Exome Analysis

Many conditions —especially rare syndromic disorders—are impossible to being pinpointed to a specific group of symptoms or diseases.

In such cases, exome sequencing—that is, sequencing of (nearly) all coding regions of the human genome—provides a valuable alternative to targeted panel sequencing.

Ensuring a sound and targeted interpretation of exome sequencing data requires a detailed description of the patient’s symptoms. Simultaneous sequencing of the parents can also aid in the interpretation of the extensive analyses (trio exome sequencing after prior consultation).