Clinical Exome Sequencing: Fast & Precise High-Depth CES Test
Clinical Overview & Diagnostic Indications
First of all, High-Depth CES Test (CES Test) is the specialized Next-Generation Sequencing assay focused specifically on ~6,000 to 7,000 genes with proven clinical associations with human genetic diseases (OMIM morbid genes). Essentially, operating at ultra-high coverage depth (>150X), CES detects single nucleotide variants, microdeletions, insertions, and splice-site mutations with 99.9% precision. Consequently, medical geneticists, pediatricians, and neurologists diagnose complex inherited conditions cost-effectively.
Furthermore, book your High-Depth CES Test at Henotic Diagnostics for authoritative diagnostic accuracy. In addition, our accredited genomic laboratory operates 24/7 with convenient home sample collection services.
📋 Your Clinical Exome Sequencing at a Glance
| 🔍 Detail | 📋 Info |
|---|---|
| 🩺 Technology | 6,000+ OMIM Disease Gene High-Depth NGS Panel (>150X Depth) |
| 🩸 Sample Type | Peripheral Blood in EDTA / Saliva / Amniotic Fluid |
| 💰 Price Range | ₹18,000 – ₹32,000 (All-inclusive diagnostic fee) |
| 📄 Report TAT | 10 to 14 Days (Includes ACMG variant curation) |
| 🕐 Availability | 24/7 Operations (Home sample collection available) |
| 👩⚕️ Specialist | Dr. Pratibha Patil — Chief Consultant Radiologist |
| 🍽️ Fasting | No Fasting Required (Normal diet maintained) |
| 💳 Insurance | Reimbursement Documentation Support provided |
| 🏅 Accreditation | NABL Accredited · ISO Certified · CAP Compliant |
Clinical Exome Sequencing Quality Standards & Certifications
Clinical Exome Sequencing: Overview
To begin with, High-Depth CES Test is an essential diagnostic genomic assay designed to evaluate protein-coding regions of genes known to cause human genetic disorders. At the same time, experts at Henotic Diagnostics enrich and sequence ~6,000 disease-associated OMIM genes to provide maximum diagnostic yield for symptomatic patients.
Furthermore, comfortable reception lounge providing supportive patient registration for specialized clinical exome testing
What Does Clinical Exome Sequencing Evaluate?
Specifically, High-Depth CES Test identifies single nucleotide variants (SNVs), small insertions/deletions (indels), splicing alterations, and exon-level copy number variations (CNVs) across clinically characterized genes. Consequently, bioinformatic algorithms filter variants against population databases and ACMG clinical guidelines. Furthermore, deep >150X coverage ensures high variant calling confidence. As a result, clinicians identify the exact molecular cause of complex phenotypes. In fact, to review clinical exome guidelines, consult the NIH NHGRI Whole Exome Sequencing Fact Sheet.
Furthermore, deep >150X coverage ensures high variant calling confidence. As a result, clinicians identify the exact molecular cause of complex phenotypes.
What is Clinical Exome Sequencing?
In general, while Whole Exome Sequencing (WES) covers all ~20,000 human coding genes, many uncharacterized genes have no known clinical significance. Essentially, High-Depth CES Test concentrates sequencing power on the ~6,000 genes with well-documented disease phenotypes. Therefore, higher sequencing depth (>150X vs ~100X) is achieved at lower diagnostic costs. Additionally, to read about clinical exome research, examine the Nature Reviews Genetics journal.
Additionally, high-throughput NGS sequencers process 6,000+ OMIM clinical disease genes at >150X mean depth
What Does Clinical Exome Sequencing Check?
Overall, High-Depth CES Test evaluates major clinical disease categories:
Key Clinical Disease Categories Evaluated
In addition, bioinformatic software classifies clinical exome variants according to ACMG diagnostic guidelines
When Is Clinical Exome Sequencing Recommended?
For example, pediatricians, pediatric neurologists, and medical geneticists order High-Depth CES Test for infants or children presenting with unexplained developmental delays, intractable seizures, or complex congenital malformations. In particular, testing is recommended when initial single-gene or panel tests fail to yield a diagnosis. Moreover, it is used for prenatal diagnosis when fetal anomalies are detected on ultrasound. In addition, to review ACMG clinical interpretation guidelines, examine the ACMG Medical Genetics Guidelines.
Moreover, expert clinical geneticists translate CES variant findings into targeted clinical management plans
Clinical Superiority: Focused High-Depth CES vs. Standard Gene Panels
Ideally, clinicians select High-Depth CES Test because narrow targeted gene panels often miss causative mutations in overlapping genetic syndromes. In addition, CES evaluates all 6,000+ disease-causing genes simultaneously at >150X depth, achieving a diagnostic yield of 35% – 45% for complex genetic odysseys. Indeed, to review global rare disease genetics facts, consult the WHO Rare Disease & Genetics Fact Sheet.
Clinical Exome Sequencing Cost Guide
| Clinical CES Service | Approximate Cost (₹) |
|---|---|
| Single Proband Clinical Exome Sequencing (>150X Depth) | First, single proband CES pricing is ₹18,000 – ₹24,000. |
| Trio Clinical Exome Sequencing (Proband + Both Parents) | Second, trio CES pricing is ₹28,000 – ₹32,000. |
| Prenatal Amniotic Fluid Clinical Exome Assay | In addition, prenatal CES pricing is ₹22,000 – ₹28,000. |
| Pre & Post-Test Genetic Counseling Consultation | Finally, expert genetic counseling fee is ₹1,000 – ₹1,500. |
Comparison: Clinical Exome (CES) vs. Whole Exome (WES) vs. Whole Genome (WGS)
On one hand, Whole Genome Sequencing evaluates all coding and non-coding DNA, whereas High-Depth CES Test focuses exclusively on established OMIM disease genes at superior depth and affordable cost. Consequently, CES serves as the ideal first-line diagnostic test for suspected genetic conditions. In fact, review the PubMed High-Depth CES Test Review.
| Feature | Clinical Exome (CES) | Whole Exome (WES) |
|---|---|---|
| Gene Targets | First, ~6,000 OMIM clinical disease genes. | However, all ~20,000 coding genes. |
| Sequencing Depth | Second, ultra-deep >150X mean coverage. | In contrast, standard ~100X coverage. |
| Variant Interpretation Focus | In addition, highly specific to disease phenotypes. | Meanwhile, includes VUS in novelty genes. |
| Affordability | Finally, highly cost-effective (₹18,000+). | Likewise, higher cost (₹24,000+). |
Frequently Asked Questions
What is Clinical Exome Sequencing (CES)? ▼
First, High-Depth CES Test is a targeted Next-Generation Sequencing assay that focuses on 6,000+ genes known to cause human genetic diseases.
What is the difference between Clinical Exome (CES) and Whole Exome (WES)? ▼
In addition, CES targets ~6,000 disease-associated genes at higher sequencing depth (>150X), whereas WES screens all 20,000 coding genes.
What sample is required for Clinical Exome Sequencing? ▼
Generally, peripheral blood in EDTA tubes, saliva, or prenatal amniotic fluid are accepted.
Do I need to fast before Clinical Exome Sequencing? ▼
Because CES evaluates constitutional genomic DNA, fasting is unnecessary.
How long until I receive diagnostic CES results? ▼
Fortunately, detailed clinical bioinformatic CES reports are delivered within 10 to 14 business days.
What is the cost of Clinical Exome Sequencing? ▼
Overall, high-precision High-Depth CES Test ranges from ₹18,000 to ₹32,000 all-inclusive.
Quick Appointment Booking
Schedule your Clinical Exome Sequencing with accredited genomic experts.
Call: 088793 27184 WhatsApp BookingTest Summary
Reporting Clinical Genomic Specialist
Dr. Pratibha Patil
Chief Consultant Radiologist & Clinical Diagnostics Specialist
MBBS, MD (Radiodiagnosis) · 15+ Years Clinical Experience
Furthermore, your Clinical Exome Sequencing data is evaluated by accredited medical geneticists and bioinformaticians. Consequently, comprehensive reports empower physicians with clear OMIM disease variant interpretation.
Our Accreditations & Quality Standards
Certified excellence ensuring clinical exome depth, bioinformatic variant calling accuracy, and patient privacy.
What Our Patients Say
Real feedback from patients who completed Clinical Exome Sequencing with us.
“Clinical Exome Sequencing identified a pathogenic KCNQ2 mutation causing my daughter’s infant seizures. Furthermore, targeted antiepileptic therapy stopped the fits completely!”
– Ramesh G.
Verified Patient Review“Extremely clear clinical exome report with >150X depth coverage. In addition, post-test genetic counseling helped us understand carrier risks.”
– Shalini K.
Verified Patient Review“Top-tier NABL accredited molecular diagnostic center. Henotic Diagnostics is our trusted partner for clinical exome diagnostic referrals.”
– Dr. Manish A.
Verified Pediatric Neurologist ReviewRelevant Diagnostic Genomic & Genetic Services
Corporate Booking Office & Location
If you require Clinical Exome Sequencing for inherited disease, epilepsy, metabolic, or rare genetic evaluation, 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, Kharghar, Navi Mumbai, Panvel, Maharashtra 410210
Phone: 088793 27184 | Hours: Open 24 Hours