PGmax™ - Comprehensive Epilepsy and Seizure Panel
Use
This test is designed for individuals with features suggestive of epilepsy, either due to a clinical diagnosis or observed symptoms of seizures with or without other medical complications. It may be useful in elucidating a genetic cause for epilepsy, informing treatment decisions, and potentially helping predict prognosis or the likelihood of related conditions.
Special Instructions
Clinical records including a detailed checklist and pedigree are recommended for accurate diagnosis and interpretation of test results. STAT testing is available, which accelerates the turnaround time, but incurs a 25% surcharge. If the turnaround time is not met, the surcharge is waived.
Limitations
The test may not identify all possible genetic variants that could be responsible for epilepsy. It relies on the detection abilities of NGS and CNV analysis, which, despite their comprehensiveness, may miss rare or complex variants, or those poorly covered by the assay design. Interpretation of results requires a comprehensive clinical profile and may suggest further testing.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
