PATIENT CASE

WGS and RNA sequencing (RNAseq)

Whole Genome Sequencing with RNAseq reclassified a variant as likely pathogenic and established the patient’s diagnosis.

Trio WGS Test Findings:

• A heterozygous variant of uncertain significance (VUS) in the FOXP4 gene was detected
  • • • This variant was maternally inherited
• FOXP4 has been associated with an autosomal dominant neurodevelopmental disorder with…