COL2A1 Gene Otospondylomegaepiphyseal dysplasia NGS Genetic Test
Short Name: COL2A1 NGS Test
Also known as: OSMED Genetic Test, COL2A1 Gene Sequencing, Type II Collagenopathy Panel
COL2A1 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 delivered within 3 to 4 weeks after the sample is received at the laboratory.. 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 COL2A1 gene NGS genetic test is to identify pathogenic mutations in the COL2A1 gene that are associated with Otospondylomegaepiphyseal dysplasia (OSMED). This test aids in confirming a clinical diagnosis, providing prognostic information, and enabling genetic counseling for affected families. It is also useful for prenatal diagnosis in at-risk pregnancies and for carrier testing in family members.
- Test Code
- 5892
- 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 delivered within 3 to 4 weeks after the sample is received at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting required. Please provide clinical history and pedigree chart. A genetic counseling session is recommended before the test.
Method: Venipuncture or FTA card spot
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. For FTA card, a drop of blood will be spotted on the card.
Report Delivery
No special precautions. You can resume normal activities immediately.
Timeline: Reports are typically delivered within 3 to 4 weeks after the sample is received at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the COL2A1 gene NGS genetic test is to identify pathogenic mutations in the COL2A1 gene that are associated with Otospondylomegaepiphyseal dysplasia (OSMED). This test aids in confirming a clinical diagnosis, providing prognostic information, and enabling genetic counseling for affected families. It is also useful for prenatal diagnosis in at-risk pregnancies and for carrier testing in family members.
How to Prepare
- For blood sample: Use EDTA vacutainer, mix gently.
- For FTA card: Apply one drop of blood onto the designated circle, air dry for 30 minutes.
- Label the sample with patient name, date, and unique ID.
- Transport at ambient temperature (15-25°C) within 24 hours.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for OSMED is crucial for accurate diagnosis and family planning. The COL2A1 NGS test provides comprehensive analysis of the gene, aiding in clinical management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample exposed to extreme temperatures
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of OSMED. Genetic counseling recommended for family planning.
Likely pathogenic variant detected
Highly suggestive of OSMED; further segregation analysis may be helpful.
Variant of uncertain significance (VUS)
Cannot determine clinical significance; additional testing of family members may be needed.
No pathogenic variant detected
Does not rule out OSMED; consider testing other genes or alternative diagnoses.
If you or your child have symptoms suggestive of OSMED, such as short stature, hearing loss, joint abnormalities, or skeletal dysplasia, consult a clinical geneticist or orthopedic specialist for evaluation and genetic testing.
Limitations
- ⚠This test detects mutations in the COL2A1 gene only; other genes may also cause similar phenotypes.
- ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be required.
- ⚠Variant of uncertain significance (VUS) may be reported; further family studies may be needed.
- ⚠Test does not assess non-coding regulatory regions beyond standard coverage.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for uncertain results (VUS)
Interfering Factors
- ●Contamination of sample with foreign DNA
- ●Insufficient DNA quantity or quality
- ●Presence of maternal cell contamination in prenatal samples
- ●Recent blood transfusion (for blood samples)
Compare With Similar Tests
| Test | COL2A1 Gene Otospondylomegaepiphyseal dysplasia NGS Genetic Test | COL2A1 Gene Sequencing (Sanger) | Skeletal Dysplasia Panel (NGS) |
|---|---|---|---|
| Comparison | COL2A1 Gene Otospondylomegaepiphyseal dysplasia NGS Genetic Test |
Frequently Asked Questions
What is Otospondylomegaepiphyseal dysplasia (OSMED)?
How is OSMED diagnosed?
What is the cost of the COL2A1 gene NGS test in India?
What sample is required for the test?
Is fasting required before the test?
How long does it take to get results?
Can the test be done during pregnancy?
What does a positive result mean?
What if the result is negative?
Is genetic counseling included?
Is home sample collection available?
Are there any risks associated with the test?
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₹20,000Reference 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.
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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