COL11A1 Gene Fibrochondrogenesis type 1 NGS Genetic Test
Short Name: COL11A1 Fibrochondrogenesis Test
Also known as: Fibrochondrogenesis type 1, COL11A1-related disorder, Skeletal dysplasia
COL11A1 Gene Fibrochondrogenesis type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS, Next-Generation Sequencing 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 7, 2026
Overview
The purpose of the COL11A1 Gene Fibrochondrogenesis type 1 NGS Genetic Test is to detect mutations in the COL11A1 gene that cause fibrochondrogenesis type 1, a rare skeletal disorder. This test aids in accurate diagnosis, differential diagnosis from other skeletal dysplasias, genetic counseling, and family planning. It is recommended for individuals with symptoms such as joint pain, short stature, or facial abnormalities, or those with a family history of the condition.
- Test Code
- 4937
- 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, Next-Generation Sequencing
Sample Collection
No specific preparation required. Provide clinical history and family pedigree chart as advised during genetic counseling.
Method: Venipuncture or FTA Card spot
Laboratory Analysis
Blood sample collected via venipuncture or one drop on FTA card. Ensure proper labeling and handling.
Report Delivery
Apply pressure to the puncture site. Store samples at ambient room temperature as per instructions.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the COL11A1 Gene Fibrochondrogenesis type 1 NGS Genetic Test is to detect mutations in the COL11A1 gene that cause fibrochondrogenesis type 1, a rare skeletal disorder. This test aids in accurate diagnosis, differential diagnosis from other skeletal dysplasias, genetic counseling, and family planning. It is recommended for individuals with symptoms such as joint pain, short stature, or facial abnormalities, or those with a family history of the condition.
How to Prepare
- Fast for 8-12 hours if specified, though not required for this test
- Bring identification and prescription
- Inform about any medications or health conditions
- Follow aseptic techniques during collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing is crucial for early diagnosis and management of rare disorders like Fibrochondrogenesis, especially in families with a history of skeletal abnormalities."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Incorrect labeling
- Contaminated samples
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of fibrochondrogenesis type 1. Genetic counseling recommended.
No pathogenic variant detected
Does not rule out the condition; consider other genetic or clinical tests.
Variant of uncertain significance
Further testing and family studies may be needed for clarification.
Consult a healthcare provider if you or a family member exhibit symptoms such as joint pain, short stature, or facial abnormalities, or if there is a known family history of fibrochondrogenesis. Genetic counseling is advised before and after testing.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or duplications
- ⚠Requires genetic counseling for interpretation
- ⚠Results should be correlated with clinical findings
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection
- ●Psychological impact of genetic results
- ●Potential for uncertain results requiring further testing
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Hemolyzed blood samples
- ●Improper sample storage
Compare With Similar Tests
| Test | COL11A1 Gene Fibrochondrogenesis type 1 NGS Genetic Test | Sanger Sequencing | PCR Analysis | Whole Exome Sequencing | Skeletal Dysplasia Panel |
|---|---|---|---|---|---|
| Comparison | COL11A1 Gene Fibrochondrogenesis type 1 NGS Genetic Test |
Frequently Asked Questions
What is the COL11A1 Gene Fibrochondrogenesis type 1 NGS Genetic Test?
What is the cost of this test in India?
What sample is required for the test?
Is fasting required before the test?
How long does it take to get the results?
Is home sample collection available?
What are the symptoms of COL11A1 Gene Fibrochondrogenesis type 1?
Who should consider this test?
What does a positive result mean?
What if the result is negative?
Is genetic counseling provided?
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₹20,000Reference Laboratory Services
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