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TK2 Gene Mitochondrial DNA depletion syndrome NGS Genetic Test

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TK2 Gene Mitochondrial DNA depletion syndrome NGS Genetic Test

Short Name: TK2 Gene MDDS NGS Test

Also known as: Mitochondrial DNA Depletion Syndrome due to TK2 mutation, TK2-related MDDS

TK2 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. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)All Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose mutations in the TK2 gene that cause mitochondrial DNA depletion syndrome, aiding in early detection, management, and genetic counseling.

Test Code
1735
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

No special preparation required. Bring prescription and identification.

Method: Venipuncture or FTA Card Sample

Step 2

Laboratory Analysis

Standard blood draw or FTA card sample collection performed by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site. Ensure sample is kept at ambient room temperature.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult a genetic counselor for pre-test counseling to discuss family history and test implications.
2
During the Test:Sample collection as per standard procedures with minimal discomfort.
3
After the Test:Results will be available in 3-4 weeks; genetic counseling is provided for result interpretation.

About This Test

Who Should Get This Test

To diagnose mutations in the TK2 gene that cause mitochondrial DNA depletion syndrome, aiding in early detection, management, and genetic counseling.

How to Prepare

  • Ensure sample is at ambient room temperature
  • Use aseptic technique for collection
  • Label sample correctly with patient details

Doctor's Notes

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

"Genetic testing for TK2 gene mutations is vital for early diagnosis and intervention in mitochondrial DNA depletion syndromes, potentially improving patient outcomes."

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 Sample

Sample Stability

Blood sample stable at room temperature for 24 hours
FTA card samples stable for extended periods when stored properly
Sample Rejection Criteria:
  • Hemolyzed or lipemic sample
  • Insufficient sample volume
  • Improperly labeled sample

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the TK2 gene linked to mitochondrial DNA depletion syndrome.
📊

Negative

No pathogenic variants detected in the TK2 gene

Action: Consider other diagnoses if symptoms persist

📊

Positive

Pathogenic variant detected indicative of TK2-related mitochondrial DNA depletion syndrome

Action: Refer to genetic counseling and management plan

📊

Variant of Uncertain Significance

Genetic variant found but clinical significance unknown

Action: Further testing and clinical correlation recommended

⚠️ When to Consult a Doctor:

If experiencing symptoms such as muscle weakness, respiratory issues, or if there is a family history of genetic disorders, consult a geneticist or neurologist promptly.

Limitations

  • ⚠May not detect all possible mutations or variants of uncertain significance
  • ⚠Results must be interpreted in conjunction with clinical findings

Risks & Considerations

  • ●Minimal risks from blood draw: bruising, infection, or fainting
  • ●Potential emotional impact from genetic results
  • ●Possibility of variants of uncertain significance requiring further evaluation

Interfering Factors

  • ●Poor sample quality
  • ●Contamination

Compare With Similar Tests

TestTK2 Gene Mitochondrial DNA depletion syndrome NGS Genetic TestSanger Sequencing for TK2 GeneWhole Mitochondrial Genome Sequencing
ComparisonTK2 Gene Mitochondrial DNA depletion syndrome NGS Genetic Test

Frequently Asked Questions

What is TK2 Gene Mitochondrial DNA Depletion Syndrome?
It is a rare genetic disorder caused by mutations in the TK2 gene, leading to reduced mitochondrial DNA and impaired cellular energy production, often causing muscle weakness and other neurological symptoms.
What are the common symptoms of this syndrome?
Symptoms include muscle weakness, decreased muscle tone, difficulty swallowing, respiratory failure, enlarged liver, and loss of motor skills.
How is the TK2 Gene NGS Genetic Test performed?
The test uses Next-Generation Sequencing (NGS) technology to analyze the TK2 gene from a blood sample or extracted DNA, detecting mutations accurately.
What is the cost of the TK2 Gene NGS Genetic Test at DNA Labs India?
The test costs INR 20000, which includes the genetic test and consultation fee.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across numerous cities in India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result indicates the presence of a pathogenic mutation in the TK2 gene, confirming diagnosis of TK2-related mitochondrial DNA depletion syndrome, and requiring further management.
Is the test covered by insurance?
Coverage depends on the insurance provider; it is not universally covered. Check with your insurer for details.
Can children undergo this genetic test?
Yes, the test is suitable for all ages, including children, if indicated by symptoms or family history.
What is the accuracy of NGS technology for this test?
NGS technology is highly accurate for detecting mutations in the TK2 gene, with sensitivity and specificity in identifying genetic variants.
Do I need a doctor's prescription for the test?
A prescription or clinical referral is recommended for the test, along with genetic counseling prior to testing.
How can I schedule an appointment for the test?
You can schedule an appointment online through DNA Labs India's website or contact their customer service for assistance.
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.

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