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TNFRSF11A Gene Osteopetrosis, autosomal recessive type 7 NGS Genetic Test

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TNFRSF11A Gene Osteopetrosis, autosomal recessive type 7 NGS Genetic Test

Short Name: TNFRSF11A Gene Test

Also known as: ARO7 osteopetrosis, TNFRSF11A-related osteopetrosis

TNFRSF11A Gene Osteopetrosis, autosomal recessive type 7 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

The purpose of this test is to identify mutations in the TNFRSF11A gene that cause autosomal recessive type 7 osteopetrosis, enabling accurate diagnosis, carrier testing, and informed genetic counseling.

Test Code
5094
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

Genetic counseling session recommended. Provide clinical history and family pedigree.

Method: Blood Draw

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or use of FTA card.

Step 3

Report Delivery

Sample sent to laboratory for NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and informed consent required.
2
During the Test:Sample collection and processing.
3
After the Test:Report generation and genetic counseling for results.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the TNFRSF11A gene that cause autosomal recessive type 7 osteopetrosis, enabling accurate diagnosis, carrier testing, and informed genetic counseling.

How to Prepare

  • Ensure proper sample labeling
  • Follow aseptic techniques
  • Store sample at appropriate temperature

Doctor's Notes

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

"Early genetic testing for TNFRSF11A mutations is crucial for managing osteopetrosis and guiding treatment options, especially in families with a history of the disorder."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods
Sample Rejection Criteria:
  • Hemolyzed sample
  • Incorrect sample type
  • Insufficient volume

Understanding Your Results

Results indicate the presence or absence of mutations in the TNFRSF11A gene associated with autosomal recessive type 7 osteopetrosis.
Positive result: Pathogenic variant detected, confirming diagnosis.
Negative result: No pathogenic variants found, but clinical correlation needed.
Variant of uncertain significance: Requires further evaluation.
⚠️ When to Consult a Doctor:

If symptoms of osteopetrosis are present or if there is a family history, consult a geneticist or orthopedic specialist.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results may have implications for family members

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample degradation
  • ●Contamination
  • ●Insufficient DNA quantity

Frequently Asked Questions

What is TNFRSF11A Gene Osteopetrosis?
It is a rare genetic disorder caused by mutations in the TNFRSF11A gene, leading to autosomal recessive type 7 osteopetrosis, characterized by abnormal bone hardening.
What are the symptoms of autosomal recessive type 7 osteopetrosis?
Symptoms include frequent fractures, delayed tooth eruption, scoliosis, short stature, anemia, and vision problems like optic atrophy.
How is ARO7 osteopetrosis diagnosed?
Diagnosis involves clinical evaluation, radiographic imaging, and genetic testing, with NGS being the most accurate method for detecting TNFRSF11A gene mutations.
What is NGS Genetic Test?
NGS (Next Generation Sequencing) is a advanced technology that sequences genes quickly and accurately to identify genetic variations or mutations.
What is the cost of TNFRSF11A Gene Test in India?
The cost is approximately INR 20,000, though it may vary by lab and location. It is not typically covered by insurance.
Is the test covered by insurance?
Most insurance policies in India do not cover genetic testing, so patients may need to pay out-of-pocket.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What are the risks of genetic testing?
Risks are minimal, such as slight discomfort from blood draw, but there may be psychological impacts from the results.
Can this test be used for carrier testing?
Yes, it can identify carriers of TNFRSF11A mutations, which is useful for family planning and genetic counseling.
What should I do before getting tested?
Consult with a genetic counselor to understand the benefits, risks, and implications, and provide clinical history and family pedigree.
How accurate is the NGS Genetic Test?
NGS is highly accurate for detecting mutations in the TNFRSF11A gene, but interpretation should be done by a qualified geneticist.
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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✓ 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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