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TNXB Gene Ehlers-Danlos syndrome type 3 NGS Genetic Test

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TNXB Gene Ehlers-Danlos syndrome type 3 NGS Genetic Test

Short Name: TNXB EDS Type 3 NGS Test

Also known as: Hypermobile Ehlers-Danlos Syndrome, hEDS

TNXB Gene Ehlers-Danlos syndrome type 3 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.

Genetic TestAll Ages🏠 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 Ehlers-Danlos Syndrome Type 3 by identifying mutations in the TNXB gene using Next-Generation Sequencing technology, enabling early intervention and personalized care.

Test Code
4913
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

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

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood draw procedure using venipuncture; ensure proper labeling and handling.

Step 3

Report Delivery

Sample is transported to the laboratory under ambient temperature for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling to discuss test implications, informed consent, and family history assessment.
2
During the Test:Blood sample collection via venipuncture; minimal discomfort expected.
3
After the Test:Wait for results in 3-4 weeks; follow up with genetic counselor for interpretation and management planning.

About This Test

Who Should Get This Test

To diagnose Ehlers-Danlos Syndrome Type 3 by identifying mutations in the TNXB gene using Next-Generation Sequencing technology, enabling early intervention and personalized care.

How to Prepare

  • Avoid hemolysis during blood draw
  • Use appropriate anticoagulant tubes
  • Label samples accurately with patient details

Doctor's Notes

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

"Early genetic diagnosis of EDS Type 3 can guide management and improve patient outcomes, especially in reproductive planning and symptom control."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood: 2-8°C for up to 48 hours
Extracted DNA: stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improper labeling or documentation

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the TNXB gene, which are associated with Ehlers-Danlos Syndrome Type 3.
📊

Pathogenic mutation detected

Confirms diagnosis of EDS Type 3; recommend clinical management and family screening.

📊

No pathogenic mutation detected

EDS Type 3 is unlikely; consider other genetic or clinical causes for symptoms.

📊

Variant of uncertain significance

Further testing or family studies may be needed; genetic counseling advised.

⚠️ When to Consult a Doctor:

If symptoms such as joint hypermobility, skin hyperextensibility, or chronic pain are present, or if there is a family history of EDS, consult a genetic counselor or healthcare provider for evaluation.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Psychological impact of genetic results
  • ●Potential for uncertain findings requiring further investigation

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestTNXB Gene Ehlers-Danlos syndrome type 3 NGS Genetic Test
ComparisonTNXB Gene Ehlers-Danlos syndrome type 3 NGS Genetic Test

Frequently Asked Questions

What is Ehlers-Danlos Syndrome Type 3?
Ehlers-Danlos Syndrome Type 3, also known as hypermobile EDS, is a genetic connective tissue disorder characterized by joint hypermobility, skin hyperextensibility, and tissue fragility, often leading to chronic pain and fatigue.
What is the TNXB gene?
The TNXB gene provides instructions for making the tenascin-X protein, which is crucial for the structure and function of connective tissues in the body.
How is EDS Type 3 diagnosed?
Diagnosis involves clinical evaluation of symptoms, family history assessment, and genetic testing to identify mutations in genes like TNXB.
What does the TNXB Gene NGS Genetic Test involve?
This test uses Next-Generation Sequencing to analyze the TNXB gene for mutations associated with EDS Type 3, requiring a blood or DNA sample.
What is the cost of the TNXB Gene EDS Type 3 NGS Genetic Test?
The test costs INR 20000 in India, with home sample collection available at no extra charge.
Is home sample collection available for this test?
Yes, free home sample collection is offered for online bookings across numerous cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What are the symptoms of EDS Type 3?
Symptoms include joint hypermobility, skin that stretches easily, tissue fragility, chronic pain, fatigue, and joint instability.
Is genetic testing necessary for diagnosing EDS Type 3?
While clinical features are key, genetic testing can confirm the diagnosis and help guide management, especially in ambiguous cases.
Can EDS Type 3 be treated?
There is no cure, but management focuses on symptom relief through physical therapy, pain management, and lifestyle modifications to improve quality of life.
What is the accuracy of the NGS test for TNXB gene mutations?
NGS technology offers high accuracy in detecting genetic variants, but results should be interpreted in conjunction with clinical findings by a genetic specialist.
Who should consider this TNXB Gene EDS Type 3 NGS Genetic Test?
Individuals with symptoms of hypermobile EDS, a family history of the disorder, or those seeking genetic confirmation for management and family planning purposes.
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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