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UQCC2 Gene Mitochondrial complex III deficiency, nuclear type 7 NGS Genetic Test

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UQCC2 Gene Mitochondrial complex III deficiency, nuclear type 7 NGS Genetic Test

Short Name: UQCC2 MC3DN7 NGS Test

Also known as: Mitochondrial Complex III Deficiency Type 7 Test, UQCC2 Gene Sequencing Test

UQCC2 Gene Mitochondrial complex III deficiency, nuclear type 7 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 3 to 4 weeks. 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 mutations in the UQCC2 gene for definitive diagnosis of Mitochondrial complex III deficiency, nuclear type 7 (MC3DN7), enabling targeted treatment and family planning counseling.

Test Code
2173
ICD Code
E88.4
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

A genetic counseling session is recommended to discuss family history and implications of testing.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture or alternative methods like FTA card.

Step 3

Report Delivery

Sample is processed in the lab; results are delivered in 3-4 weeks with a clinical report.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and informed consent are recommended prior to testing.
2
During the Test:Blood sample collection is a standard procedure with minimal discomfort.
3
After the Test:Follow-up with a healthcare provider to discuss results and next steps.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the UQCC2 gene for definitive diagnosis of Mitochondrial complex III deficiency, nuclear type 7 (MC3DN7), enabling targeted treatment and family planning counseling.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile collection tubes
  • Transport sample at ambient temperature

Doctor's Notes

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

"This NGS genetic test is essential for diagnosing rare mitochondrial disorders like MC3DN7, which present with neuromuscular symptoms and require early intervention for management."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 24 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Incorrect labeling

Understanding Your Results

Interpretation of results should be done by a qualified geneticist or healthcare provider to understand clinical implications.
Positive result: Pathogenic mutation detected, confirming MC3DN7 diagnosis
Negative result: No pathogenic variants found in UQCC2 gene
VUS result: Variant of uncertain significance; further testing or family studies may be needed
⚠️ When to Consult a Doctor:

Consult a doctor if symptoms persist, test results are positive, or for genetic counseling regarding family risks.

Limitations

  • May not detect all genetic variants or structural changes
  • Results require interpretation by a genetic counselor
  • Limited to UQCC2 gene mutations; other causes not excluded

Risks & Considerations

  • Minimal risks from blood draw (bruising, infection)
  • Potential psychological impact of genetic results
  • Genetic discrimination concerns

Interfering Factors

  • Contaminated or degraded DNA samples
  • Incorrect sample handling or storage
  • Technical errors in sequencing

Compare With Similar Tests

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Frequently Asked Questions

What is the UQCC2 Gene Mitochondrial Complex III Deficiency NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to detect mutations in the UQCC2 gene, causing MC3DN7, a rare mitochondrial disorder.
Who should take this test?
Individuals with symptoms like muscle weakness, developmental delays, seizures, or a family history of mitochondrial disorders.
What sample is required for the test?
Blood, extracted DNA, or a drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What does a positive result mean?
It confirms a diagnosis of Mitochondrial complex III deficiency, nuclear type 7 due to UQCC2 gene mutation.
Are there any risks associated with the test?
Risks are minimal, related to blood draw and potential psychological impact of results.
Is home sample collection available?
Yes, free home collection is offered across many cities in India.
What is the cost of the test?
The test costs INR 20,000.
How is the test different from other genetic tests?
It specifically targets the UQCC2 gene for MC3DN7, unlike broader tests like whole exome sequencing.
Can insurance cover this test?
Coverage depends on your insurance plan; check with your provider.
What should I do after receiving the results?
Consult a genetic counselor or healthcare provider for interpretation and 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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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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