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NGS Gen Whole Exome Sequencing Trio Test

DNA Labs India | ISO 9001:2015 Certified

NGS Gen Whole Exome Sequencing Trio Test

Short Name: Whole Exome Sequencing Trio Test

Also known as: Whole Exome Sequencing Trio Analysis, WES Trio Test, NGS WES Trio

NGS Gen Whole Exome Sequencing Trio Test test available at DNA Labs India for ₹72,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in 6 weeks. Free home collection in 300+ cities across India.

Genetic TestingAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of the NGS Whole Exome Sequencing Trio Test is to perform whole exome sequencing on the proband and both parents to identify genetic variants in over 21,000 genes that may be associated with genetic disorders, enabling accurate diagnosis and personalized management.

Test Code
1351
Price
₹72,000
Sample Type
Blood
Result Time
6 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Ensure the mandatory Whole Exome Sequencing Trio Consent Form (Form 43) is duly filled. No fasting is required. Avoid blood thinners unless prescribed.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture from each participant (child and both parents) using standard aseptic techniques.

Step 3

Report Delivery

Label samples correctly and transport them to the lab at room temperature within 6 hours or refrigerated within 72 hours. Reports will be available online in 6 weeks.

Timeline: 6 weeks

Patient Instructions

1
Before the Test:Complete consent form, no special preparation needed.
2
During the Test:Blood draw takes approximately 10-15 minutes per individual.
3
After the Test:Sample processing and analysis in the lab; results available in 6 weeks.

About This Test

Who Should Get This Test

The purpose of the NGS Whole Exome Sequencing Trio Test is to perform whole exome sequencing on the proband and both parents to identify genetic variants in over 21,000 genes that may be associated with genetic disorders, enabling accurate diagnosis and personalized management.

How to Prepare

  • Collect 5 ml blood in an EDTA tube for each individual
  • Ensure proper labeling with patient details and relationship
  • Transport samples at room temperature (6 hours) or refrigerated (72 hours)
  • Include the signed consent form with samples

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Trio testing significantly increases diagnostic yield by identifying de novo variants in the child not present in parents, aiding in accurate diagnosis and personalized management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample Volume5 ml
ContainerBlood EDTA Tube
Collection MethodVenipuncture

Sample Stability

Room Temperature6 hours
Refrigerated (2-8°C)72 hours
FrozenNot applicable
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Incorrect or insufficient sample volume
  • Missing consent form
  • Improperly labeled or contaminated samples

Understanding Your Results

Results from the NGS Whole Exome Sequencing Trio Test are interpreted by geneticists to identify pathogenic or likely pathogenic variants. The trio analysis helps determine if variants are inherited or de novo, aiding in diagnosis and risk assessment.
Pathogenic variant: Likely causes the genetic disorder
Likely pathogenic: Strong evidence for disease association
Variant of uncertain significance (VUS): Further investigation needed
Benign or likely benign: Not associated with disease
De novo variant: Present in child only, may indicate new mutation
⚠️ When to Consult a Doctor:

Consult a geneticist or referring specialist if symptoms persist after testing, for family planning advice, or to discuss variants of uncertain significance. Immediate consultation is advised if the test identifies a pathogenic variant.

Limitations

  • ⚠May not detect all genetic variants, such as deep intronic or regulatory region changes
  • ⚠Limited ability to identify structural variants or repeats
  • ⚠Variant interpretation may be uncertain for some findings
  • ⚠Not suitable for prenatal diagnosis or carrier screening in all cases

Risks & Considerations

  • ●Minor bruising or discomfort at the needle site
  • ●Small risk of infection at collection site
  • ●Emotional impact of potential findings

Interfering Factors

  • ●Poor sample quality (e.g., hemolyzed or clotted blood)
  • ●Insufficient DNA quantity or quality
  • ●Contamination during sample handling
  • ●Technical limitations of sequencing technology

Compare With Similar Tests

TestNGS Gen Whole Exome Sequencing Trio TestWhole Exome Sequencing SingleWhole Genome Sequencing TrioChromosomal MicroarraySingle Gene Sequencing
ComparisonNGS Gen Whole Exome Sequencing Trio Test

Frequently Asked Questions

What is the NGS Whole Exome Sequencing Trio Test?
It is a genetic test that analyzes the protein-coding regions of the genome (exome) for a child and both parents using next-generation sequencing to identify variants linked to genetic disorders.
Why is trio testing recommended?
Trio testing increases diagnostic accuracy by identifying de novo variants in the child and understanding inheritance patterns from parents.
What symptoms may indicate the need for this test?
Symptoms include developmental delays, cognitive impairment, unexplained neurological or gastrointestinal issues, growth problems, muscle weakness, or sensory deficits.
How much does the test cost?
The test costs INR 72,000, which includes analysis for all three individuals.
Is home sample collection available?
Yes, free home sample collection is available in many cities across India when booked online.
What is the turnaround time for results?
Results are typically available within 6 weeks from sample receipt.
What samples are required?
5 ml of blood in an EDTA tube from each participant (child and both parents).
Is fasting required before the test?
No fasting is required, but a signed consent form (Form 43) is mandatory.
What are the limitations of the test?
It may not detect all genetic variants, such as those in non-coding regions or structural abnormalities, and some findings may be uncertain.
How are results interpreted?
Results are classified based on ACMG guidelines as pathogenic, likely pathogenic, variant of uncertain significance, or benign.
Can the test diagnose all genetic disorders?
It can diagnose a wide range but not all genetic disorders, as some may involve genes outside the exome or other mechanisms.
What should I do after receiving results?
Consult a geneticist or your referring specialist to discuss findings, implications, and potential next steps such as management or family planning.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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