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DNA Labs India

COX15 Gene Leigh syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

COX15 Gene Leigh syndrome NGS Genetic Test

Short Name: COX15 NGS Genetic Test

Also known as: COX15 Gene Leigh Syndrome NGS Genetic Test, COX15 Mutation Analysis, COX15-Related Leigh Syndrome NGS Test

COX15 Gene Leigh syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are generally available within 3 to 4 weeks after the sample is received at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to identify disease-causing pathogenic variants in the COX15 gene using next-generation sequencing. This supports a molecular diagnosis of COX15-related Leigh syndrome, helps guide clinical management, and provides information for genetic counselling and family planning.

Test Code
4166
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are generally available within 3 to 4 weeks after the sample is received at the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

A genetic counselling session and clinical history review are recommended before testing. Please bring any relevant imaging, metabolic reports, and family history details. No fasting is required.

Method: Venipuncture or FTA card blood spot

Step 2

Laboratory Analysis

A small blood sample will be collected from a vein, or a few drops of blood may be collected on an FTA card. The procedure is quick and routine.

Step 3

Report Delivery

No special precautions are required after sample collection. You can resume normal activities immediately after the sample is taken.

Timeline: Reports are generally available within 3 to 4 weeks after the sample is received at the laboratory.

Patient Instructions

1
Before the Test:Attend a genetic counselling session and provide complete clinical and family history. No fasting or special preparation is required.
2
During the Test:A small blood sample is collected, or an FTA card blood spot is prepared as instructed.
3
After the Test:No restrictions. Continue all normal diet and activities after sample collection.

About This Test

Who Should Get This Test

The purpose of this test is to identify disease-causing pathogenic variants in the COX15 gene using next-generation sequencing. This supports a molecular diagnosis of COX15-related Leigh syndrome, helps guide clinical management, and provides information for genetic counselling and family planning.

How to Prepare

  • Submit the completed genetic counselling and consent documents.
  • Provide accurate clinical and family history details at the time of booking.
  • Label the blood sample or FTA card clearly with the patient's name and unique ID.
  • Ensure extracted DNA, if provided, is labelled with the source and date of extraction.

Doctor's Notes

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

"COX15-related Leigh syndrome is a complex mitochondrial disorder. Genetic counselling is essential to interpret the result in the context of the family history and clinical presentation."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA card blood spot
Sample Rejection Criteria:
  • Clotted or haemolysed blood sample may be rejected.
  • Insufficient sample quantity may require a repeat collection.
  • Mislabelled samples or samples without matching requisition forms may not be processed.
  • Expired or contaminated FTA cards may be rejected.

Understanding Your Results

This is a diagnostic genetic test. Interpretation should be performed by a clinical geneticist in the context of the patient's clinical presentation, family history, and other laboratory findings.
Positive result: Detection of a pathogenic or likely pathogenic variant in COX15 is consistent with a molecular diagnosis of COX15-related Leigh syndrome.
Negative result: No pathogenic or likely pathogenic variant was detected. This reduces but does not completely exclude a genetic cause; other genes may still be responsible.
Variant of uncertain significance: Further family studies, segregation analysis, or additional functional evidence may be needed before clinical significance can be assigned.
⚠️ When to Consult a Doctor:

Consult a neurologist or genetics specialist if you or a child has unexplained developmental regression, hypotonia, seizures, visual or hearing loss, or a confirmed family history of Leigh syndrome.

Limitations

  • This NGS test is designed to evaluate variants in the COX15 gene; it does not comprehensively evaluate all other nuclear mitochondrial genes or mitochondrial DNA.
  • Certain variant types such as large structural rearrangements or deep intronic variants may not be detected by this assay.
  • A negative result does not exclude Leigh syndrome caused by variants in other genes.

Risks & Considerations

  • Minimal risk of bruising or bleeding at the blood collection site.
  • Rare possibility of infection at the venepuncture site.
  • No direct medical risk is associated with the genetic analysis itself.

Interfering Factors

  • No dietary or fasting interference is known for this DNA-based test.
  • Poor DNA quality or insufficient sample quantity may affect test success.
  • Mislabelled samples or inappropriate sample containers may require repeat collection.
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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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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