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TNFSF11 Gene Osteopetrosis, autosomal recessive type 2 NGS Genetic Test

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TNFSF11 Gene Osteopetrosis, autosomal recessive type 2 NGS Genetic Test

Short Name: TNFSF11 Osteopetrosis Test

Also known as: RANK Ligand Deficiency, Autosomal Recessive Osteopetrosis Type 2

TNFSF11 Gene Osteopetrosis, autosomal recessive type 2 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

🩺 Medically Reviewed By

Overview

The purpose of the TNFSF11 Gene Osteopetrosis NGS Genetic Test is to diagnose autosomal recessive type 2 osteopetrosis by identifying mutations in the TNFSF11 gene. It helps confirm clinical diagnoses, identify carriers who may not show symptoms, and provide information on the risk of recurrence in future pregnancies, aiding in informed medical and family planning decisions.

Test Code
2456
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 of the patient and a genetic counseling session to draw a pedigree chart of family members affected with TNFSF11 gene osteopetrosis.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Your sample is analyzed using NGS Technology in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling. No fasting required.
2
During the Test:A blood sample is collected via venipuncture or using an FTA card for DNA extraction and NGS analysis.
3
After the Test:Results are available in 3 to 4 weeks. Genetic counseling is advised for interpretation.

About This Test

Who Should Get This Test

The purpose of the TNFSF11 Gene Osteopetrosis NGS Genetic Test is to diagnose autosomal recessive type 2 osteopetrosis by identifying mutations in the TNFSF11 gene. It helps confirm clinical diagnoses, identify carriers who may not show symptoms, and provide information on the risk of recurrence in future pregnancies, aiding in informed medical and family planning decisions.

How to Prepare

  • Use sterile techniques for blood collection
  • For FTA card, apply one drop of blood and air-dry
  • Label samples correctly with patient details

Doctor's Notes

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

"Genetic testing for TNFSF11 mutations is crucial for confirming diagnosis and guiding family planning in osteopetrosis cases."

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 Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or hemolyzed samples

Understanding Your Results

Results indicate the presence or absence of mutations in the TNFSF11 gene associated with osteopetrosis.
📊

No pathogenic variants

Normal result; no mutations detected in the TNFSF11 gene

📊

Pathogenic variant detected

Confirms diagnosis of autosomal recessive type 2 osteopetrosis; genetic counseling recommended

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification

⚠️ When to Consult a Doctor:

Consult a doctor if symptoms of osteopetrosis are present, such as frequent fractures, developmental delays, or vision/hearing issues, or for family planning if there is a family history of the disorder.

Limitations

  • May not detect all types of mutations, such as large deletions or duplications
  • Results require interpretation by a genetic counselor or specialist

Risks & Considerations

  • Minimal risks from blood draw, such as bruising or infection
  • Psychological impact of genetic results

Interfering Factors

  • Sample contamination
  • Degraded DNA quality

Frequently Asked Questions

What is the TNFSF11 Gene Osteopetrosis NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the TNFSF11 gene, which causes autosomal recessive type 2 osteopetrosis.
Who should consider this test?
Individuals with symptoms of osteopetrosis, such as frequent fractures, developmental delays, or vision/hearing problems, and those with a family history of the disorder.
What is the cost of the test in India?
The cost is approximately INR 20,000, with possible variations based on location and facility.
How is the test performed?
A blood sample or DNA extract is analyzed using NGS technology to sequence the TNFSF11 gene.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
Can this test identify carriers?
Yes, it can detect mutations in carriers who may not show symptoms.
Is home sample collection available?
Yes, free home collection is offered for online bookings across India.
What are the risks of the test?
Risks are minimal, primarily related to blood draw, such as bruising.
How should I prepare for the test?
Provide clinical history and attend a genetic counseling session; no special preparation is needed.
What if the test result is positive?
A positive result confirms the diagnosis; genetic counseling is recommended for management and family planning.
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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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.

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