COL11A1 Gene Fibrochondrogenesis type 1 NGS Genetic Test
Short Name: COL11A1 Fibrochondrogenesis Test
Also known as: Fibrochondrogenesis Type 1 Genetic Test, COL11A1 Mutation Analysis
COL11A1 Gene Fibrochondrogenesis type 1 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 3, 2026
Overview
The purpose of this test is to diagnose Fibrochondrogenesis type 1 by detecting pathogenic mutations in the COL11A1 gene, which encodes a protein essential for collagen formation in cartilage and bones. Accurate diagnosis helps in clinical management, genetic counseling, and family planning.
- Test Code
- 5740
- 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)
Sample Collection
Provide clinical history and undergo genetic counseling to draw a pedigree chart of affected family members.
Method: Venipuncture or blood drop
Laboratory Analysis
Blood sample will be collected via venipuncture or a blood drop on FTA card by a trained phlebotomist.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Store sample as per instructions before transport.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose Fibrochondrogenesis type 1 by detecting pathogenic mutations in the COL11A1 gene, which encodes a protein essential for collagen formation in cartilage and bones. Accurate diagnosis helps in clinical management, genetic counseling, and family planning.
How to Prepare
- Ensure patient is relaxed and hydrated
- Use sterile equipment for blood collection
- Label sample correctly with patient details
- Transport sample at ambient room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This genetic test is essential for early diagnosis of Fibrochondrogenesis type 1 in children, enabling timely intervention and genetic counseling for families."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Incorrect labeling or missing information
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Fibrochondrogenesis type 1. Genetic counseling and management planning recommended.
No pathogenic variant detected
Fibrochondrogenesis type 1 unlikely based on this gene. Consider other genetic or clinical causes.
Variant of uncertain significance
Further testing or family studies may be needed for clarification.
Consult a geneticist or pediatric specialist if symptoms persist, worsen, or if there is a family history of skeletal disorders.
Limitations
- ⚠May not detect all genetic variants or mosaicism
- ⚠Requires clinical correlation for diagnosis
- ⚠Genetic counseling is recommended for result interpretation
Risks & Considerations
- ●Minimal risk from blood draw, such as slight pain or bruising
- ●No significant risks associated with the genetic test itself
Interfering Factors
- ●Sample contamination
- ●Improper sample handling or storage
- ●Hemolyzed blood sample
Compare With Similar Tests
| Test | COL11A1 Gene Fibrochondrogenesis type 1 NGS Genetic Test | COL2A1 Gene Test | COL1A1 Gene Test | Comprehensive Skeletal Dysplasia Panel |
|---|---|---|---|---|
| Comparison | COL11A1 Gene Fibrochondrogenesis type 1 NGS Genetic Test |
Frequently Asked Questions
What is Fibrochondrogenesis type 1?
Who should get this genetic test?
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What is the cost of the test?
Is home sample collection available?
How long does it take to get results?
What does a positive result mean?
Is genetic counseling included?
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Can this test be used for prenatal diagnosis?
What if the test result is negative?
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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.
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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