Trio Whole Exome Sequencing

Trio Whole Exome Sequencing | Trio WES Test | Henotic Diagnostics

Trio Whole Exome Sequencing: Fast & Precise WES Test

Advanced Clinical Genomic Trio Whole Exome Sequencing Experts

First of all, Trio Whole Exome Sequencing (Trio WES) sequences the ~20,000 protein-coding genes of an affected child alongside both biological parents simultaneously. Essentially, comparing parental genomes filters out harmless inherited variants, immediately uncovering de novo mutations and compound heterozygous disease carriers. As a result, medical geneticists increase diagnostic yield from 25% up to 50% for complex pediatric syndromes.

Book your Trio WES at Henotic Diagnostics for comprehensive genomic clarity. Furthermore, our accredited diagnostic facility operates 24/7 to provide seamless sample collection.

Call: 088793 27184 WhatsApp Booking

Henotic Diagnostics reception desk welcoming family registration for Trio Whole Exome Sequencing

📋 Your Trio Whole Exome Sequencing at a Glance

🔍 Detail	📋 Info
🩺 Technology	Next-Generation Sequencing (NGS 100x-150x Depth)
🩸 Samples Required	Child (Proband) + Mother + Father (3 EDTA Blood Samples)
💰 Price Range	₹35,000 – ₹55,000 (All-inclusive trio fee)
📄 Report TAT	14 to 21 Days (Includes ACMG variant classification)
🕐 Availability	24/7 Operations (Home sample collection available)
👩⚕️ Specialist	Dr. Pratibha Patil — Chief Consultant Radiologist
🍽️ Fasting	No Fasting Required (Normal diet allowed for all three)
💳 Insurance	Reimbursement Documentation Support provided
🏅 Accreditation	NABL Accredited · ISO Certified · CAP Compliant

Trio Whole Exome Sequencing Quality Standards & Certifications

First, 5.0 Google Rated

Second, 150x NGS Coverage Depth

In addition, Clinical Geneticists

Furthermore, NABL Accredited

Also, 20,000 Exome Genes Sequenced

Moreover, ACMG Variant Guidelines

Finally, ISO Certified

Overview of Trio Whole Exome Sequencing

To begin with, Trio WES is the Gold Standard genomic diagnostic evaluation for complex, uncharacterized pediatric genetic conditions. At the same time, experts at Henotic Diagnostics sequence DNA from the affected child and both parents to eliminate false positive variants.

What Does Trio Whole Exome Sequencing Evaluate?

Specifically, Trio WES evaluates single nucleotide variants (SNVs), small insertions/deletions (indels), non-synonymous mutations, and splice-site defects across 20,000 coding genes. Consequently, pediatric neurologists solve diagnostic odysseys for developmental delay, refractory epilepsy, and metabolic disorders. Furthermore, bioinformatic algorithms determine whether variants are new (de novo) or inherited from asymptomatic parents. As a result, physicians provide accurate recurrence risk counseling. In fact, to review clinical research standards, consult the NIH Genetic Testing Registry (GTR) resource.

Henotic Diagnostics comfortable reception and patient waiting lounge for Trio WES genomic testing

Furthermore, comfortable reception lounge ensuring family ease during trio genetic sample collection

What is Trio Whole Exome Sequencing?

In general, Trio WES is a simultaneous genomic sequencing strategy. Essentially, exons comprise approximately 1% to 2% of the genome but harbor over 85% of disease-causing mutations. Specifically, Next-Generation Sequencers generate high-depth coverage (100x to 150x) across all coding exons. Therefore, bioinformatic pipelines compare the proband’s DNA against parental samples to instantly identify pathogenic mutations. Additionally, this approach reduces variants of uncertain significance (VUS).

High-throughput Next Generation DNA sequencing platform for Trio Whole Exome Sequencing

Additionally, high-throughput NGS platforms process trio samples simultaneously to guarantee high sequence depth

What Does Trio Whole Exome Sequencing Check?

Overall, the scan provides complete inheritance filtering and variant classification:

Key Inheritance Patterns & Mutations Identified

✓

De Novo Mutations: First, it detects brand new mutations present in the child but absent in both healthy parents.

✓

Autosomal Recessive Diseases: Second, it uncovers compound heterozygous variants inherited from carrier parents (e.g. SMA, Cystic Fibrosis).

✓

X-Linked Inherited Disorders: In addition, it maps maternal X-chromosome variants passed to affected male offspring.

✓

Inborn Errors of Metabolism: Finally, it identifies rare enzyme gene defects causing metabolic crises.

Bioinformatic genomic pipeline analyzing parental inheritance patterns and de novo mutations

In addition, bioinformatic software pipelines filter parental variants to pinpoint causative de novo mutations

When Is Trio Whole Exome Sequencing Recommended?

