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COL2A1 Gene Achondrogenesis type 2 NGS Genetic Test

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COL2A1 Gene Achondrogenesis type 2 NGS Genetic Test

Short Name: COL2A1 Achondrogenesis Type 2 Test

Also known as: COL2A1-related achondrogenesis, Type II achondrogenesis, Achondrogenesis type 2 genetic test

COL2A1 Gene Achondrogenesis type 2 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.

NGS Genetic TestAll ages, including prenatal and neonatal🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To identify mutations in the COL2A1 gene that cause achondrogenesis type 2, aiding in diagnosis, genetic counseling, and family planning.

Test Code
4805
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)
Step 1

Sample Collection

No special preparation required. Genetic counseling is recommended before testing.

Method: Venipuncture or Finger prick

Step 2

Laboratory Analysis

A blood sample will be drawn by a trained phlebotomist using sterile equipment.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Keep the area clean.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling is recommended to understand the implications of testing and results.
2
During the Test:Sample collection and analysis are performed in the laboratory using NGS technology.
3
After the Test:Results will be available in 3-4 weeks and can be accessed online or via email/WhatsApp.

About This Test

Who Should Get This Test

To identify mutations in the COL2A1 gene that cause achondrogenesis type 2, aiding in diagnosis, genetic counseling, and family planning.

How to Prepare

  • Ensure proper patient identification
  • Use appropriate collection tubes or FTA cards
  • Label samples correctly
  • Transport samples at ambient temperature

Doctor's Notes

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

"Early genetic testing for achondrogenesis type 2 can aid in timely diagnosis, management, and genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or Finger prick

Sample Stability

Blood sample stable for 48 hours at room temperature
FTA card stable for several years if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improper labeling or contamination

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the COL2A1 gene associated with achondrogenesis type 2.
📊

Pathogenic variant detected

Confirms diagnosis of achondrogenesis type 2. Genetic counseling recommended for management and family planning.

📊

No pathogenic variant detected

Achondrogenesis type 2 is unlikely, but clinical correlation is needed. Consider other genetic or non-genetic causes.

📊

Variant of uncertain significance

Further testing or family studies may be required. Consult a genetic counselor for guidance.

⚠️ When to Consult a Doctor:

If symptoms of achondrogenesis type 2 are present, for genetic counseling, or if there is a family history of the disorder.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions
  • ⚠Requires interpretation by a genetic specialist
  • ⚠Results may have variants of uncertain significance

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results
  • ●Potential for uncertain findings requiring further evaluation

Interfering Factors

  • ●Sample degradation or contamination
  • ●Insufficient DNA quality
  • ●Technical errors in sequencing

Compare With Similar Tests

TestCOL2A1 Gene Achondrogenesis type 2 NGS Genetic Test
ComparisonCOL2A1 Gene Achondrogenesis type 2 NGS Genetic Test

Frequently Asked Questions

What is achondrogenesis type 2?
Achondrogenesis type 2 is a rare genetic disorder that affects bone development, leading to short limbs, a small chest, and a soft skull. It is caused by mutations in the COL2A1 gene.
What causes achondrogenesis type 2?
It is caused by mutations in the COL2A1 gene, which provides instructions for making type II collagen, essential for cartilage and bone formation.
What are the symptoms of achondrogenesis type 2?
Symptoms include short limbs, a small chest, a soft skull, underdeveloped lungs, abnormal spinal curvature, limited joint movement, and distinct facial features like a small jaw.
How is achondrogenesis type 2 diagnosed?
Diagnosis can be made prenatally through ultrasound or genetic testing, and postnatally via physical exam, X-rays, and genetic confirmation using tests like NGS.
What is the COL2A1 gene?
The COL2A1 gene provides instructions for producing type II collagen, a protein found in cartilage and other tissues. Mutations in this gene can lead to achondrogenesis type 2.
What is NGS genetic testing?
Next-generation sequencing (NGS) is a advanced genetic test that analyzes entire genes or gene panels to identify mutations. It is used for comprehensive diagnosis of genetic disorders.
What is the cost of the COL2A1 gene test?
The cost of the COL2A1 Gene Achondrogenesis Type 2 NGS Genetic Test at DNA Labs India is INR 20,000, with free home sample collection available.
How is the sample collected for this test?
The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card. Collection is done via venipuncture or finger prick.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
What should I do if I suspect achondrogenesis type 2?
Consult a healthcare provider or genetic counselor for evaluation. Genetic testing can confirm the diagnosis and guide management.
Is genetic counseling recommended before testing?
Yes, genetic counseling is recommended to understand the test implications, results, and for family planning purposes.
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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