
Whole exome sequencing (80�100x)
Author Details
Written By
Dr. Sameer Joshi
MD (Physician)
Supervised By
Dr. Sana Khan
MBBS





Whole exome sequencing (80�100x)
High-coverage whole exome sequencing (80–100x) from accredited UAE labs, collected at home in Dubai for precise genetic diagnosis and personalized care.
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Know More About Whole exome sequencing (80�100x)
Whole exome sequencing (80–100x) delivers high‑coverage sequencing of the protein‑coding regions of the genome, enabling sensitive detection of single‑nucleotide variants and small insertions/deletions with improved accuracy for heterozygous and low‑level variants. Conducted by accredited UAE laboratories with convenient at‑home sample collection across Dubai, this test supports precise genetic diagnosis for unexplained developmental disorders, suspected inherited conditions and cancer predisposition, guiding more personalized treatment and care plans. Results include a clinical report and are best interpreted with professional genetic counselling; WES may not reliably detect balanced rearrangements, large structural variants or repeat expansions, so additional targeted tests may be recommended when clinically indicated.
Parameters Measured
- Mean target coverage 80–100×
- Percent target bases ≥20×
- Percent target bases ≥30×
- On‑target rate and coverage uniformity
- Duplication rate and library yield
- Variant types reported: SNVs, Indels, CNVs, mtDNA variants; pathogenic/likely pathogenic, VUS (ACMG)
When to Test it?
- High-coverage whole exome sequencing at 80–100x for improved detection of rare and clinically relevant variants
- Clinical-grade processing in UAE-accredited laboratories with strict quality-control metrics
- Convenient home blood collection across Dubai by trained phlebotomists for minimal disruption
- Comprehensive bioinformatics analysis with ACMG-guided variant classification and clinician-ready report
- Secure data delivery with VCF/FASTQ export options and access to post-test genetic counseling
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Benefits Includes:
- High‑coverage whole exome sequencing (80–100x) for improved detection of SNVs, indels and low‑level mosaicism
- Targets ~20,000 protein‑coding genes to uncover clinically relevant variants across known disease loci
- Clinical‑grade bioinformatics with ACMG classification and a physician‑ready report to support diagnosis and treatment planning
- Convenient home sample collection across Dubai with processing in accredited UAE laboratories for local compliance
- Ideal for rare disease diagnosis, carrier assessment and personalized care recommendations with confirmatory testing guidance
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Test requirements:
- High-depth whole exome sequencing at 80–100x coverage for sensitive detection of coding variants
- Home blood sample collection across Dubai by trained phlebotomists, with secure transfer to accredited UAE laboratories
- Comprehensive bioinformatics pipeline with variant annotation and clinical interpretation based on ACMG guidelines
- Clinician-ready diagnostic report with actionable findings and typical turnaround time of 4–6 weeks (lab-dependent)
Author Details
Written By
Dr. Sameer Joshi
MD (Physician)
Supervised By
Dr. Sana Khan
MBBS

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