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SUCLA2 Gene Mitochondrial DNA depletion syndrome NGS Genetic Test

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SUCLA2 Gene Mitochondrial DNA depletion syndrome NGS Genetic Test

Short Name: SUCLA2 NGS

Also known as: SUCLA2 gene mutation analysis, Mitochondrial DNA depletion syndrome genetic test, SUCLA2-related mitochondrial encephalomyopathy NGS test

SUCLA2 Gene Mitochondrial DNA depletion 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 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic TestbothAll age groups🏠 Home Collection

🩺 Medically Reviewed By

Overview

To detect pathogenic variants in the SUCLA2 gene associated with Mitochondrial DNA Depletion Syndrome, facilitating early diagnosis, clinical management, and reproductive risk assessment.

Test Code
4323
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks after sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

A genetic counseling session to draw a pedigree chart of family members affected with SUCLA2-related mitochondrial DNA depletion syndrome is recommended. Provide the patient's clinical history.

Step 2

Laboratory Analysis

Standard blood collection procedure using sterile techniques or DNA extraction from an FTA card sample.

Step 3

Report Delivery

No specific restrictions. You may resume normal activities immediately.

Timeline: 3 to 4 weeks after sample receipt.

Patient Instructions

1
Before the Test:A genetic counseling session to draw a pedigree chart of affected family members is recommended. Provide clinical history of the patient.
2
During the Test:The test involves a simple blood collection or FTA card sample. No special preparation is required.
3
After the Test:You may resume normal activities. Results will be available in 3 to 4 weeks.

About This Test

Who Should Get This Test

To detect pathogenic variants in the SUCLA2 gene associated with Mitochondrial DNA Depletion Syndrome, facilitating early diagnosis, clinical management, and reproductive risk assessment.

How to Prepare

  • Blood sample in an EDTA tube (5 ml)
  • Extracted DNA (2-5 µg in 10-25 µl)
  • One drop of blood on FTA card, air dried
  • Label the sample clearly with patient identification

Doctor's Notes

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

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

FTA card: stable at ambient room temperature
Blood: refrigerated during transport
Extracted DNA: stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed blood sample
  • Clotted blood sample
  • Insufficient DNA quantity
  • Incorrect patient identification

Understanding Your Results

The test report includes the raw sequencing data, FASTQ and VCF files, along with a clinical interpretation by a molecular geneticist.
Positive result: Pathogenic/likely pathogenic variant in SUCLA2 confirms the genetic diagnosis.
Negative result: No pathogenic variant found; other genetic causes should be considered.
Variant of uncertain significance: Additional family studies may be required.
⚠️ When to Consult a Doctor:

If you have symptoms suggestive of mitochondrial disease or a family history of SUCLA2 mutations, consult a clinical geneticist or neurologist.

Risks & Considerations

  • Minor discomfort or bruising at the blood draw site

Interfering Factors

  • Poor DNA quality
  • Sample contamination
  • Insufficient DNA quantity

Frequently Asked Questions

What is the SUCLA2 gene test?
This NGS genetic test evaluates the SUCLA2 gene to identify mutations that cause Mitochondrial DNA Depletion Syndrome.
What is the cost of the test?
The test cost is INR 20,000.
What sample is required?
Blood, extracted DNA, or a drop of blood on an FTA card.
Do I need to fast before the test?
No, fasting is not required.
How long does it take to get results?
Reports are provided in 3 to 4 weeks.
Is home sample collection available?
Yes, free home sample collection is provided for online bookings across India.
What is Mitochondrial DNA Depletion Syndrome?
It is a rare genetic disorder affecting cellular energy production due to mutations in genes like SUCLA2.
What are the common symptoms?
Symptoms include seizures, developmental delays, weakness, loss of muscle control, liver and kidney failure, heart disease, and respiratory failure.
Who should consider this test?
Individuals with clinical suspicion of mitochondrial disease, unexplained neurological symptoms, or family history of SUCLA2 mutations.
Does this test detect all mitochondrial DNA depletion syndromes?
No, this test specifically analyzes the SUCLA2 gene. Other genes are not covered.
Will my insurance cover the test?
Coverage varies; please check with your insurance provider and available government schemes.
What will the report include?
The report will include raw data, FASTQ and VCF files, along with a clinical interpretation and variant classification.
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.

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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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