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COL11A2 Gene Fibrochondrogenesis 2 NGS Genetic Test

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COL11A2 Gene Fibrochondrogenesis 2 NGS Genetic Test

Short Name: COL11A2 Fibrochondrogenesis 2 Test

COL11A2 Gene Fibrochondrogenesis 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

✍️ 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 COL11A2 gene that cause Fibrochondrogenesis 2, aiding in diagnosis, carrier testing, and genetic counseling.

Test Code
4935
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

No specific preparation required. Genetic counseling is advised.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

A blood sample will be collected by a trained professional using standard venipuncture.

Step 3

Report Delivery

Apply pressure to the puncture site. Resume normal activities.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Undergo genetic counseling to understand the test implications.
2
During the Test:Sample collection and laboratory analysis as per standard protocols.
3
After the Test:Review results with a genetic counselor for interpretation and next steps.

About This Test

Who Should Get This Test

To detect mutations in the COL11A2 gene that cause Fibrochondrogenesis 2, aiding in diagnosis, carrier testing, and genetic counseling.

How to Prepare

  • Verify patient identity
  • Use aseptic technique
  • Label sample correctly

Doctor's Notes

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

"Early genetic testing for COL11A2 mutations can aid in timely management and genetic counseling for Fibrochondrogenesis 2."

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

Blood sample stable for 48 hours at 2-8°C
Extracted DNA stable for longer periods
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Incorrect labeling

Understanding Your Results

The test results indicate the presence or absence of pathogenic variants in the COL11A2 gene associated with Fibrochondrogenesis 2.
📊

Positive for pathogenic variant

Confirms diagnosis of Fibrochondrogenesis 2. Genetic counseling recommended.

📊

Negative

No pathogenic variants detected. Clinical correlation advised.

📊

Variant of uncertain significance

Further testing or family studies may be needed.

⚠️ When to Consult a Doctor:

If you exhibit symptoms of Fibrochondrogenesis 2 or have a family history of the disorder, consult a geneticist or orthopedic specialist.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Results require interpretation by a genetic specialist

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Potential psychological impact of results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality

Compare With Similar Tests

TestCOL11A2 Gene Fibrochondrogenesis 2 NGS Genetic TestCOL11A1 Gene TestSkeletal Dysplasia Panel
ComparisonCOL11A2 Gene Fibrochondrogenesis 2 NGS Genetic Test

Frequently Asked Questions

What is Fibrochondrogenesis 2?
Fibrochondrogenesis 2 is a rare genetic disorder caused by mutations in the COL11A2 gene, leading to abnormal bone and cartilage development.
What are the symptoms of Fibrochondrogenesis 2?
Symptoms include short stature, joint pain, spinal curvature, flat face, small jaw, and dental abnormalities.
How is Fibrochondrogenesis 2 diagnosed?
Diagnosis is confirmed through genetic testing, such as the COL11A2 Gene NGS Test.
What does the COL11A2 Gene Test involve?
The test uses Next-Generation Sequencing to analyze the COL11A2 gene for mutations from a blood or DNA sample.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India.
Is home sample collection available?
Yes, free home sample collection is available across India for online bookings.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What do positive results mean?
Positive results indicate a pathogenic mutation in COL11A2, confirming Fibrochondrogenesis 2.
Is genetic counseling necessary?
Yes, genetic counseling is recommended before and after testing to understand results and implications.
Can this test be used for prenatal diagnosis?
Yes, it can be used for prenatal testing if there is a known family history.
What are the limitations of the test?
The test may not detect all mutation types and requires expert interpretation.
How accurate is the test?
The test uses NGS technology, which is highly accurate for detecting genetic variants.
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.

LIMS Integration

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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