Early Infantile Epileptic Encephalopathy Panel Now Available

Published on in CHOP News

New Next-Gen Sequencing Panel: Early Infantile Epileptic Encephalopathy (EIEE)

The Molecular Genetics Laboratory at The Children's Hospital of Philadelphia is launching a new next generation sequencing panel for early infantile epileptic encephalopathy (EIEE), and is now accepting specimens for analysis. This panel is unique to CHOP and is designed to deliver more comprehensive, actionable diagnostic information.

EIEE is a multi-gene panel that targets 15 genes associated with neonatal seizure disorders to identify a diagnostic molecular mutation. The combination of genes tested in this panel is unique to CHOP. When EIEE is suspected, rapid and comprehensive genetic testing is critical to starting the child on a therapy that can prevent intractable seizures and severe cognitive dysfunction caused by the disease.

For additional information about EIEE, or if you have questions about whole exome/next generation sequencing at CHOP, please contact Avni Santani, PhD at 267-426-5535, or Eric Marsh, MD, PhD at 215-590-1719.

Specimen requirements

  • 5 ml whole blood in an EDTA tube (preferred) or 8 ug of DNA.
  • A completed test requisition form is requested with the specimen.
  • Samples should be shipped by overnight carrier to arrive Monday – Friday between 9 a.m. and 4 p.m.

Specimen shipping address

Molecular Genetics Laboratory – CHOP
Abramson Research Center, Room 714G
3615 Civic Center Boulevard
Philadelphia, PA 19104-4318