Whole Exome Sequencing
The exome is just 1–2% of your genome — yet it contains 85% of all known disease-causing mutations. Whole Exome Sequencing (WES) sequences all ~21,000 protein-coding genes at 150–180X depth using Illumina iScan technology, identifying the genetic cause of complex, rare, and undiagnosed conditions that have resisted every other test. For families who have been searching for answers for years, WES is often the final, definitive answer.
Rare disease diagnosis
Identify disease-causing variants for rare, complex, and undiagnosed genetic conditions that other tests missed
Neurodevelopmental disorders
Genetic basis of autism, global developmental delay, intellectual disability, and epilepsy
SNV + CNV detection
Both single nucleotide variants and copy number variations identified in a single comprehensive test
De novo vs inherited variants
Distinguish between new spontaneous mutations and inherited variants — critical for recurrence risk counseling
Precision medicine guidance
Specific gene variants inform targeted therapies, personalized treatment plans, and preventive strategies
Family risk assessment
Understand hereditary patterns and recurrence risks for siblings and future children
Pre-test counseling (recommended)
Speak with our Genomic Expert before ordering to confirm WES is the right test for your clinical situation, and understand what to expect from results.
Order with referral confirmation
Confirm you have a doctor's referral. Your home collection kit ships within 24 hours — EDTA blood tube and saliva swab included.
Blood + Saliva sample collection
Collect both samples at home using the kit. 3–4ml EDTA blood + saliva swab. Return with prepaid courier label provided.
Exome capture + NGS sequencing
Exonic regions are captured and sequenced at 150–180X depth on Illumina iScan in our NABL & CAP accredited lab. All ~21,000 protein-coding genes analyzed.
Bioinformatics + ACMG classification
Variants classified as Pathogenic, Likely Pathogenic, VUS, or Benign per ACMG and ClinVar guidelines. Primary, incidental, and carrier findings all reported.
Clinical report + Genomic Expert consultation
Comprehensive WES report in 31 days. Detailed post-result consultation with our Genomic Expert to review findings and coordinate specialist referral.
Your Whole Exome Sequencing Report
A snapshot of your comprehensive WES clinical report
- All ~21,000 protein-coding genes sequenced
- 150–180X coverage depth — high accuracy
- SNV + CNV detection in single test
- ACMG-guideline variant classification
- NABL & CAP accredited lab
- Post-result Genomic Expert consultation