Whole Exome Sequencing: Fast & Precise WES Genomic Test
First of all, Whole Exome Sequencing (WES) utilizes Next-Generation Sequencing (NGS) to read all ~20,000 protein-coding genes in human DNA. Essentially, exonic regions harbour over 85% of all disease-causing genetic mutations. As a result, geneticists detect rare hereditary disorders, neurodevelopmental conditions, and metabolic syndromes with unprecedented diagnostic yield.
Book your WES Genomic Test at Henotic Diagnostics for comprehensive genomic analysis. Furthermore, our accredited molecular facility operates 24/7 to provide seamless sample registration.
📋 Your Whole Exome Sequencing Test at a Glance
| 🔍 Detail | 📋 Info |
|---|---|
| 🩺 Technology | Next-Generation Sequencing (NGS) Exome Enrichment |
| 🩸 Sample Type | 3-5 ml Peripheral Blood in EDTA Tube |
| 💰 Price Range | ₹18,000 – ₹25,000 (Comprehensive genomic profile) |
| 📄 Report TAT | 14 to 21 Days (ACMG Variant Classification Report) |
| 🕐 Availability | 24/7 Operations (Home sample collection available) |
| 👩⚕️ Specialist | Dr. Pratibha Patil — Chief Consultant Radiologist |
| 🍽️ Fasting | No Fasting Required (Normal diet allowed) |
| 💳 Insurance | Reimbursement Documentation Support provided |
| 🏅 Accreditation | NABL Accredited · ISO Certified · CAP Compliant |
Whole Exome Sequencing Quality Standards & Certifications
Overview of Whole Exome Sequencing (WES)
To begin with, WES Genomic Test (WES) is the most effective diagnostic test for identifying underlying genetic causes of complex disorders. At the same time, experts at Henotic Diagnostics deploy state-of-the-art Next-Generation Sequencing platforms to read coding DNA regions.
What Does the Test Evaluate?
Specifically, WES evaluates single-nucleotide variants (SNVs), micro-deletions, micro-duplications, and frameshift mutations across all 20,000 coding genes. Consequently, clinical geneticists identify causative variants in unexplained neurodevelopmental delay or congenital anomalies. Furthermore, high-depth bioinformatic pipelines align variants against global population databases like gnomAD and ClinVar. As a result, clinicians receive actionable molecular diagnoses. In fact, to review genomic standards, consult the MedlinePlus DNA Sequencing Guide.
Furthermore, comfortable reception lounge ensuring smooth patient intake for genetic sample collection
What is Whole Exome Sequencing?
In general, WES Genomic Test targets the exome, which comprises approximately 1% to 2% of the human genome. Essentially, exons contain the genetic instructions for building all functional proteins. Specifically, genomic DNA is isolated from peripheral blood, enriched using magnetic probe arrays, and sequenced at >100x mean depth. Therefore, bioinformatic algorithms filter millions of genetic variants down to specific disease-causing mutations. Additionally, this test replaces lengthy diagnostic odysseys with a single definitive test.
Additionally, high-throughput Next-Generation Sequencing analyzers generate high-depth exome data
What Does Whole Exome Sequencing Check?
Overall, WES provides total genomic profiling across diverse clinical disease categories:
Key Genetic Variant Categories Analyzed
In addition, bioinformatic analysis classifies variants into Pathogenic, Likely Pathogenic, or VUS categories
When Is This Test Recommended?
For example, clinical geneticists order WES Genomic Test when traditional single-gene tests fail to establish a diagnosis. In particular, physicians recommend WES for pediatric patients with intellectual disability, global developmental delay, or multi-system congenital malformations. Moreover, it is recommended for families with suspected hereditary neuromuscular or metabolic conditions. In addition, couples planning pregnancy after prior affected children utilize WES for carrier verification.
Moreover, expert molecular geneticist interpretation ensures accurate ACMG variant classification
Emergency Warning Signs in Metabolic Genetic Disorders
Ideally, infants presenting with acute metabolic decompensation, intractable seizures, poor feeding, or sudden lethargy require urgent tertiary pediatric care. In addition, if rapid neurological regression occurs, emergency hospital admission is vital. Indeed, early molecular diagnosis enables targeted metabolic therapy.
