Skip to main content
DNA Labs India

TIMM8A Gene Dystonia-deafness syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

TIMM8A Gene Dystonia-deafness syndrome NGS Genetic Test

Short Name: TIMM8A Gene Test

Also known as: Dystonia-deafness syndrome

TIMM8A Gene Dystonia-deafness syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To detect pathogenic mutations in the TIMM8A gene for the diagnosis of dystonia-deafness syndrome, aiding in clinical management and genetic counseling.

Test Code
1578
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
NGS Technology
Step 1

Sample Collection

Clinical history review and genetic counseling session to draw a pedigree chart of affected family members.

Step 2

Laboratory Analysis

Standard blood collection procedure using venipuncture.

Step 3

Report Delivery

Sample sent to laboratory for DNA extraction and NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Schedule a genetic counseling session and provide clinical history.
2
During the Test:Blood sample collection and processing for DNA analysis.
3
After the Test:Report generation and delivery; follow-up consultation recommended.

About This Test

Who Should Get This Test

To detect pathogenic mutations in the TIMM8A gene for the diagnosis of dystonia-deafness syndrome, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure sample is collected in appropriate container
  • Label sample correctly with patient details
  • Store and transport at room temperature

Doctor's Notes

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

"Genetic testing for TIMM8A mutations is crucial for diagnosing dystonia-deafness syndrome, enabling targeted management and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples stable at room temperature for 48 hours
DNA samples stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Incorrectly labeled samples

Understanding Your Results

Results indicate the presence or absence of mutations in the TIMM8A gene. Positive results confirm diagnosis, while negative results may require further testing.
📊

Pathogenic variant detected

Confirms diagnosis of dystonia-deafness syndrome

📊

No pathogenic variant detected

Unlikely dystonia-deafness syndrome; consider other diagnoses

📊

Variant of uncertain significance

Requires further evaluation and genetic counseling

⚠️ When to Consult a Doctor:

If symptoms such as hearing loss, dystonia, or developmental delays are present, or for family planning if there is a family history of the syndrome.

Limitations

  • ⚠May not detect all mutation types
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results may include variants of uncertain significance

Risks & Considerations

  • ●Psychological impact of genetic results
  • ●Potential for incidental findings
  • ●Minimal physical risks from blood draw

Interfering Factors

  • ●DNA sample degradation
  • ●Contamination during sample collection
  • ●Technical errors in sequencing

Frequently Asked Questions

What is dystonia-deafness syndrome?
Dystonia-deafness syndrome is a rare genetic disorder that causes hearing loss and involuntary muscle contractions leading to movement abnormalities.
What causes dystonia-deafness syndrome?
It is caused by mutations in the TIMM8A gene, which affects mitochondrial protein transport and cellular function.
How is dystonia-deafness syndrome diagnosed?
Diagnosis involves clinical evaluation and genetic testing, such as NGS, to confirm TIMM8A gene mutations.
What is the TIMM8A gene test?
It is an NGS genetic test that analyzes the TIMM8A gene for mutations associated with dystonia-deafness syndrome.
What is the cost of the TIMM8A gene test at DNA Labs India?
The test costs INR 20000, with free home sample collection available across India.
Is the test covered by insurance?
Coverage depends on your insurance plan. Check with your provider for details.
How is the sample collected for the test?
A blood sample is collected via venipuncture, or DNA can be extracted from other sources like FTA cards.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What do the test results mean?
Results indicate if pathogenic mutations are detected in the TIMM8A gene. Positive results confirm the syndrome, while negative may require further testing.
Can the test be done at home?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
What are the risks of the test?
Risks are minimal, including potential psychological impact of results and standard blood draw risks.
How should I prepare for the test?
No special preparation is needed, but provide clinical history and attend genetic counseling if recommended.
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.

Related Tests

Angelman Syndrome Test

₹10,000

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

₹14,000

Episodic Ataxia Type 1 Hotspot Test

₹11,500

Episodic Ataxia Comprehensive Profile Hotspot Test

₹16,000

Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test

₹7,500

Analyzer 18 SMA 18 Test Panel

₹1,755
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.

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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.