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TNFRSF11A Gene Osteolysis, familial expansile NGS Genetic Test

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TNFRSF11A Gene Osteolysis, familial expansile NGS Genetic Test

Short Name: Familial Expansile Osteolysis NGS Test

Also known as: Familial Expansile Osteolysis, TNFRSF11A-related osteolysis, Autosomal dominant osteolysis

TNFRSF11A Gene Osteolysis, familial expansile 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 SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To detect mutations in the TNFRSF11A gene for confirming diagnosis of familial expansile osteolysis, enabling early intervention, family screening, and personalized management.

Test Code
2460
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 patient and genetic counseling session to draw a pedigree chart of affected family members.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or use of FTA card for one drop of blood.

Step 3

Report Delivery

Sample labeled and transported to laboratory under ambient room temperature.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment.
2
During the Test:NGS technology analyzes the TNFRSF11A gene for mutations.
3
After the Test:Results reviewed by geneticist and discussed with patient.

About This Test

Who Should Get This Test

To detect mutations in the TNFRSF11A gene for confirming diagnosis of familial expansile osteolysis, enabling early intervention, family screening, and personalized management.

How to Prepare

  • Provide detailed clinical history
  • Attend genetic counseling session
  • Ensure sample is properly labeled
  • Avoid hemolysis during blood draw

Doctor's Notes

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

"Genetic testing for TNFRSF11A is crucial for early diagnosis and management of familial expansile osteolysis, especially in families with a history of bone disorders."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerStandard blood collection tube
Collection MethodVenipuncture

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the TNFRSF11A gene. A positive result confirms familial expansile osteolysis, while a negative result may require further clinical evaluation.
📊

Positive for pathogenic variant

Confirms diagnosis of familial expansile osteolysis. Genetic counseling recommended for family screening.

📊

Negative for pathogenic variant

No mutation detected in TNFRSF11A gene. Clinical correlation and additional testing may be needed.

📊

Variant of uncertain significance

Genetic variant identified but clinical significance unknown. Follow-up and family studies advised.

⚠️ When to Consult a Doctor:

If experiencing symptoms like bone pain, fractures, or deformities, or if there is a family history of osteolysis, consult a healthcare provider for evaluation and possible genetic testing.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results may have variants of uncertain significance

Risks & Considerations

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

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Improper sample storage

Compare With Similar Tests

TestTNFRSF11A Gene Osteolysis, familial expansile NGS Genetic TestBone Density Scan (DEXA)X-ray ImagingBiochemical MarkersSanger Sequencing
ComparisonTNFRSF11A Gene Osteolysis, familial expansile NGS Genetic TestMeasures bone density but does not identify genetic cause.Shows bone deformities but cannot confirm genetic etiology.Assesses bone turnover but not specific for familial expansile osteolysis.Traditional genetic testing, less comprehensive than NGS for multiple variants.

Frequently Asked Questions

What is familial expansile osteolysis?
It is a rare genetic disorder causing progressive bone breakdown, leading to deformities and fractures, often due to TNFRSF11A gene mutations.
What causes this condition?
Mutations in the TNFRSF11A gene, which is involved in bone remodeling, cause familial expansile osteolysis.
How is it inherited?
It follows an autosomal dominant pattern, meaning one mutated gene from either parent can cause the disease.
What are the common symptoms?
Symptoms include bone pain, joint pain, skeletal deformities, recurrent fractures, and decreased mobility, often starting in childhood.
How is familial expansile osteolysis diagnosed?
Diagnosis involves physical examination, family history, and genetic testing like NGS to detect TNFRSF11A mutations.
What does the NGS genetic test involve?
Next-Generation Sequencing analyzes the TNFRSF11A gene for mutations using a blood or DNA sample.
What is the cost of the TNFRSF11A gene test?
The test costs INR 20,000 at DNA Labs India, with home sample collection available.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What should I do before getting tested?
Provide clinical history, attend genetic counseling, and ensure proper sample collection.
Who should consider this test?
Individuals with symptoms of osteolysis, family history of the condition, or those seeking genetic confirmation.
What files are provided with the report?
DNA Labs India provides Raw Data, FASTQ, and VCF files along with the clinical test report for transparency.
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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