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TIMM8A Gene Jensen syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

TIMM8A Gene Jensen syndrome NGS Genetic Test

Short Name: TIMM8A Gene Test

Also known as: Optic Atrophy Type 4, Jensen Syndrome

TIMM8A Gene Jensen 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 2-4 weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To diagnose Jensen syndrome by identifying pathogenic mutations in the TIMM8A gene using NGS technology, enabling informed clinical management and genetic counseling.

Test Code
1637
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
2-4 weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No special preparation required. Genetic counseling recommended before testing.

Method: Blood draw or saliva collection

Step 2

Laboratory Analysis

Blood draw or saliva collection performed by trained phlebotomist using aseptic techniques.

Step 3

Report Delivery

Sample labeled and transported to the laboratory under appropriate conditions for analysis.

Timeline: 2-4 weeks

Patient Instructions

1
Before the Test:Genetic counseling recommended to understand test implications and family history.
2
During the Test:Sample collection via blood draw or saliva; procedure is simple and painless.
3
After the Test:Wait for results (2-4 weeks); consult with geneticist for interpretation and next steps.

About This Test

Who Should Get This Test

To diagnose Jensen syndrome by identifying pathogenic mutations in the TIMM8A gene using NGS technology, enabling informed clinical management and genetic counseling.

How to Prepare

  • Ensure proper patient identification
  • Follow aseptic techniques
  • Label samples with patient details
  • Store at ambient room temperature

Doctor's Notes

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

"Early genetic testing for Jensen syndrome aids in accurate diagnosis, management, and family planning. Consult a geneticist for interpretation."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood draw or saliva collection

Sample Stability

Blood samples stable for 24 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient volume
  • Improper labeling
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of mutations in the TIMM8A gene associated with Jensen syndrome.
📊

Pathogenic variant detected

Consistent with Jensen syndrome diagnosis. Clinical correlation and genetic counseling advised.

📊

No pathogenic variants detected

Unlikely Jensen syndrome based on TIMM8A gene analysis, but symptoms may require further evaluation.

⚠️ When to Consult a Doctor:

If symptoms such as vision or hearing loss are present, or if there is a family history of Jensen syndrome, consult a neurologist or geneticist.

Limitations

  • ⚠May not detect all mutations due to sequencing limitations
  • ⚠Results require clinical correlation
  • ⚠Genetic counseling is recommended for interpretation

Risks & Considerations

  • ●Bruising at blood draw site
  • ●Infection risk (very low)
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Insufficient sample volume
  • ●Technical errors in sequencing

Compare With Similar Tests

TestTIMM8A Gene Jensen syndrome NGS Genetic TestOther NGS Genetic TestsOphthalmological Evaluation
ComparisonTIMM8A Gene Jensen syndrome NGS Genetic Test

Frequently Asked Questions

What is Jensen syndrome?
Jensen syndrome, or Optic Atrophy Type 4, is a rare genetic disorder affecting eyes, ears, and nervous system due to TIMM8A gene mutations.
What causes Jensen syndrome?
It is caused by mutations in the TIMM8A gene, which impairs protein transport in cells, leading to symptoms.
What are the symptoms of Jensen syndrome?
Common symptoms include vision loss, hearing loss, developmental delays, speech difficulties, and muscle weakness.
How is Jensen syndrome diagnosed?
Diagnosis involves genetic testing, such as the TIMM8A Gene NGS Genetic Test, along with clinical evaluation and family history.
What is the TIMM8A Gene Jensen Syndrome NGS Genetic Test?
It is a Next-Generation Sequencing test that analyzes the TIMM8A gene to identify mutations causing Jensen syndrome.
How does the NGS genetic test work?
NGS technology sequences DNA to detect variations in the TIMM8A gene, providing detailed genetic information.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on FTA card can be used.
How long does it take to get results?
Results are typically available within 2-4 weeks after sample collection.
Is the test painful?
No, the test involves a simple blood draw or saliva collection, which is minimally invasive.
What is the cost of the test?
The test costs INR 20000, which includes sample collection, analysis, and report.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
What should I do after getting the test results?
Consult a geneticist or neurologist to interpret results, discuss management options, and consider genetic counseling.
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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