Whole Exome Sequencing

Description

Whole Exome Sequencing (WES) – Unlock the Power of Your Genetic Code

The Whole Exome Sequencing (WES) test from Lab Tests Dubai is a revolutionary, next-generation genetic diagnostic tool that analyzes the protein-coding regions of over 20,000 genes representing ~85% of known disease-causing mutations.

Unlike single-gene or small-panel tests, WES provides a comprehensive look at your DNA’s functional blueprint, making it one of the most powerful tools available for:

• Diagnosing rare and undiagnosed genetic disorders
• Identifying the root cause of complex pediatric conditions
• Solving diagnostic odysseys lasting years
• Guiding personalized treatment and management
• Enabling family risk assessment and carrier screening

This test is essential for:

• Children with developmental delay, seizures, or birth defects
• Patients with unexplained neurological, metabolic, or multisystem disorders
• Families with multiple affected members but no clear diagnosis
• Adults with early-onset neurodegenerative or muscle diseases
• Those exploring precision medicine beyond standard diagnostics

Using advanced NGS technology, WES detects:

• ✅ Single nucleotide variants (SNVs)
• ✅ Insertions/deletions (Indels)
• ✅ Copy number variations (CNVs) – when bioinformatically supported

With results in just 21 days, Lab Tests Dubai empowers clinicians, geneticists, and families to end diagnostic limbo and move toward targeted care, informed decisions, and hope.

Available through partner genetics centers, this service ensures clinical-grade accuracy, expert interpretation, and compassionate support because every patient deserves an answer.

Why You Need This Test

If you or a loved one has been through countless tests, specialists, and hospital visits without a diagnosis, this test could finally reveal the genetic root of the condition so you can stop guessing and start managing.

You need Whole Exome Sequencing if:

• Your child has global developmental delay, autism, or intellectual disability
• There are seizures, movement disorders, or muscle weakness with no cause
• You have multiple unexplained symptoms across body systems
• A family member has a suspected but unconfirmed genetic disorder
• You’ve had negative results from smaller gene panels
• You’re planning pregnancy and have a family history of rare disease

This test helps:

• End the “diagnostic odyssey” — some families wait 5–7 years for answers
• Confirm or rule out hundreds of rare diseases at once
• Guide treatment, therapy, and surveillance plans
• Inform reproductive choices (IVF, PGD, prenatal testing)
• Enable access to clinical trials or targeted therapies

Who Should Consider This Test?

WES is recommended for:

✅ Children with Unexplained Medical Conditions
Especially those with neurodevelopmental issues, congenital anomalies, or metabolic concerns.

✅ Patients with Suspected Monogenic Disorders
Where traditional testing has failed.

✅ Families with Multiple Affected Members
To identify inherited patterns.

✅ Couples with Recurrent Pregnancy Loss or Stillbirth
When a genetic cause is suspected.

✅ Adults with Early-Onset Neurological or Muscular Diseases
e.g., young-onset dementia, hereditary neuropathy.

✅ Oncologists & Researchers
Investigating cancer predisposition syndromes or somatic/germline interactions.

This test aligns with ACMG, ISCA, and WHO guidelines and is increasingly considered first-tier testingfor complex genetic presentations.

How Whole Exome Sequencing Works: Science Behind the Solution

While the human genome contains 3 billion base pairs, only ~1–2% (the exome) codes for proteins the building blocks of life. Despite its small size, over 85% of disease-causing mutations occur in these coding regions.

WES Process:

1. DNA Extraction – From blood, saliva, or tissue
2. Exome Capture – Using probes to isolate protein-coding regions
3. Next-Generation Sequencing (NGS) – High-depth reading of all exons
4. Bioinformatics Analysis – Filtering millions of variants
5. Clinical Interpretation – By board-certified molecular geneticists
6. Report Generation – With actionable findings and recommendations

It evaluates:

• Known pathogenic variants in databases (ClinVar, HGMD)
• Novel variants predicted to disrupt protein function
• Inheritance patterns (autosomal dominant/recessive, X-linked)

Results are classified per ACMG/AMP guidelines: Pathogenic, Likely Pathogenic, VUS, Benign.

What Happens If You Skip WES Testing?

Without comprehensive sequencing, patients may:

⚠️ Remain undiagnosed for years, leading to mismanagement
⚠️ Undergo invasive procedures or ineffective treatments
⚠️ Miss early interventions that improve outcomes
⚠️ Pass undetected mutations to future generations
⚠️ Be excluded from gene-specific therapies or trials

The good news? A confirmed diagnosis changes everything:

• Enables precision care and monitoring
• Ends unnecessary testing
• Guides enzyme replacement, dietary changes, or medications
• Supports palliative planning or curative options (e.g., gene therapy)

How to Prepare for the Test

To ensure accurate results:

✅ Sample Type: Whole blood (EDTA), saliva, or extracted DNA
✅ No fasting required
✅ Provide detailed clinical history and phenotypic information (crucial for accurate interpretation)
✅ For trio testing: Samples from both parents + child increase diagnostic yield by up to 40%

Test Overview

Benefits of Whole Exome Sequencing

🔹 Diagnoses the Undiagnosable
One test replaces dozens of single-gene assays.

🔹 High Diagnostic Yield
Identifies causative mutations in 30–50% of pediatric cases

🔹 Guides Precision Medicine
Tailors treatment based on genetic cause.

🔹 Supports Family Planning
Reveals recurrence risks and reproductive options.

🔹 Peace of Mind
Even a negative result rules out thousands of conditions.

If you’re tired of visiting specialist after specialist without answers, the Whole Exome Sequencing (WES) Test gives you the best chance for a diagnosis in 21 days.