy number variation (CNV) analysis. STAT testing is available, which may expedite results though it involves additional charges. The tests are performed following CAP and CLIA standards, ensuring high-quality results, although the test has not been FDA-cleared.
Limitations
The test is not FDA-approved, which may limit its use in certain clinical scenarios. While it aims to detect CNVs and sequence variants within the targeted genes, not all genetic factors may be covered due to the limitations of NGS technology and the potential for novel variants outside the coverage area. False negatives and variants of uncertain significance may occur.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
7-16 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided