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Exome Plus Sequencing | Enhanced WES & Promoter Variant Test | Henotic Diagnostics
Exome Plus Sequencing: Fast & Precise Enhanced Exome DNA Test
Advanced Clinical Exome Plus Sequencing & Genomic Experts
Clinical Overview & Diagnostic Indications
First of all, Exome Plus Sequencing is an enhanced Next-Generation Sequencing test that expands beyond standard Whole Exome Sequencing. Essentially, it sequences all 20,000+ protein-coding genes alongside disease-associated promoter regions, deep intronic splice sites, copy number variants (CNVs), and the mitochondrial genome (mtDNA) at 100X+ depth with 99.9% diagnostic accuracy. Consequently, medical geneticists identify pathogenic variants in complex rare disorders that standard exomes miss.
Furthermore, book your Enhanced Exome Sequencing at Henotic Diagnostics for comprehensive diagnostic clarity. In addition, our accredited genomic laboratory operates 24/7 with convenient home blood sample collection services.
Exome Plus Sequencing Quality Standards & Certifications
First, 5.0 Google Rated
Second, 20,000+ Coding Genes + Promoters
In addition, Full Mitochondrial DNA Analysis
Furthermore, NABL Accredited
Also, High-Resolution CNV Calling
Moreover, Deep Intronic Splice Site Capture
Finally, ISO Certified
Overview of Exome Plus Sequencing
To begin with, Enhanced Exome Sequencing represents the next evolution in clinical exome diagnostics. At the same time, experts at Henotic Diagnostics utilize enhanced hybrid-capture probes that target non-coding regulatory sequences and mitochondrial DNA alongside canonical exons.
Furthermore, comfortable reception lounge ensuring a smooth, supportive sample registration process
What Does Exome Plus Sequencing Evaluate?
Specifically, Enhanced Exome Sequencing screens single nucleotide variants (SNVs), small insertions/deletions (indels), copy number variations (CNVs), and non-coding promoter mutations across 20,000+ genes. Consequently, bioinformatic curation maps pathogenic variants according to ACMG standards. Furthermore, inclusion of mitochondrial genome analysis diagnoses neuromuscular mitochondrial disorders. As a result, clinicians establish definitive genetic diagnoses. In fact, to review human exome sequencing principles, consult the NIH NHGRI Genome Sequencing Fact Sheet.
Furthermore, advanced NGS Solutiion ensuring a smooth, sample process and comprehensive ACMG reports
What is Exome Plus Sequencing?
In general, standard Whole Exome Sequencing covers only ~1.5% of the human genome (coding exons). Essentially, Enhanced Exome Sequencing enhances capture efficiency by adding probes for deep intronic splice sites, 5′ and 3′ untranslated regions (UTRs), promoter regions, and full mtDNA genome. Therefore, it delivers 15-20% higher diagnostic yield for rare undiagnosed genetic diseases. Additionally, to read about enhanced exome developments, examine the Nature Genetics journal.
Additionally, high-throughput NGS sequencers process enhanced exome libraries with 99.9% analytical sensitivity
What Does Exome Plus Sequencing Check?
Overall, clinical Exome Plus testing screens across comprehensive genomic targets:
Key Genomic Targets & Variant Classes Evaluated
✓
20,000+ Coding Exons (Coding Genome): First, detects missense, nonsense, frameshift, and indels in all protein-coding genes.
Full Mitochondrial Genome (mtDNA): In addition, detects mitochondrial heteroplasmy and maternal inheritance mutations. Review the ClinVar NCBI variant database.
✓
Copy Number Variations (CNVs): Finally, identifies microdeletions and microduplications across disease-susceptible loci.
In addition, bioinformatic software maps promoter mutations, deep intronic splice sites, and CNV breakpoints
When Is Exome Plus Sequencing Recommended?
For example, clinical geneticists, pediatricians, and neurologists order Enhanced Exome Sequencing for complex, undiagnosed, or atypical rare genetic conditions. In particular, testing is recommended for neurodevelopmental delay, unexplained seizures, dysmorphic syndromes, congenital metabolic defects, and hereditary cardiomyopathy. Moreover, it is used when prior targeted panels or standard exomes yield negative results. In addition, to review medical genetics standards, examine the ACMG Medical Genetics guidelines.
Moreover, expert genetic consultation translates complex Exome Plus variant findings into actionable care plans
Clinical Advantage: Exome Plus vs. Standard Exome Sequencing (WES)
Why Exome Plus Captures Non-Coding Variants Missed by Standard Exomes
Ideally, clinicians should order Enhanced Exome Sequencing because standard exomes fail to capture non-coding promoter mutations, deep intronic splice variants, and mitochondrial DNA. In addition, Exome Plus incorporates boosted probe density across 1,500+ disease promoter regions to solve previously uninformative cases. Indeed, to review global rare disease facts, consult the WHO Rare Disease & Diagnostics Fact Sheet.
Exome Plus Sequencing Cost Guide
Clinical Exome Service
Approximate Cost (₹)
Exome Plus Proband Panel (WES + Promoters + mtDNA)
First, proband Exome Plus pricing is ₹25,000 – ₹32,000.
Trio Exome Plus Panel (Proband + Both Parents)
Second, comprehensive Trio Exome Plus costs ₹36,000 – ₹42,000.
Home Sample Collection Kit Delivery
In addition, home phlebotomy service is complimentary.
Pre & Post-Test Genetic Counseling Consultation
Finally, expert genetic counseling fee is ₹1,000 – ₹1,500.
Comparison: Exome Plus vs. Standard Whole Exome (WES) vs. Whole Genome (WGS)
On one hand, standard WES sequences coding exons only, while Whole Genome (WGS) sequences all 3 billion base pairs at high cost. Consequently, Exome Plus provides the optimal balance by boosting coverage over critical promoters, mtDNA, and splice sites at affordable pricing. In fact, review the PubMed Clinical Exome Plus Review.
Feature
Exome Plus Sequencing
Standard Whole Exome (WES)
Whole Genome (WGS)
Genomic Coverage
First, 20,000+ exons + Promoters + mtDNA.
However, coding exons only.
3 Billion base pairs (100%).
Mitochondrial DNA
Second, 100% full mtDNA heteroplasmy.
In contrast, zero mtDNA coverage.
Full mtDNA coverage.
Promoter Mutations
In addition, boosted promoter probes.
Meanwhile, zero promoter probes.
Whole genome non-coding.
Diagnostic Yield
Finally, high yield (45-55%).
Likewise, standard yield (30-40%).
Maximum yield (50-60%).
Frequently Asked Questions
Is Exome Plus Sequencing painful?▼
However, routine peripheral blood draw involves only a mild needle prick.
Do I need to fast before Exome Plus Sequencing?▼
Because genomic DNA sequencing is independent of blood glucose, fasting is unnecessary.
What sample is required for Exome Plus Sequencing?▼
Generally, 3-5 mL of peripheral blood in EDTA tubes or saliva DNA kits are accepted.
How long until I receive diagnostic Exome Plus results?▼
Fortunately, detailed clinical ACMG variant reports are delivered within 10 to 14 business days.
What is the cost of Exome Plus Sequencing?▼
Overall, high-precision Enhanced Exome Sequencing ranges from ₹25,000 to ₹42,000 all-inclusive.
Quick Appointment Booking
Schedule your Exome Plus Sequencing with accredited genomic experts.
MBBS, MD (Genetics) · 15+ Years Clinical Experience
Furthermore, your Exome Plus Sequencing data is curated by accredited molecular geneticists and bioinformaticians. Consequently, comprehensive ACMG reports empower physicians with definitive diagnostic insights for rare diseases.
Real feedback from patients who completed Exome Plus Sequencing with us.
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“After standard exome sequencing came back negative, Exome Plus identified a pathogenic promoter variant in my son’s gene. Furthermore, targeted treatment began!”
– Meera T.
Verified Patient Review
⭐⭐⭐⭐⭐
“The inclusion of mitochondrial DNA sequencing in the Exome Plus panel saved us thousands. In addition, home phlebotomy was quick and comfortable.”
– Rajesh V.
Verified Patient Review
⭐⭐⭐⭐⭐
“Premier NABL laboratory exome quality. Henotic Diagnostics provides unmatched diagnostic yield for complex medical genetic cases.”
If you require Exome Plus Sequencing for enhanced coding and non-coding promoter variant screening, 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
You can book your Exome Plus 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 Exome Plus Sequencing where applicable. Please carry your insurance card and a valid ID for seamless processing.
At Henotic Diagnostics Navi Mumbai, most Exome Plus 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 Exome Plus 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 Exome Plus Sequencing performed at our facility meets the highest national and international quality benchmarks for accuracy, safety, and reliability.
