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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.
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.
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
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Rare Inherited Monogenic Disorders: First, it detects pathogenic mutations causing rare genetic syndromes and dysmorphic features.
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Neurological & Developmental Conditions: Second, it identifies genetic causes of unexplained epilepsy, autism, ataxia, and muscular dystrophies.
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Inborn Errors of Metabolism: In addition, it detects enzyme deficiencies, lysosomal storage diseases, and mitochondrial gene defects.
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ACMG Secondary Findings: Finally, it optional reports actionable secondary variants in hereditary cancer and cardiac susceptibility genes.
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
When to Seek Immediate Medical Evaluation
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.
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.
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“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
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“Very smooth blood sample collection at home. In addition, the genetic report was exceptionally detailed and clear.”
– Sunita T.
Verified Patient Review
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“Affordable NGS WES pricing compared to other labs. Our pediatric neurologist praised the ACMG variant classification depth.”
You can book your Whole Exome Sequencing appointment at our Navi Mumbai center through multiple convenient channels: call us directly at 088793 27184, send a WhatsApp message for instant booking, or use the online booking form on our website. Walk-in appointments are also welcome based on slot availability. We recommend advance booking to ensure zero wait times.
Yes, Henotic Diagnostics Navi Mumbai is empanelled with all major insurance companies and TPAs (Third Party Administrators) including Star Health, ICICI Lombard, New India Assurance, HDFC Ergo, Max Bupa, Bajaj Allianz, and many more. We offer cashless processing for Whole Exome Sequencing where applicable. Please carry your insurance card and a valid ID for seamless processing.
At Henotic Diagnostics Navi Mumbai, most Whole Exome Sequencing reports are delivered within 2-6 hours for routine tests. Critical and urgent reports are expedited on a priority basis. All reports are delivered digitally via WhatsApp, email, and our secure online patient portal. Hard copies are also available at the center upon request. You will receive an SMS/WhatsApp notification the moment your report is ready.
Henotic Diagnostics Navi Mumbai operates 24 hours a day, 7 days a week, including Sundays and public holidays. This means you can schedule your Whole Exome Sequencing at a time that is most convenient for you — early morning, late evening, or even overnight for emergency requirements. Our radiology and pathology departments maintain round-the-clock availability.
Yes, Henotic Diagnostics Navi Mumbai is fully accredited by NABL (National Accreditation Board for Testing and Calibration Laboratories) and ISO 9001:2015 certified. Our radiology equipment also complies with AERB (Atomic Energy Regulatory Board) safety standards. These accreditations ensure that every Whole Exome Sequencing performed at our facility meets the highest national and international quality benchmarks for accuracy, safety, and reliability.
