EpiXpanded Panel
Use
The EpiXpanded Panel is a targeted test for genetic causes of epilepsy using a trio approach. While whole exome is sequenced, analysis is focused on a phenotype-driven gene list, enabling identification of molecular etiology in patients with seizures, including infantile spasms and Lennox–Gastaut syndrome. Genetic findings have implications for treatment and management, especially given the high frequency of de novo mutations in epileptic encephalopathies. ([providers.genedx.com](https://providers.genedx.com/Resources/TIS-Files/TIS-921.pdf?utm_source=openai))
Special Instructions
Trio-based testing is emphasized where proband and both parents are submitted. While the exome is sequenced, only phenotype-relevant gene analysis is performed. ([providers.genedx.com](https://providers.genedx.com/Resources/TIS-Files/TIS-921.pdf?utm_source=openai))
Limitations
Although the whole exome is captured and sequenced, only a phenotype-driven gene list is analyzed, meaning findings outside the specified gene list are not assessed. ([providers.genedx.com](https://providers.genedx.com/Resources/TIS-Files/TIS-921.pdf?utm_source=openai))
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided