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COL2A1 Gene SED congenita NGS Genetic Test

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COL2A1 Gene SED congenita NGS Genetic Test

Short Name: COL2A1 SED NGS

Also known as: COL2A1 Gene Sequencing, SED Congenita Genetic Test, Type II Collagen Gene Test

COL2A1 Gene SED congenita 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 sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic TestPediatric, Adult🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify disease-causing mutations in the COL2A1 gene in individuals suspected of having SED congenita. It aids in confirming the clinical diagnosis, differentiating from other skeletal dysplasias, assessing recurrence risk, and providing information for family planning. The test also helps in predicting disease severity and guiding surveillance for complications such as spinal cord compression, osteoarthritis, and ophthalmologic issues.

Test Code
5924
CPT Code
81407
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 delivered within 3 to 4 weeks after sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. However, a clinical history and genetic counseling session are recommended before the test.

Method: Venipuncture or FTA card spot

Step 2

Laboratory Analysis

Blood sample is drawn by a trained phlebotomist. For FTA card, a drop of blood is placed on the card and allowed to dry.

Step 3

Report Delivery

No specific precautions. The sample is transported to the laboratory at ambient temperature.

Timeline: Reports are typically delivered within 3 to 4 weeks after sample receipt.

Patient Instructions

1
Before the Test:No fasting required. However, a genetic counseling session is recommended to discuss the implications of the test.
2
During the Test:A blood sample will be collected. The procedure is quick and minimally invasive.
3
After the Test:You can resume normal activities immediately. Results will be available in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to identify disease-causing mutations in the COL2A1 gene in individuals suspected of having SED congenita. It aids in confirming the clinical diagnosis, differentiating from other skeletal dysplasias, assessing recurrence risk, and providing information for family planning. The test also helps in predicting disease severity and guiding surveillance for complications such as spinal cord compression, osteoarthritis, and ophthalmologic issues.

How to Prepare

  • Ensure the patient's identity is verified.
  • Use sterile equipment for blood collection.
  • If using FTA card, allow the blood spot to dry completely before packaging.
  • Label the sample with patient details and date of collection.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"COL2A1 mutations can present with variable severity. Early genetic confirmation helps in management and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood or 1 FTA card spot
ContainerEDTA vacutainer or FTA card
Collection MethodVenipuncture or FTA card spot

Sample Stability

Blood in EDTA
Extracted DNA
FTA card
Sample Rejection Criteria:
  • Hemolyzed blood sample
  • Clotted blood sample
  • Insufficient sample volume
  • Improperly labeled sample
  • Sample received after prolonged transit time

Understanding Your Results

The test report will indicate whether a pathogenic variant in the COL2A1 gene was identified. If a variant is found, it will be classified according to ACMG guidelines. A negative result does not completely rule out SED congenita, as mutations in other genes or non-coding regions may be responsible.
📊

Pathogenic variant detected

Confirms diagnosis of SED congenita or COL2A1-related disorder. Genetic counseling recommended.

📊

Likely pathogenic variant detected

High likelihood of disease; further evidence may be needed. Clinical correlation advised.

📊

Variant of uncertain significance (VUS)

Cannot determine clinical significance. Additional family studies may be helpful.

📊

No pathogenic variant detected

No mutation found in COL2A1 gene. Other genetic causes should be considered.

⚠️ When to Consult a Doctor:

Consult a geneticist or pediatrician if you or your child have symptoms suggestive of SED congenita, such as short stature, skeletal abnormalities, or joint issues. Early diagnosis can help in managing complications and planning for the future.

Limitations

  • ⚠This test detects mutations in the COL2A1 gene only; other genes may cause similar phenotypes.
  • ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be required.
  • ⚠Variant of uncertain significance (VUS) may require further family studies.
  • ⚠Test does not predict disease severity or progression.

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

  • ●Poor DNA quality or quantity
  • ●Contamination during sample collection
  • ●Presence of maternal cell contamination in prenatal samples
  • ●Incomplete coverage of the gene due to technical limitations

Compare With Similar Tests

TestCOL2A1 Gene SED congenita NGS Genetic TestCOL2A1 Gene Sequencing (Sanger)Skeletal Dysplasia PanelWhole Exome Sequencing
ComparisonCOL2A1 Gene SED congenita NGS Genetic Test

Frequently Asked Questions

What is SED congenita?
Spondyloepiphyseal dysplasia congenita (SED congenita) is a rare genetic disorder affecting bone growth, leading to short stature, skeletal abnormalities, and joint problems. It is caused by mutations in the COL2A1 gene.
How is the COL2A1 gene test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the COL2A1 gene for mutations. A blood sample or FTA card spot is collected and sent to the laboratory.
What is the cost of the test?
The cost is INR 20,000 at DNA Labs India, which includes free home sample collection in many cities.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after the sample is received.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the COL2A1 gene, confirming the diagnosis of SED congenita or a related disorder.
Can this test be done on children?
Yes, the test is suitable for children and adults. It is often performed in pediatric patients with suspected skeletal dysplasia.
Is genetic counseling included?
Yes, a genetic counseling session is included to discuss the implications of the test and draw a pedigree chart.
What is the sample type?
The sample can be blood, extracted DNA, or one drop of blood on an FTA card.
Are there any risks associated with the test?
The test is safe with minimal risks, such as slight bruising at the blood draw site.
Will insurance cover the test?
Insurance coverage is not guaranteed. It is advisable to check with your insurance provider.
What if the result is negative?
A negative result means no mutation was found in the COL2A1 gene. However, other genetic causes may still be possible, and further testing may be recommended.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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