Next-Generation Sequencing Panel for Craniofacial Syndromes

Published on in CHOP News

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

CSS is a multi-gene panel that simultaneously analyzes 17 genes associated with craniofacial syndromes, including the traditional first tier genes, to provide a more comprehensive diagnostic overview. Two additional genes, TCF12 and ERF, tested by Sanger sequencing, expand the craniofacial panel to a total of 19 genes. The combination of genes tested in this panel is unique to CHOP.

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