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DNA Labs India

Whole Exome+ Mitochondrial Genome Sequencing Test

DNA Labs India | ISO 9001:2015 Certified

Whole Exome+ Mitochondrial Genome Sequencing Test

Short Name: WES + Mito Genome

Also known as: WES + Mitochondrial Genome, Exome Sequencing with Mitochondrial DNA Analysis

Whole Exome+ Mitochondrial Genome Sequencing Test test available at DNA Labs India for ₹44,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

Molecular GeneticsAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of Whole Exome + Mitochondrial Genome Sequencing is to identify genetic variants that may be responsible for a patient's symptoms or disease. It is particularly useful when a specific genetic condition is suspected but the clinical presentation is broad or atypical. The test can detect mutations in nuclear genes (exome) and mitochondrial genes, enabling diagnosis of conditions such as developmental delay, intellectual disability, congenital anomalies, metabolic disorders, neuromuscular diseases, and mitochondrial disorders. Additionally, it can reveal carrier status for recessive conditions and provide information for reproductive planning. Early and accurate diagnosis can lead to better management, targeted therapies, and informed family counseling.

Test Code
6317
CPT Code
81415, 81425
ICD Code
Z13.89
Price
₹44,000
Sample Type
Blood
Result Time
3 to 4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required. However, please provide clinical details and any relevant medical history. Inform the lab if you have had a blood transfusion or bone marrow transplant recently.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in your arm. The procedure is quick and routine.

Step 3

Report Delivery

You can resume normal activities immediately. No restrictions.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:No special preparation. However, a clinical consultation is recommended to discuss the benefits, risks, and limitations of the test.
2
During the Test:A blood sample is collected. The procedure takes about 5 minutes.
3
After the Test:You can leave immediately. Results will be available in 3-4 weeks. A genetic counselor will contact you to discuss the results.

About This Test

Who Should Get This Test

The purpose of Whole Exome + Mitochondrial Genome Sequencing is to identify genetic variants that may be responsible for a patient's symptoms or disease. It is particularly useful when a specific genetic condition is suspected but the clinical presentation is broad or atypical. The test can detect mutations in nuclear genes (exome) and mitochondrial genes, enabling diagnosis of conditions such as developmental delay, intellectual disability, congenital anomalies, metabolic disorders, neuromuscular diseases, and mitochondrial disorders. Additionally, it can reveal carrier status for recessive conditions and provide information for reproductive planning. Early and accurate diagnosis can lead to better management, targeted therapies, and informed family counseling.

How to Prepare

  • No fasting required
  • Avoid alcohol for 24 hours prior to sample collection
  • Inform lab about any recent transfusions or transplants

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Whole exome sequencing combined with mitochondrial genome analysis is a powerful diagnostic tool for patients with suspected genetic disorders, especially when clinical presentation is heterogeneous or non-specific. Early diagnosis can guide management and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample Volume5 mL
ContainerEDTA Vacutainer
Collection MethodVenipuncture

Sample Stability

Room temperature
Refrigerated (2-8°C)
Frozen (-20°C)
Sample Rejection Criteria:
  • Hemolyzed sample
  • Clotted sample
  • Insufficient quantity
  • Improper labeling
  • Sample received after prolonged transit time without proper storage

Understanding Your Results

The results of Whole Exome + Mitochondrial Genome Sequencing are interpreted by clinical geneticists and molecular biologists. Variants are classified according to ACMG guidelines. A positive result indicates a pathogenic or likely pathogenic variant that explains the clinical presentation. A negative result does not rule out a genetic cause, and a VUS requires further investigation.
📊

Positive (Pathogenic/Likely Pathogenic variant)

Confirms diagnosis; enables targeted management and family testing.

📊

Negative (No pathogenic variants)

Does not exclude genetic etiology; consider other tests or re-analysis.

📊

Variant of Uncertain Significance (VUS)

Insufficient evidence to determine pathogenicity; further segregation or functional studies may be recommended.

📊

Carrier status

Indicates presence of one recessive allele; relevant for reproductive counseling.

⚠️ When to Consult a Doctor:

Consult a genetic counselor or physician if you have a family history of genetic disorders, if you have unexplained symptoms that may be genetic, or if you are planning a pregnancy and want carrier screening. Also, if you receive a positive or uncertain result, seek professional guidance.

Limitations

  • ⚠Does not detect all types of genetic variants (e.g., large deletions, repeat expansions, epigenetic changes)
  • ⚠Variant of uncertain significance (VUS) may be reported; further testing may be needed
  • ⚠Not a substitute for targeted testing if a specific condition is strongly suspected
  • ⚠Mitochondrial heteroplasmy may not be fully quantified
  • ⚠Negative result does not exclude a genetic cause

Risks & Considerations

  • ●Bruising or bleeding at the puncture site
  • ●Infection (rare)
  • ●Psychological impact of results
  • ●Potential for incidental findings

Interfering Factors

  • ●Contamination of sample with foreign DNA
  • ●Low DNA quality or quantity
  • ●Recent blood transfusion (within 2 weeks) may dilute patient's DNA
  • ●Bone marrow transplantation can affect results

Compare With Similar Tests

TestWhole Exome+ Mitochondrial Genome SequencingWhole Genome Sequencing (WGS)Targeted Gene PanelChromosomal Microarray (CMA)
ComparisonWhole Exome+ Mitochondrial Genome Sequencing

Frequently Asked Questions

What is the cost of Whole Exome + Mitochondrial Genome Sequencing in India?
The cost is Rs 44000 at DNA Labs India, which includes the test, genetic counseling, and free home sample collection.
What is the difference between whole exome sequencing and whole genome sequencing?
Whole exome sequencing (WES) analyzes only the protein-coding regions (exons) of genes, while whole genome sequencing (WGS) covers the entire genome including non-coding regions. WES is more cost-effective and sufficient for most diagnostic purposes.
How is the sample collected for this test?
A blood sample is collected from a vein in your arm. The sample is sent to the laboratory for analysis.
Do I need to fast before the test?
No, fasting is not required for this test.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after the sample is received.
What kind of genetic disorders can this test detect?
It can detect mutations associated with developmental delay, intellectual disability, congenital anomalies, metabolic disorders, mitochondrial diseases, and many other genetic conditions.
Is home sample collection available?
Yes, we offer free home sample collection for online bookings across major cities in India.
Will my insurance cover the cost?
Coverage depends on your insurance policy. Some plans may cover genetic testing if deemed medically necessary. Please check with your provider.
What is a variant of uncertain significance (VUS)?
A VUS is a genetic change whose impact on health is not yet known. It may require further testing or family studies to determine its significance.
Can this test determine if I am a carrier of a genetic disorder?
Yes, the test can identify carrier status for recessive conditions, which is useful for family planning.
Are there any risks associated with the test?
The blood draw carries minimal risks such as bruising or infection. The main risks are psychological and related to the interpretation of results.
What should I do if my result is positive?
You should consult with a genetic counselor or physician to understand the implications and discuss management options.
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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