COL2A1 Gene Kniest dysplasia NGS Genetic Test
Short Name: COL2A1 Kniest Dysplasia NGS
Also known as: COL2A1 Gene Sequencing, Kniest Dysplasia Genetic Test, Type II Collagen Gene Test
COL2A1 Gene Kniest 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 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 the COL2A1 Gene Kniest Dysplasia NGS Genetic Test is to detect mutations in the COL2A1 gene that are responsible for Kniest dysplasia. This test is indicated for individuals presenting with clinical features suggestive of the disorder, such as disproportionate short stature, skeletal dysplasia, joint contractures, and characteristic facial features. It also serves to confirm a clinical diagnosis, differentiate Kniest dysplasia from other type II collagenopathies, and provide essential information for genetic counseling, reproductive planning, and management of associated complications.
- Test Code
- 5818
- 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
- Reports 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 mandatory before the test to draw a pedigree chart and discuss the implications.
Method: Venipuncture or Finger-prick
Laboratory Analysis
Blood sample is collected by a trained phlebotomist. For FTA card, a simple finger-prick is sufficient.
Report Delivery
No specific aftercare is needed. The sample is sent to the laboratory for analysis.
Timeline: Reports 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 the COL2A1 Gene Kniest Dysplasia NGS Genetic Test is to detect mutations in the COL2A1 gene that are responsible for Kniest dysplasia. This test is indicated for individuals presenting with clinical features suggestive of the disorder, such as disproportionate short stature, skeletal dysplasia, joint contractures, and characteristic facial features. It also serves to confirm a clinical diagnosis, differentiate Kniest dysplasia from other type II collagenopathies, and provide essential information for genetic counseling, reproductive planning, and management of associated complications.
How to Prepare
- Ensure the patient's clinical history and pedigree chart are provided.
- Use EDTA tube for blood collection; mix gently to prevent clotting.
- For FTA card, apply one drop of blood on the designated circle and allow to air dry.
- Label the sample with patient's name, date of birth, and collection date.
- Transport the sample at ambient temperature to the laboratory.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Kniest dysplasia is a rare skeletal dysplasia caused by COL2A1 mutations. Early genetic confirmation is crucial for management and 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 received after prolonged delay without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Kniest dysplasia. Genetic counseling is recommended for the family.
Likely pathogenic variant detected
Highly suggestive of disease; further familial testing may be advised.
Variant of uncertain significance (VUS)
Cannot determine clinical significance; additional testing or segregation analysis may be needed.
No pathogenic variant detected
Does not rule out Kniest dysplasia; other genetic causes or non-genetic conditions should be considered.
If you or your child experience symptoms such as short stature, joint pain, skeletal deformities, or a family history of Kniest dysplasia, consult a clinical geneticist or pediatrician for evaluation and testing.
Limitations
- ⚠This test detects mutations in the COL2A1 gene only; other genes associated with skeletal dysplasias 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 familial segregation studies may be needed.
- ⚠Test results should be interpreted in the context of clinical and radiological findings.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving genetic results
- ●Potential for uncertain results (VUS) requiring further testing
Interfering Factors
- ●Contamination of sample with maternal cells in prenatal testing
- ●Incomplete clinical information may affect interpretation
- ●Rare variants of uncertain significance may require additional testing
Compare With Similar Tests
| Test | COL2A1 Gene Kniest dysplasia NGS Genetic Test | COL2A1 Gene Sequencing (Sanger) | Skeletal Dysplasia Panel (NGS) |
|---|---|---|---|
| Comparison | COL2A1 Gene Kniest dysplasia NGS Genetic Test |
Frequently Asked Questions
What is Kniest dysplasia?
How is Kniest dysplasia diagnosed?
What is the cost of the COL2A1 gene NGS test in India?
What sample is required for this test?
Is fasting required before the test?
How long does it take to get the report?
Is home sample collection available?
What does the test detect?
Can this test be done for prenatal diagnosis?
What if the result is negative?
Is genetic counseling included?
Are there any risks associated with the test?
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