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TIMM8A Gene Opticoacoustic nerve atrophy with dementia NGS Genetic Test

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TIMM8A Gene Opticoacoustic nerve atrophy with dementia NGS Genetic Test

Short Name: TIMM8A Gene NGS Test

Also known as: Opticoacoustic nerve atrophy with dementia, TIMM8A-related disorder, Mitochondrial import deficiency

TIMM8A Gene Opticoacoustic nerve atrophy with dementia 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

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

To detect mutations in the TIMM8A gene for diagnosing Opticoacoustic Nerve Atrophy with Dementia, enabling accurate clinical management and genetic counseling.

Test Code
2345
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 specific preparation required. Provide clinical history and pedigree chart during genetic counseling.

Method: Venipuncture for blood

Step 2

Laboratory Analysis

Blood sample drawn via venipuncture or use of FTA card for one drop blood. Collected at home or clinic.

Step 3

Report Delivery

Apply pressure to puncture site. Store samples at ambient temperature for transport to lab.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling recommended to draw pedigree chart and discuss implications.
2
During the Test:Blood sample collection is quick and minimally invasive.
3
After the Test:Report delivered in 3-4 weeks. Follow-up counseling advised.

About This Test

Who Should Get This Test

To detect mutations in the TIMM8A gene for diagnosing Opticoacoustic Nerve Atrophy with Dementia, enabling accurate clinical management and genetic counseling.

How to Prepare

  • Ensure proper identification
  • Use sterile equipment
  • Avoid hemolysis
  • Label samples correctly

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Early genetic diagnosis through NGS testing is crucial for confirming TIMM8A-related disorders and guiding symptom management strategies to improve quality of life."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples stable at ambient temperature for 48 hours
Extracted DNA stable at 2-8°C for weeks
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Contaminated samples
  • Incorrect labeling

Understanding Your Results

Results indicate presence or absence of mutations in the TIMM8A gene. Positive results confirm diagnosis; negative results may not rule out other causes.
Positive: Pathogenic mutation detected, consistent with disorder
Negative: No mutation found; consider clinical evaluation
Variant of uncertain significance (VUS): Requires further testing or monitoring
Consult geneticist for detailed explanation
⚠️ When to Consult a Doctor:

Consult a geneticist or neurologist immediately after receiving results to discuss diagnosis, management options, and family implications.

Limitations

  • ⚠May not detect all possible mutations in TIMM8A
  • ⚠Not suitable for prenatal diagnosis
  • ⚠Results require clinical correlation
  • ⚠Limited to TIMM8A gene; other genes not tested

Risks & Considerations

  • ●Minor bruising at blood draw site
  • ●Rare infection risk
  • ●Emotional impact of results

Interfering Factors

  • ●Poor sample quality
  • ●Contamination during collection
  • ●Recent blood transfusion may affect DNA analysis

Compare With Similar Tests

TestTIMM8A Gene Opticoacoustic nerve atrophy with dementia NGS Genetic TestGJB2 Gene Deafness NGS TestMitochondrial Genome Sequencing
ComparisonTIMM8A Gene Opticoacoustic nerve atrophy with dementia NGS Genetic TestFor hearing loss disorders, not specific to optic nerve involvementBroader test for mitochondrial disorders, may include TIMM8A analysis

Frequently Asked Questions

What is TIMM8A Gene Opticoacoustic Nerve Atrophy with Dementia?
It is a rare genetic disorder caused by TIMM8A mutations, leading to optic and acoustic nerve degeneration with dementia.
What are the main symptoms?
Symptoms include vision loss, hearing loss, cognitive decline, delayed motor development, and seizures.
How is this disorder diagnosed?
Diagnosis is confirmed through NGS genetic testing of the TIMM8A gene.
What does the NGS Genetic Test involve?
It uses Next Generation Sequencing to detect mutations in the TIMM8A gene from a blood or DNA sample.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India.
Is home sample collection available?
Yes, free home sample collection is available across India for this test.
How long does it take to get results?
Reports are typically delivered in 3 to 4 weeks.
Do I need to fast before the test?
No, fasting is not required for this genetic test.
What are the limitations of the test?
It may not detect all mutations and is not for prenatal diagnosis. Results require clinical correlation.
Is the test covered by insurance?
Coverage varies by insurer and scheme; check with your provider for details.
Who should consider getting tested?
Individuals with symptoms of vision/hearing loss and dementia, or those with a family history of similar conditions.
What is the treatment for this disorder?
There is no cure, but supportive care with hearing aids, vision aids, and cognitive therapy can help manage symptoms.
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.

LIMS Integration

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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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