Whole Exome Sequencing Cost Guide
| Genomic Test Category | Approximate Cost (₹) |
|---|---|
| Clinical Whole Exome Sequencing (Proband WES) | First, standard WES test pricing is ₹18,000 – ₹25,000. |
| Trio Whole Exome Sequencing (Proband + Parents) | Second, Trio WES pricing is ₹45,000 – ₹55,000. |
| Targeted NGS Gene Panel | In addition, specific multigene panel costs ₹12,000 – ₹16,000. |
| Pre & Post-Test Genetic Counseling | Finally, expert genetic counseling fee is ₹1,500 – ₹2,500. |
Comparison: Whole Exome Sequencing vs. Targeted NGS Panel & Karyotyping
On one hand, chromosomal karyotyping detects only large structural abnormalities under a microscope, whereas WES Genomic Test examines base-by-base DNA letters across all 20,000 coding genes. Consequently, WES provides unmatched diagnostic resolution for single-gene mutations.
| Feature | Whole Exome Sequencing (WES) | Targeted Gene Panel |
|---|---|---|
| Gene Coverage Scope | First, WES analyzes ~20,000 coding genes simultaneously. | However, gene panels examine only 50 to 500 specific genes. |
| Diagnostic Yield for Rare Disease | Second, WES yields 35% to 50% diagnostic success rate. | In contrast, panel yield is limited if candidate gene is missed. |
| Future Data Re-Analysis | In addition, WES raw data can be re-analyzed as new genes are discovered. | Meanwhile, gene panels cannot be expanded without re-sequencing. |
| Sample Requirement | Finally, WES requires a single blood sample in EDTA tube. | Likewise, gene panels require a blood sample in EDTA tube. |
Frequently Asked Questions
Is a Whole Exome Sequencing test painful? ▼
However, routine venous blood collection involves only a mild needle prick, while sample processing is completely laboratory-based.
Do I need to fast before a Whole Exome Sequencing test? ▼
Because DNA extraction depends on cellular integrity rather than metabolic levels, fasting is unnecessary.
How long does the WES procedure take? ▼
Generally, blood collection takes 5 minutes, while full bioinformatic NGS sequencing report turnaround requires 14 to 21 days.
How long until I receive diagnostic genetic results? ▼
Fortunately, complete ACMG-classified genetic variant reports are delivered within 2 to 3 weeks.
What is the cost of Whole Exome Sequencing? ▼
Overall, high-precision Whole Exome Sequencing ranges from ₹18,000 to ₹25,000 all-inclusive.
Quick Appointment Booking
Schedule your Whole Exome Sequencing test with accredited molecular diagnostic experts.
Call: 088793 27184 WhatsApp BookingTest Summary
Reporting Molecular Diagnostic Specialist
Dr. Pratibha Patil
Chief Consultant Radiologist & Clinical Diagnostics Specialist
MBBS, MD (Radiodiagnosis) · 15+ Years Clinical Experience
Furthermore, your Whole Exome Sequencing data is interpreted by senior clinical bioinformaticians and medical geneticists following ACMG guidelines. Consequently, detailed reports provide treating physicians with definitive evidence for patient care.
Our Accreditations & Quality Standards
Certified excellence ensuring high-depth NGS sequencing accuracy and patient data privacy.
What Our Patients Say
Real feedback from families who completed Whole Exome Sequencing with us.
“After 2 years of searching, the Whole Exome Sequencing test finally identified our child’s exact genetic mutation. Furthermore, genetic counseling was invaluable.”
– Rajesh M.
Verified Patient Review“Very smooth blood sample collection at home. In addition, the genetic report was exceptionally detailed and clear.”
– Sunita T.
Verified Patient Review“Affordable NGS WES pricing compared to other labs. Our pediatric neurologist praised the ACMG variant classification depth.”
– Amit V.
Verified Patient ReviewRelevant Diagnostic Genetic & Molecular Services
Corporate Booking Office & Location
If you require a Whole Exome Sequencing test for genetic diagnosis, do not delay. Call to schedule your sample collection.
Henotic Diagnostics
Second floor, Millennium Empire, Business Park, Plot No 47, D Mart Rd, Sector 15
Phone: 088793 27184 | Hours: Open 24 Hours