Whole Exome Sequencing
Manipal Hospitals offers advanced whole-exome sequencing in India through its specialised Genetics and Genomic Medicine services. This test examines all protein-coding regions of a patient’s DNA to identify disease-causing genetic variants. It supports the diagnosis of rare inherited conditions, complex syndromes, developmental delays, selected cancers, and treatment response patterns. The test findings are reviewed by clinical geneticists, helping clinicians plan personalised management, counselling, and long-term care for patients and families.
Hospital Locations
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Old Airport Road - Bengaluru
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Mysuru
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Mangaluru
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Dwarka - Delhi NCR
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Patiala
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Jaipur
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Vijayawada
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Salem
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Salt Lake - Kolkata
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Baner - Pune
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Bhubaneswar
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Siliguri
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Ranchi
How It Works
Whole exome sequencing is conducted through a structured, multi-step process overseen by the Genetics team at Manipal Hospitals. The pathway begins with a clinical genetics consultation that reviews symptoms, family history, and suitability for testing. Pre-test counselling explains the benefits, limitations, and possible incidental findings to ensure a clear understanding before consent.
A blood or saliva sample is collected following standard protocols. DNA is extracted and prepared in accredited molecular laboratories. Exonic regions are captured and sequenced using next-generation sequencing platforms. Bioinformatic tools filter and annotate genetic variants, comparing each variant with global databases to determine its clinical relevance. These findings are correlated with the patient’s symptoms and medical history.
Specialists determine which variants are likely to be disease-causing. A detailed whole-exome sequencing genetic test report is then prepared, summarising the results in clear clinical language. Post-test counselling is provided to explain the findings, outline next steps, and discuss implications for treatment, surveillance, and family planning. This structured approach ensures accuracy, clarity, and coordinated genomic care.
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Request a CallbackBenefits
Whole exome sequencing at Manipal Hospitals in India offers several advantages:
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Higher likelihood of diagnosing rare or complex genetic conditions
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A single comprehensive test instead of multiple targeted gene panels
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Support for treatment planning, surveillance, and long-term management
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Helps identify at-risk family members when relevant
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Structured pre- and post-test genetic counselling throughout the process
What to Expect
Consultation and Indication
Specialists review the medical history, symptoms, and prior investigations and explain why whole exome sequencing in India is recommended in the patient’s case.
Pre-test Preparation
Patients receive informed counselling about possible outcomes, including uncertain or incidental findings. Informed consent is documented.
Sample Collection
A simple blood draw or saliva sample is taken using minimally invasive procedures.
Sequencing and Analysis Phase
No patient involvement is required during this stage. The sequencing process and the expected turnaround time are explained in advance.
Results Visit
A clinical geneticist reviews the whole exome sequencing genetic test report, confirming whether a specific diagnosis has been identified.
Management and Family Implications
Recommendations may include management pathways, surveillance plans, additional testing, or targeted family testing. Reproductive counselling is provided when appropriate.
Long-term follow-up
Patients may be offered re-analysis of their data as scientific knowledge evolves. Follow-up involves coordination with treating specialists and support services.
Why Manipal Hospitals?
Manipal Hospitals provides comprehensive genomic evaluation supported by advanced laboratory infrastructure and experienced clinical geneticists. Whole-exome sequencing is conducted in accredited molecular laboratories that adhere to strict quality and safety standards. Each case is reviewed by genetic specialists who interpret findings in the context of clinical symptoms and family history. When appropriate, broader assessments such as whole exome sequencing in India are integrated with multidisciplinary care involving paediatrics, neurology, oncology, and other specialities.
The Genetics team offers structured counselling before and after testing, ensuring patients understand results and their implications. Long-term follow-up pathways enable ongoing monitoring, reanalysis of genetic data, and coordinated management with treating clinicians. This approach makes Manipal Hospitals a reliable centre for genomic diagnostics and personalised medical guidance.
Centre of Excellence
The Genetics and Genomic Medicine Department at Manipal Hospitals specialises in diagnosing inherited disorders, rare diseases, and complex syndromes. It provides next-generation sequencing, whole exome sequencing in India, chromosomal studies, and structured counselling to support personalised care. Multidisciplinary coordination across specialities ensures comprehensive evaluation and long-term support for patients of all ages.
Services Offered
Key genomic services at Manipal Hospitals include:
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Whole exome sequencing for rare and inherited disorders
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Targeted gene panels designed for specific clinical indications
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Chromosomal microarray and karyotype analysis for structural variations
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Family-based testing and cascade screening when hereditary patterns are suspected
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Genetic counselling to support diagnosis, treatment decisions, and long-term planning
Facilities & Services
Manipal Hospitals in India offer advanced services and supportive facilities, which include:
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Accredited molecular laboratories with next-generation sequencing platforms
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Bioinformatics infrastructure for variant filtering and annotation
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Multidisciplinary clinics involving genetics, oncology, paediatrics, and neurology
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Counselling rooms for confidential pre- and post-test discussions
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Digital records for long-term data storage and re-analysis
Frequently Asked Questions
Whole-exome sequencing can help identify genetic causes of rare diseases, developmental delay, neuromuscular disorders, metabolic conditions, epilepsy syndromes, and certain hereditary cancers. It is beneficial when standard tests have not been able to explain symptoms.
Standard genetic tests examine only one gene or a small group of genes. Whole-exome sequencing evaluates all protein-coding regions, increasing the likelihood of identifying clinically relevant genetic changes.
Most patients provide a blood sample, although saliva may be used when blood collection is difficult. Both methods allow for precise DNA extraction for sequencing.
Turnaround time varies by case, but results are typically available within several weeks. Complex variants, additional confirmatory tests, or detailed bioinformatic analysis may extend timelines. The expected duration is always explained in advance.
Yes. Family members may be tested to clarify whether a variant is inherited, new, or clinically significant. Manipal Hospitals offers structured counselling and advanced genomic services, making it a reliable choice for whole-exome sequencing in India.
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