COL2A1 Gene SMED Strudwick type NGS Genetic Test
Short Name: COL2A1 SMED NGS
Also known as: COL2A1 gene sequencing, SMED Strudwick type genetic test, Type II collagenopathy test
COL2A1 Gene SMED Strudwick type 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 Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.. 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 test is to confirm or rule out a diagnosis of SMED Strudwick type skeletal dysplasia by identifying pathogenic variants in the COL2A1 gene. It also aids in carrier testing, prenatal diagnosis in at-risk pregnancies, and providing prognostic information. The test helps clinicians differentiate between various type II collagenopathies, guiding tailored management plans.
- Test Code
- 5932
- CPT Code
- 81408
- ICD Code
- Q77.7
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.
- 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 test implications and obtain informed consent.
Method: Venipuncture or FTA card spot
Laboratory Analysis
A blood sample will be drawn by a trained phlebotomist. If using FTA card, a few drops of blood will be placed on the card.
Report Delivery
No specific aftercare is needed. The sample will be sent to the laboratory for analysis.
Timeline: Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this test is to confirm or rule out a diagnosis of SMED Strudwick type skeletal dysplasia by identifying pathogenic variants in the COL2A1 gene. It also aids in carrier testing, prenatal diagnosis in at-risk pregnancies, and providing prognostic information. The test helps clinicians differentiate between various type II collagenopathies, guiding tailored management plans.
How to Prepare
- Ensure the patient's identity is verified.
- Use sterile equipment for blood collection.
- If FTA card is used, allow the blood spot to dry completely before packaging.
- Label the sample with patient details and date of collection.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic confirmation of COL2A1 mutations is crucial for managing skeletal dysplasia and providing accurate recurrence risk counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of SMED Strudwick type skeletal dysplasia. Genetic counseling is recommended for family planning.
Likely pathogenic variant detected
Highly suggestive of the condition; further evidence may be needed for definitive classification.
Variant of uncertain significance (VUS)
Cannot be definitively classified; additional testing of family members may help clarify.
No pathogenic variant detected
No evidence of COL2A1-related disorder; other causes should be explored.
Consult a geneticist or pediatrician if your child shows signs of skeletal dysplasia, such as disproportionate short stature, bone abnormalities, or if there is a family history of COL2A1 mutations. Also, seek genetic counseling before undergoing this test.
Limitations
- ⚠This test detects variants in the COL2A1 gene only; other genes may cause similar phenotypes.
- ⚠NGS may not detect large deletions/duplications or deep intronic variants.
- ⚠Variant of uncertain significance (VUS) may require further family studies.
- ⚠Test does not assess non-genetic causes of skeletal dysplasia.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving a genetic diagnosis
- ●Potential for uncertain results (VUS) requiring further testing
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination during sample collection
- ●Presence of maternal cell contamination in prenatal samples
- ●Incomplete clinical information may affect interpretation
Compare With Similar Tests
| Test | COL2A1 Gene SMED Strudwick type NGS Genetic Test | Skeletal Dysplasia Panel | COL2A1 Targeted Mutation Analysis | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | COL2A1 Gene SMED Strudwick type NGS Genetic Test |
Frequently Asked Questions
What is the cost of the COL2A1 Gene SMED Strudwick type NGS Genetic Test?
What sample is required for this test?
Is fasting required before the test?
How long does it take to get results?
What does SMED Strudwick type skeletal dysplasia mean?
Who should consider this test?
Is genetic counseling included in the test?
Can this test be done during pregnancy?
What is the accuracy of NGS for this test?
Are there any risks associated with the test?
Will insurance cover the cost?
How do I book this test?
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