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

CardiovascularCardiovascular
DermatologyDermatology
DysmorphologyDysmorphology
Ear, Nose, and ThroatEar, Nose, and Throat
EndocrinologyEndocrinology
HematologyHematology
ImmunologyImmunology
Metabolic DisordersMetabolic Disorders
NephrologyNephrology
NeurologyNeurology
OphthalmologyOphthalmology
OsteologyOsteology
PneumologyPneumology
Reproductive HealthReproductive Health

Key Features

Deep Coverage

Deep Coverage

≥100X average depth for high accuracy.

Superior Data Quality

Superior Data Quality

≥90% bases with Q30 score.

Comprehensive Variant Detection

Comprehensive Variant Detection

Identifies SNVs, Indels, and CNVs.

Uniparental Disomy Analysis

Uniparental Disomy Analysis

Detects UPD regions for imprinting disorders.

Coverage of Complex Genes

Coverage of Complex Genes

Includes SMN1, SMN2, and DMD.

Chromosomal Assessment

Chromosomal Assessment

Detects aneuploidies and determines chromosomal sex.

Sample Requirements

Turnaround Time

Turnaround Time

21 Days

Sample Requirement

Sample Requirement

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