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ANTXR2 Gene Hyaline fibromatosis syndrome NGS Genetic Test

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ANTXR2 Gene Hyaline fibromatosis syndrome NGS Genetic Test

Short Name: Hyaline Fibromatosis Syndrome NGS Test

Also known as: HFS Genetic Test, ANTXR2 Mutation Analysis

ANTXR2 Gene Hyaline fibromatosis syndrome 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.

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 pathogenic mutations in the ANTXR2 gene to confirm a diagnosis of Hyaline Fibromatosis Syndrome, guide treatment decisions, and facilitate genetic counseling for affected individuals and their families.

Test Code
4967
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

Provide clinical history and undergo genetic counseling. No specific preparation required.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture or finger prick.

Step 3

Report Delivery

Apply pressure to the puncture site. Resume normal activities.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review.
2
During the Test:Sample collection and processing.
3
After the Test:Report generation and genetic counseling.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic mutations in the ANTXR2 gene to confirm a diagnosis of Hyaline Fibromatosis Syndrome, guide treatment decisions, and facilitate genetic counseling for affected individuals and their families.

How to Prepare

  • Fast for 8-12 hours if specified, but typically not required
  • Bring identification and prescription
  • Inform about any medications

Doctor's Notes

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

"This NGS test is essential for confirming Hyaline Fibromatosis Syndrome, enabling early intervention and genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Room temperature24 hours
Refrigerated7 days
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Improperly labeled sample

Understanding Your Results

Results indicate the presence or absence of mutations in the ANTXR2 gene associated with Hyaline Fibromatosis Syndrome.
📊

Negative

No pathogenic variants detected. HFS unlikely but clinical correlation needed.

📊

Positive

Pathogenic variant detected. Confirms diagnosis of HFS. Genetic counseling recommended.

⚠️ When to Consult a Doctor:

If you have symptoms of HFS or a family history, consult a geneticist or dermatologist for evaluation and testing.

Limitations

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

Risks & Considerations

  • ●Minimal risk from blood draw: bruising, infection
  • ●Psychological impact of results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample handling

Frequently Asked Questions

What is Hyaline Fibromatosis Syndrome?
Hyaline Fibromatosis Syndrome (HFS) is a rare genetic disorder affecting connective tissue, caused by mutations in the ANTXR2 gene, leading to abnormal growths of hyaline fibrous tissue.
What causes HFS?
HFS is caused by mutations in the ANTXR2 gene, which is responsible for producing a protein that maintains the integrity of the extracellular matrix.
What are the symptoms of HFS?
Symptoms include skin lesions, joint stiffness, restricted movement, contractures, deformities of fingers and toes, bone deformities, and respiratory or cardiovascular problems.
How is HFS diagnosed?
Diagnosis involves clinical examination and genetic testing. The NGS Genetic Test detects mutations in the ANTXR2 gene to confirm the diagnosis.
What is the ANTXR2 gene?
The ANTXR2 gene provides instructions for making a protein involved in maintaining the extracellular matrix. Mutations in this gene cause Hyaline Fibromatosis Syndrome.
What does the NGS Genetic Test involve?
The test uses Next-Generation Sequencing to analyze the ANTXR2 gene for mutations. It requires a blood or DNA sample.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is the test painful?
The test involves a blood draw, which may cause minor discomfort, but it is generally not painful.
Can HFS be treated?
There is no cure for HFS, but early diagnosis allows for symptom management and supportive care to improve quality of life.
Is genetic testing necessary for family members?
Genetic testing may be recommended for family members to assess risk, especially if there is a family history of HFS.
What is the cost of the test?
The cost of the ANTXR2 Gene Hyaline Fibromatosis Syndrome NGS Genetic Test is INR 20000.
How can I book the test?
You can book the test online through DNA Labs India's website or by contacting their customer service for home sample collection.
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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