COL2A1 Gene Achondrogenesis type 2 NGS Genetic Test
COL2A1 Gene Achondrogenesis type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses 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.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 3, 2026
Overview
The purpose of this test is to diagnose Achondrogenesis type 2 by identifying mutations in the COL2A1 gene, enabling early detection, genetic counseling, and informed management of the condition.
- Test Code
- 5637
- 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
- NGS
Sample Collection
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with COL2A1 gene mutations are required before sample collection.
Method: Venipuncture or Saliva collection
Laboratory Analysis
Your sample is analyzed using NGS in our laboratory.
Report Delivery
A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose Achondrogenesis type 2 by identifying mutations in the COL2A1 gene, enabling early detection, genetic counseling, and informed management of the condition.
How to Prepare
- Sample can be blood, extracted DNA, or one drop of blood on FTA card
- Ensure proper labeling and handling of samples
- Follow standard phlebotomy or saliva collection procedures
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Understanding Your Results
Positive for COL2A1 mutation
Confirms diagnosis of Achondrogenesis type 2; genetic counseling recommended for family planning
Negative for COL2A1 mutation
No pathogenic variants detected; consider other genetic or clinical causes if symptoms persist
Variant of uncertain significance
Further testing or family studies may be needed for clarification
Consult a doctor if prenatal ultrasound shows skeletal abnormalities, if there is a family history of Achondrogenesis type 2, or if a newborn exhibits symptoms such as shortened limbs or respiratory distress.
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic diagnosis
Frequently Asked Questions
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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.
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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