RNA Sequencing to Help Identify Rare Genetic Disorders

INTRODUCTION TO RNA SEQUENCING (RNA-SEQ)
• Variants of uncertain significance (VUS) present interpretation and management challenges for healthcare providers and patients
• RNA sequencing (RNA-seq) provides functional evidence for variants expected to impact splicing and gene expression identified by traditional sequencing approaches, allowing for reclassification of VUS
• RNA-seq, which has been used in hereditary cancer testing to increase diagnostic yield, has become available in the rare disease setting through genome sequencing (GS) and exome sequencing (ES)
• Here, clinical cases resolved by RNA-seq performed at a clinical diagnostic laboratory will be discussed