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COL2A1 Gene Czech dysplasia NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

COL2A1 Gene Czech dysplasia NGS Genetic Test

Short Name: Czech Dysplasia NGS Test

Also known as: Czech Dysplasia, COL2A1-related disorder

COL2A1 Gene Czech dysplasia NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next Generation Sequencing) on Blood, Extracted DNA, FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 3, 2026

Overview

The purpose of this test is to diagnose Czech dysplasia by identifying pathogenic mutations in the COL2A1 gene using Next Generation Sequencing (NGS) technology, aiding in clinical management and genetic counseling.

Test Code
4887
Price
₹20,000
Sample Type
Blood, Extracted DNA, FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS (Next Generation Sequencing)
Step 1

Sample Collection

Provide detailed clinical history and undergo genetic counseling to draw a pedigree chart.

Step 2

Laboratory Analysis

A blood sample will be collected by a trained phlebotomist using sterile techniques.

Step 3

Report Delivery

The sample will be labeled and transported to the laboratory for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are required before sample collection.
2
During the Test:Blood sample collection and processing for NGS analysis.
3
After the Test:Results are reviewed by geneticists and reported with interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose Czech dysplasia by identifying pathogenic mutations in the COL2A1 gene using Next Generation Sequencing (NGS) technology, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure patient identification
  • Use appropriate collection tubes
  • Follow aseptic procedures

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"This NGS test provides a definitive diagnosis for Czech dysplasia, enabling early intervention and family planning counseling."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, FTA Card

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods
Sample Rejection Criteria:
  • Hemolyzed or insufficient sample
  • Improper labeling
  • Contaminated sample

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the COL2A1 gene, which are associated with Czech dysplasia.
Positive: Pathogenic variant detected, consistent with Czech dysplasia diagnosis.
Negative: No pathogenic variants detected; clinical symptoms may require further evaluation.
Variant of uncertain significance (VUS): Genetic counseling recommended for guidance.
⚠️ When to Consult a Doctor:

Consult a geneticist or orthopedic specialist if symptoms persist, worsen, or for family planning advice.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Results require clinical correlation
  • ⚠Genetic counseling recommended for interpretation

Risks & Considerations

  • ●Minimal physical risk from blood draw
  • ●Potential psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA

Compare With Similar Tests

TestCOL2A1 Gene Czech dysplasia NGS Genetic TestWhole Exome SequencingSanger Sequencing
ComparisonCOL2A1 Gene Czech dysplasia NGS Genetic Test

Frequently Asked Questions

What is Czech dysplasia?
Czech dysplasia is a rare genetic disorder affecting bone and joint development, caused by mutations in the COL2A1 gene.
What causes Czech dysplasia?
It is caused by mutations in the COL2A1 gene, which provides instructions for making type II collagen essential for bone and connective tissue development.
What are the symptoms of Czech dysplasia?
Common symptoms include short stature, abnormal spinal curvature, joint pain and stiffness, enlarged joints, flat feet, and difficulty walking.
How is Czech dysplasia diagnosed?
Diagnosis is typically through genetic testing, such as NGS, to identify mutations in the COL2A1 gene.
What is the COL2A1 gene?
The COL2A1 gene encodes type II collagen, a protein crucial for the normal development of bones and other connective tissues.
What is NGS genetic testing?
Next Generation Sequencing (NGS) is a advanced genetic testing method that analyzes DNA sequences to detect mutations accurately.
What is the cost of the test?
The COL2A1 Gene Czech Dysplasia NGS Genetic Test costs INR 20000 at DNA Labs India, including test fees and consultation.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What should I do before the test?
Provide clinical history and undergo genetic counseling to draw a pedigree chart of affected family members.
Are there any risks associated with the test?
Risks are minimal, primarily related to blood draw, with possible psychological impact of results.
How can I interpret the results?
Results should be interpreted by a geneticist or healthcare provider; positive results indicate mutations associated with Czech dysplasia.
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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For Hospitals & Clinics

Reference 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.

LIMS Integration

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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