Clinical Exome is a DNA test that can identify the molecular basis of a genetic disorder in individuals with a genetically heterogeneous disease and/or an atypical presentation of a genetic disorder. The main sample types for exome sequencing are cells, tissue, formalin-fixed and paraffin-embedded (FFPE) tissue, and liquid biopsies. The test covers genes that are known to be disease associated and curated from databases such as OMIM, HGMD and ClinVar.

Indications for prescribing Clinical Exome testing

• In cases where Clinical findings or family history is suggestive of an underlying genetic aetiology
• To screen for genetically heterogeneous diseases
• To detect an undiagnosed genetic disease (diagnostic odyssey) in a patient
• To facilitate medical intervention and/or treatment
• To confirm the suspected genetic diagnosis
• To guide reproductive planning and assessment of recurrence risk
• To determine a prognosis (based on family history)