COL2A1 Gene Spondyloperipheral dysplasia NGS Genetic Test
Short Name: COL2A1 SPD NGS Test
Also known as: COL2A1 Gene Test, Spondyloperipheral Dysplasia Genetic Test, COL2A1 NGS Test
COL2A1 Gene Spondyloperipheral 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 3 to 4 weeks. 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 purpose of this test is to identify pathogenic mutations in the COL2A1 gene that cause Spondyloperipheral dysplasia. It aids in confirming clinical diagnosis, enabling early intervention, and providing accurate genetic counseling for affected families.
- Test Code
- 5941
- CPT Code
- 81408
- ICD Code
- Q77.8
- 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
No fasting required. Provide clinical history and pedigree chart. Genetic counseling session is recommended.
Method: Venipuncture or FTA card spot
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. For FTA card, a drop of blood is applied.
Report Delivery
No special precautions. The sample will be transported to the lab for analysis.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic mutations in the COL2A1 gene that cause Spondyloperipheral dysplasia. It aids in confirming clinical diagnosis, enabling early intervention, and providing accurate genetic counseling for affected families.
How to Prepare
- Ensure the sample is labeled correctly with patient details.
- For blood, use EDTA tube and mix gently.
- For FTA card, allow the spot to dry completely before packaging.
- Maintain sample at ambient temperature during transport.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for COL2A1 mutations is essential for confirming SPD diagnosis and enabling accurate family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample exposed to extreme temperatures
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Spondyloperipheral dysplasia. Genetic counseling recommended.
Likely pathogenic variant detected
Highly suggestive of SPD; further testing may be needed for confirmation.
Variant of uncertain significance (VUS)
Cannot determine clinical significance; additional family studies may help.
No pathogenic variant detected
Does not rule out SPD; other genetic causes may be considered.
Consult a geneticist or orthopedic specialist if you or your child have symptoms suggestive of SPD, or if you have a family history of COL2A1-related conditions.
Limitations
- ⚠This test detects mutations in the COL2A1 gene only; other genes may be involved in similar phenotypes.
- ⚠NGS may not detect large deletions/duplications or deep intronic variants.
- ⚠Variant interpretation may require additional familial testing.
- ⚠Results should be interpreted in the context of clinical findings.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for uncertain results
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Incomplete clinical information
- ●Presence of maternal cell contamination (if prenatal)
- ●Rare variants of uncertain significance
Compare With Similar Tests
| Test | COL2A1 Gene Spondyloperipheral dysplasia NGS Genetic Test | COL2A1 Gene Sequencing (Sanger) | Skeletal Dysplasia Panel (NGS) | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | COL2A1 Gene Spondyloperipheral dysplasia NGS Genetic Test | Targeted single-gene sequencing; lower throughput, may miss large deletions. | Analyzes multiple genes including COL2A1; broader coverage but higher cost. | Comprehensive analysis of all exons; most extensive but expensive. |
Frequently Asked Questions
What is Spondyloperipheral dysplasia?
How is the COL2A1 gene test performed?
What is the cost of the test?
Do I need to fast before the test?
What sample is needed?
How long does it take to get results?
Can this test detect carriers of the mutation?
Is genetic counseling included?
Is home sample collection available?
What does a positive result mean?
Are there any risks associated with the test?
Can this test be done for prenatal diagnosis?
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₹7,000Reference 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.
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✓ 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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