COL11A2 Gene Otospondylomegaepiphyseal dysplasia NGS Genetic Test
Short Name: COL11A2 NGS Test
Also known as: OSMED, COL11A2-related dysplasia, NGS for COL11A2
COL11A2 Gene Otospondylomegaepiphyseal dysplasia 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 Reports are typically available within 3 to 4 weeks after sample submission.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The primary purpose of this NGS genetic test is to confirm a clinical diagnosis of Otospondylomegaepiphyseal dysplasia by detecting mutations in the COL11A2 gene. It also helps in carrier testing for at-risk family members, prenatal diagnosis in subsequent pregnancies, and guiding personalized treatment plans. The test results can aid in differentiating OSMED from other similar skeletal dysplasias, thereby avoiding unnecessary procedures and ensuring timely intervention.
- Test Code
- 5890
- CPT Code
- 81407
- ICD Code
- Q87.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks after sample submission.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended to discuss the implications of the test and to draw a pedigree chart of affected family members.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.
Report Delivery
No restrictions. The sample will be sent to the laboratory for analysis.
Timeline: Reports are typically available within 3 to 4 weeks after sample submission.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this NGS genetic test is to confirm a clinical diagnosis of Otospondylomegaepiphyseal dysplasia by detecting mutations in the COL11A2 gene. It also helps in carrier testing for at-risk family members, prenatal diagnosis in subsequent pregnancies, and guiding personalized treatment plans. The test results can aid in differentiating OSMED from other similar skeletal dysplasias, thereby avoiding unnecessary procedures and ensuring timely intervention.
How to Prepare
- For blood sample: Use EDTA tube, mix gently to prevent clotting.
- For FTA card: Apply one drop of blood onto the designated circle, air dry for 30 minutes.
- Label the sample with patient name, date of birth, and collection date.
- Transport at ambient temperature (15-30°C) for FTA cards; blood samples should be shipped within 24 hours.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Otospondylomegaepiphyseal dysplasia is a rare autosomal recessive disorder caused by mutations in COL11A2. Early genetic confirmation is crucial for management and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Insufficient quantity
- Improper labeling
- Sample received after prolonged transit without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of OSMED; autosomal recessive inheritance expected.
Action: Genetic counseling, family testing, and management planning.
Likely pathogenic variant detected
High likelihood of disease; further evidence may be needed.
Action: Consider functional studies or family segregation analysis.
Variant of uncertain significance (VUS)
Insufficient evidence to classify; may or may not be disease-causing.
Action: Additional testing of family members or reclassification in future.
No pathogenic variant detected
No mutation found in COL11A2; other genetic causes may be considered.
Action: Consider broader gene panel or whole exome sequencing.
If you or your child experience symptoms such as hearing loss, short stature, joint abnormalities, or facial dysmorphism, consult a clinical geneticist or pediatrician for evaluation. Genetic testing is recommended for accurate diagnosis and management.
Limitations
- ⚠This test detects mutations only in the COL11A2 gene; other genes causing similar phenotypes are not analyzed.
- ⚠NGS may not detect large deletions/duplications or deep intronic variants; additional testing may be required if clinical suspicion is high.
- ⚠Variant of uncertain significance (VUS) may be reported; further family studies may be needed.
- ⚠Test does not assess the functional impact of variants.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for incidental findings
Interfering Factors
- ●Poor DNA quality from degraded samples
- ●Contamination during sample collection
- ●Incomplete clinical information may affect interpretation
- ●Rare variants of uncertain significance may require additional testing
Compare With Similar Tests
| Test | COL11A2 Gene Otospondylomegaepiphyseal dysplasia NGS Genetic Test | COL11A2 Gene Sequencing (Sanger) | Skeletal Dysplasia Panel (NGS) | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | COL11A2 Gene Otospondylomegaepiphyseal dysplasia NGS Genetic Test | Targeted single-gene sequencing is less comprehensive than NGS and may miss large deletions. | Includes multiple genes associated with skeletal dysplasias, broader coverage but higher cost. | Analyzes all coding regions; useful when diagnosis is unclear, but expensive and may yield incidental findings. |
Frequently Asked Questions
What is Otospondylomegaepiphyseal dysplasia?
What are the common symptoms of OSMED?
How is OSMED diagnosed?
What is the cost of the COL11A2 NGS test at DNA Labs India?
What sample is required for the test?
How long does it take to get the results?
Is fasting required before the test?
Can the test be done on children?
What does a positive test result mean?
What if the test result is negative?
Is genetic counseling provided?
In which cities is home sample collection available?
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₹20,000Reference Laboratory Services
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