Whole Exome Sequencing sequences all 20,000 protein-coding genes (~2% genome) identifying rare variants (SNVs, indels, CNVs, mtDNA) causing undiagnosed disorders.

High coverage 120x nuclear/2000x mtDNA, low error 0.1%, TAT 4 weeks. Kanopy NGS excels uniformity.​​

Recommended for pediatric neurology, developmental delay, dysmorphic syndromes post normal karyotype. Genetic counseling integral.​

Why Is This Test Recommended?
You may need this test to:

• Diagnose rare Mendelian disorders (yield 30-50%)​

• Guide precision therapy e.g., enzyme replacement​

• Family trio sequencing for inheritance​

• Complex phenotypes like neuro-metabolic​

• Hereditary cancers/ cardiomyopathies​
  

Symptoms or Conditions That May Require WES
You may need this test if experiencing:

• Unexplained seizures, developmental delay​

• Multi-system failure unexplained​

• Recurrent miscarriages/infant deaths​

• Dysmorphic features/consanguinity​

• Drug-resistant epilepsy​
  

Why do I need a WES test?
Ends diagnostic odyssey for 1/3 families, enables targeted treatment averting progression.​


How Do I Prepare for WES?
Genetic counseling pre-test essential.
No fasting; collect 3-5mL blood 2 EDTA vials.
Family samples (trio) improve interpretation.
Consent for incidental findings.​​

How Is WES Performed?
Phlebotomy room collection:
Disinfect site, draw blood into purple-top tubes.
Freeze/ship to NGS lab (Kanopy automated).
Bioinformatics pipeline variant calling ACMG classified.
Expert review, report 4 weeks.​

What Happens After the Test?
Counseling session interprets variants.
Resume normalcy; store sample future.
Digital report with VUS list.​

When Should I Consult After Test?
Pathogenic variant found.
Actionable secondary findings.
Reanalysis request post new symptoms.​

Advantages

- Covers >20,000 genes + full mitochondrial genome.
- ~10 GB data/sample for high coverage and accuracy.
- Clinically validated pipeline with expert review.
- Uniform coverage across GC-rich and repetitive regions.
- Enhanced detection of SNVs, indels, and mtDNA variants.
- High signal-to-noise ratio → improved variant confidence.
- Mean Coverage: ≥ 120× for nuclear exome, ≥ 2000× for mitochondrial genome.
- Uniformity: ≥ 95% bases covered at ≥ 20×.
- Variant Call Precision: > 99% for SNVs, > 95% for indels.
- Q30 ≥ 92%.
- Duplication Rate < 1%.

Lifestyle Tips
Join support groups post-diagnosis.
A healthy diet aids in some metabolic processes.
Regular follow-up genetics clinic.​

What Does WES Measure?
~23,000 exons, mtDNA heteroplasmy.
Precision 99% SNVs, CNV detection.
GC bias negligible unlike others.​

What Do Results Mean?
Pathogenic: Diagnosis confirmed.
Likely pathogenic: High confidence.
VUS: Monitor/ reclassify later.​

What If Results Abnormal?
Targeted Rx, clinical trials.
Prenatal/family testing cascade.​

Can Results Affected By?
Poor DNA quality, mosaicism limits.​

Factors Affecting WES
Sample age/handling degrades.
Parental mosaicism confounds.
Population databases bias.​

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FAQs
Normal? No variants pathogenic.​
Fasting? No.​
Incidental findings? Optional report.​
Success rate? 40% undiagnosed.​
Blood only? Yes preferred.​