Invitae Epilepsy Panel
Use
The Invitae Epilepsy Panel analyzes genes associated with both syndromic and nonsyndromic causes of epilepsy, a common neurological disease characterized by recurrent seizures. Testing these genes can confirm a clinical diagnosis, predict prognosis, and may inform family planning or enrollment in clinical trials. The panel includes genes related to developmental and epileptic encephalopathy and syndromic conditions like Rett and Angelman syndromes, offering a broad evaluation of conditions associated with seizures due to the genetic heterogeneity of epilepsy.
Special Instructions
This test is available through a sponsored, no-charge testing program, and there are options for insurance and patient-pay billing. Full-gene sequencing and deletion/duplication analysis are performed using next-generation sequencing technology. Specific genes can be removed to customize the test.
Limitations
The test analyzes coding exons and adjacent intronic sequences of targeted genes, covering select non-coding variants but excluding others. Not all structural variants or those in promoters or non-coding regions are detected. Analytical sensitivity is >99% for certain variants, but there may be limitations for large insertions/deletions, mosaicism, or variants within complex architectures. Certain genetic conditions, like uniparental disomy or imprinting defects, are not detected by this assay.
New York Approved
Methodology
NGS (CGP)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)