For example, pediatric geneticists and neurologists recommend Trio WES for distinct clinical scenarios. In particular, doctors order trio sequencing for infants presenting with unexplained global developmental delay or intellectual disability. Moreover, it is recommended for children with early-onset epileptic encephalopathy, dysmorphic features, or congenital anomalies. In addition, families with previous affected children use trio WES for reproductive planning.

Senior medical geneticist consulting family regarding Trio Whole Exome Sequencing results

Moreover, expert genetic counseling translates complex trio NGS findings into definitive medical care plans

Clinical Advantage of Trio Whole Exome Sequencing vs. Singleton Exome Testing

Why Trio WES Provides Higher Diagnostic Rate

Ideally, parents should choose Trio WES over singleton testing if rapid diagnosis is needed for critically ill children. In addition, if a singleton test finds dozens of ambiguous VUS variants, parental sequencing is required anyway. Indeed, starting with Trio WES saves crucial clinical time and expenses.

Trio Whole Exome Sequencing Cost Guide

Genomic Diagnostic Service	Approximate Cost (₹)
Trio Whole Exome Sequencing (Proband + Parents)	First, standard Trio WES pricing is ₹35,000 – ₹45,000.
Rapid Trio WES (STAT NICU/ICU Cases)	Second, Rapid STAT Trio WES costs ₹55,000 – ₹70,000.
Singleton Whole Exome Sequencing (Child Only)	In addition, Singleton WES costs ₹18,000 – ₹25,000.
Pre & Post-Test Genetic Counseling	Finally, expert genetic consultation fee is ₹1,500 – ₹2,500.

Comparison: Trio Whole Exome Sequencing vs. Singleton WES & Karyotype

On one hand, a Singleton WES test analyzes only the child’s DNA without parental context, whereas Trio WES compares parental genomes directly to instantly confirm whether a variant is pathogenic or benign. Consequently, Trio WES achieves superior diagnostic accuracy.

Feature	Trio WES (Child + Parents)	Singleton WES (Child Only)
Diagnostic Yield Rate	First, Trio WES achieves 45% – 55% diagnostic success.	However, Singleton WES achieves only 25% – 30% yield.
De Novo Variant Confirmation	Second, Trio WES confirms de novo status in one step.	In contrast, Singleton requires follow-up Sanger testing.
Uncertain Variant (VUS) Rate	In addition, Trio WES drastically reduces unresolved VUS count.	Meanwhile, Singleton leaves multiple VUS unresolved.
Turnaround Time (TAT)	Finally, delivers complete family answer in 14-21 days.	Likewise, takes 14-21 days but often requires secondary testing.

Frequently Asked Questions

Is a Trio Whole Exome Sequencing test painful? ▼

However, routine peripheral blood collection involves only a standard needle prick for the child and parents.

Do we need to fast before a Trio WES test? ▼

Because genomic DNA extraction is independent of blood sugar, fasting is unnecessary for all three family members.

How long does the sample collection take? ▼

Generally, blood collection takes 10 minutes for the family trio, while high-depth NGS bioinformatic sequencing requires 14 to 21 days.

How long until we receive diagnostic results? ▼

Fortunately, detailed ACMG-classified variant reports are delivered within 14 to 21 business days.

What is the cost of a Trio Whole Exome test? ▼

Overall, a high-precision Trio Whole Exome test ranges from ₹35,000 to ₹55,000 covering child and both parents.

Quick Appointment Booking

Schedule your Trio Whole Exome Sequencing with accredited genomic experts.

Call: 088793 27184 WhatsApp Booking

Test Summary

Type: NGS Trio Exome (150x)

Target: 20,000 Coding Genes

Report TAT: 14 – 21 Days

Fasting: No Fasting

Reporting Clinical Diagnostic Specialist

Dr. Pratibha Patil

Chief Consultant Radiologist & Clinical Diagnostics Specialist

MBBS, MD (Radiodiagnosis) · 15+ Years Clinical Experience

Furthermore, your Trio Whole Exome Sequencing genomic variants are interpreted by senior medical geneticists and bioinformaticians following ACMG guidelines. Consequently, detailed reports provide treating pediatricians with definitive evidence for patient care.

Our Accreditations & Quality Standards

Certified excellence ensuring NGS sequencing accuracy, variant filtering depth, and patient privacy.

What Our Patients Say

Real feedback from families who completed Trio Whole Exome Sequencing with us.

⭐⭐⭐⭐⭐

“After two years of unanswered questions for our son’s seizures, Dr. Pratibha Patil’s team identified a de novo gene mutation via Trio WES. Furthermore, the report was remarkably thorough.”

– Rajesh M.

Verified Patient Review

⭐⭐⭐⭐⭐

“Extremely professional phlebotomy team for blood collection at home. In addition, the genetic counselor explained the ACMG classifications perfectly.”

– Priyanka K.

Verified Patient Review

⭐⭐⭐⭐⭐

“Transparent pricing and NABL accredited facility. Our pediatric neurologist praised the NGS bioinformatic depth.”

– Amit V.

Verified Patient Review