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TARS2 Gene Combined oxidative phosphorylation deficiency type 21 NGS Genetic Test

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TARS2 Gene Combined oxidative phosphorylation deficiency type 21 NGS Genetic Test

Short Name: TARS2 COXPD Type 21 NGS Test

Also known as: COXPD Type 21, TARS2 Gene Disorder

TARS2 Gene Combined oxidative phosphorylation deficiency type 21 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, Extracted DNA, One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose TARS2 gene mutations causing Combined Oxidative Phosphorylation Deficiency Type 21, enabling accurate identification, management, and genetic counseling for affected individuals and families.

Test Code
4656
Price
₹20,000
Sample Type
Blood, Extracted DNA, One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Clinical history review and genetic counseling session recommended to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 21.

Step 2

Laboratory Analysis

Your sample is analyzed using Next-Generation Sequencing (NGS) in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide detailed clinical history and undergo genetic counseling session.
2
During the Test:Blood sample collection via venipuncture or FTA card.
3
After the Test:Sample sent to laboratory for NGS analysis; results available in 3 to 4 weeks.

About This Test

Who Should Get This Test

To diagnose TARS2 gene mutations causing Combined Oxidative Phosphorylation Deficiency Type 21, enabling accurate identification, management, and genetic counseling for affected individuals and families.

How to Prepare

  • Collect blood sample in EDTA tube or use FTA card for one drop blood.

Doctor's Notes

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

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, One drop Blood on FTA Card

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the TARS2 gene. Positive results confirm a diagnosis of COXPD Type 21, while negative results may require further clinical evaluation.
📊

Positive for pathogenic variant

Confirms diagnosis of TARS2 Gene COXPD Type 21; genetic counseling and management recommended.

📊

Negative for pathogenic variant

No mutations detected in TARS2 gene; consider other genetic or metabolic causes if symptoms persist.

📊

Variant of uncertain significance

Further testing and clinical correlation advised; genetic counseling recommended.

⚠️ When to Consult a Doctor:

If symptoms such as weakness, developmental delay, ataxia, dysphagia, respiratory issues, visual or hearing impairments, or seizures are present, consult a geneticist or neurologist for evaluation and possible testing.

Risks & Considerations

  • Minor bruising at puncture site
  • Rare infection risk

Frequently Asked Questions

What is TARS2 Gene COXPD Type 21?
It is a rare autosomal recessive mitochondrial disorder caused by mutations in the TARS2 gene, affecting energy production and leading to neurological and muscular symptoms.
What are the symptoms of this disorder?
Symptoms include weakness, fatigue, developmental delay, intellectual disability, ataxia, dysphagia, respiratory problems, visual and hearing impairments, and seizures.
How is the NGS Genetic Test performed?
The test uses Next-Generation Sequencing to analyze the entire TARS2 gene from a blood or DNA sample, detecting mutations with high accuracy.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card can be used.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What is the cost of the test?
The test costs INR 20000, with free home sample collection available across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
What does a positive result mean?
A positive result confirms the presence of pathogenic TARS2 gene mutations, diagnosing COXPD Type 21, and guiding management and genetic counseling.
Can this test be used for prenatal diagnosis?
This test is typically for postnatal diagnosis; for prenatal testing, consult a genetic counselor for appropriate options.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as minor bruising or rare infection.
How accurate is the NGS Genetic Test?
NGS technology provides high accuracy for detecting gene mutations, but results should be interpreted in clinical context.
What should I do after receiving the test results?
Consult a geneticist or healthcare provider for interpretation, management plans, and genetic counseling based on the results.
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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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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