
Whole exome sequencing (80100x)
Author Details
Written By
Dr. Neha Kapoor
MBBS, DNB
Supervised By
Dr. Ananya Rao
MD (Microbiology)




Whole exome sequencing (80100x)
Clinical-grade 80–100x whole exome sequencing with at-home collection, delivering precise genetic insights to inform personalized care and preventive planning across Dubai and the UAE.
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Clinical‑grade whole exome sequencing (80–100x) examines the protein‑coding regions of the genome at high depth to detect single‑nucleotide variants, small insertions/deletions and other clinically relevant mutations, with convenient at‑home sample collection available across Dubai and the UAE. This test is used to investigate suspected genetic or undiagnosed conditions, assess hereditary cancer and cardiac risk, and provide pharmacogenomic information that supports personalized treatment and preventive planning. Results are issued as a clinician‑oriented report referenced to international databases and should be reviewed with a licensed medical geneticist or treating physician in the UAE before making clinical decisions.
Parameters Measured
- Exonic Single Nucleotide Variants (SNVs)
- Small insertions and deletions (indels) in coding regions
- Exonic Copy Number Variants (CNVs)
- Mean coverage depth (80–100×) and % target bases ≥20×
- Variant annotation & classification (Pathogenic, Likely pathogenic, VUS, Benign)
- Zygosity and allele frequency with population database cross‑references (gnomAD, ClinVar)
When to Test it?
- Clinical-grade whole exome sequencing at 80–100x coverage for high-confidence variant detection
- At-home blood collection kit with trained phlebotomy and same-day courier pickup across Dubai and the UAE
- Comprehensive report highlighting pathogenic, likely pathogenic and pharmacogenomic variants to inform personalized care
- Optional confirmatory testing and tele-genetic counselling with UAE-licensed specialists
- Secure results delivery and data handling compliant with UAE health regulations, with rapid turnaround for clinical decision-making
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Benefits Includes:
- Clinical-grade 80–100× exome coverage for high-confidence detection of single-nucleotide variants and small indels
- Comprehensive analysis of all protein-coding genes (~20,000) to assess inherited disease risk, carrier status, and medically actionable variants
- Convenient at-home sample collection with trained phlebotomist pickup across Dubai and the UAE, compliant with local laboratory and privacy regulations
- Clinician-ready report with ACMG-standard variant classification and interpretation by certified molecular geneticists
- Optional post-test genetic counseling and tailored recommendations to support preventive care, family planning, and specialist referrals within the UAE healthcare system
Doctor Recommended Checkups
Test requirements:
- Clinical-grade whole exome sequencing at 80–100× coverage for high-confidence detection of coding-region variants
- At-home sample collection (trained phlebotomist or validated saliva kit) with secure courier to an accredited clinical laboratory (DHA/CAP/CLIA-compliant)
- Comprehensive ACMG-guided interpretation highlighting pathogenic/likely pathogenic variants, carrier findings and clinically actionable insights
- Clear clinician-ready report with optional post-test genetic counselling and typical 4–6 week turnaround across Dubai and the UAE
Author Details
Written By
Dr. Neha Kapoor
MBBS, DNB
Supervised By
Dr. Ananya Rao
MD (Microbiology)

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