Clinical Exome Panel

Function

The Clinical Exome Panel uses Next-Generation Sequencing (NGS) to examine the 'exome'—the approximately 1-2% of the genome that contains the protein-coding regions (exons). While small, this area contains roughly 85% of known disease-causing mutations. This panel focuses specifically on genes known to be associated with clinical phenotypes.

Why it is Ordered

This test is typically reserved for patients with complex, undiagnosed medical conditions where traditional testing has failed to provide a diagnosis (often called a 'diagnostic odyssey'). It is highly effective for identifying rare genetic disorders, developmental delays, and multi-systemic congenital anomalies.

Associated Conditions

• Mendelian Disorders: Conditions caused by a single gene mutation (e.g., Cystic Fibrosis, Marfan Syndrome).
• Neurological Disorders: Undiagnosed epilepsy, ataxia, or neuromuscular degeneration.
• Metabolic Errors: Inborn errors of metabolism that manifest in childhood.
• Rare Syndromes: Dysmorphic features combined with intellectual disability.