Exome
Exome
Whole Exome Sequencing (WES) targets the protein-coding regions of the genome, where most disease-causing mutations are found.
With over 7,000 rare diseases identified—80% of which have a genetic basis—WES offers a powerful approach to uncover their causes.
Traditional diagnostic methods can be slow, costly, and inconclusive; WES streamlines the process by delivering broad genetic insights in a single test.
Operify Exome enhances WES by combining comprehensive coverage with advanced interpretation, improving diagnostic yield and patient outcomes.
Clinical Areas














Key Features

Deep Coverage
≥100X average depth for high accuracy.

Superior Data Quality
≥90% bases with Q30 score.

Comprehensive Variant Detection
Identifies SNVs, Indels, and CNVs.

Uniparental Disomy Analysis
Detects UPD regions for imprinting disorders.

Coverage of Complex Genes
Includes SMN1, SMN2, and DMD.

Chromosomal Assessment
Detects aneuploidies and determines chromosomal sex.
Sample Requirements

Turnaround Time
21 Days

Sample Requirement
Blood/Saliva/Cheek Swab/Genomic DNA/Dry Blood Spot