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EXT1 Gene Chondrosarcoma, familial NGS Genetic Test

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EXT1 Gene Chondrosarcoma, familial NGS Genetic Test

Short Name: EXT1 Chondrosarcoma Genetic Test

Also known as: EXT1 Genetic Test for Chondrosarcoma, Familial Chondrosarcoma NGS Test

EXT1 Gene Chondrosarcoma, familial NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.

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 7, 2026

Overview

To detect mutations in the EXT1 gene associated with familial chondrosarcoma, aiding in diagnosis, risk assessment, and genetic counselling.

Test Code
2378
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Results are typically available within 3 to 4 weeks after sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS) Technology
Step 1

Sample Collection

Genetic counselling session recommended to discuss family history and test implications.

Method: Venipuncture or finger-prick for FTA card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card; minimal discomfort expected.

Step 3

Report Delivery

Sample is processed and sent for NGS analysis; results are reviewed by a geneticist.

Timeline: Results are typically available within 3 to 4 weeks after sample receipt.

Patient Instructions

1
Before the Test:Schedule a genetic counselling session to understand the test, implications, and provide informed consent.
2
During the Test:Sample collection is quick and non-invasive; performed at home or a lab with minimal risk.
3
After the Test:Await results in 3-4 weeks; follow up with a geneticist or doctor for interpretation and next steps.

About This Test

Who Should Get This Test

To detect mutations in the EXT1 gene associated with familial chondrosarcoma, aiding in diagnosis, risk assessment, and genetic counselling.

How to Prepare

  • No fasting required for this test
  • Bring clinical history and family pedigree if available
  • Ensure proper labeling of sample

Doctor's Notes

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

"Early detection of EXT1 gene mutations through NGS testing can inform treatment strategies and genetic counselling 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 for FTA card

Sample Stability

Blood sample: stable at room temperature for 24 hours
FTA card: stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Incorrectly labeled sample

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the EXT1 gene, which are associated with familial chondrosarcoma.
📊

Negative

No pathogenic EXT1 gene mutations detected; reduced genetic risk for familial chondrosarcoma, but clinical correlation is essential.

📊

Positive

Pathogenic EXT1 gene mutation identified; indicates increased risk for chondrosarcoma and warrants further genetic counselling and monitoring.

⚠️ When to Consult a Doctor:

Consult a doctor or genetic counsellor if you experience symptoms of chondrosarcoma, have a family history of the condition, or receive positive test results.

Limitations

  • ⚠Test is specific to EXT1 gene; other chondrosarcoma-related genes are not analyzed
  • ⚠Cannot detect all genetic variants; rare mutations may be missed
  • ⚠Results should be interpreted in clinical context by a specialist

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Potential psychological impact from genetic results
  • ●Risk of genetic discrimination in rare cases

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Hemolyzed blood sample
  • ●Recent blood transfusions may affect results

Compare With Similar Tests

TestEXT1 Gene Chondrosarcoma, familial NGS Genetic TestEXT2 Gene Chondrosarcoma NGS TestHereditary Cancer Gene PanelBone Cancer Biomarker TestWhole Exome Sequencing
ComparisonEXT1 Gene Chondrosarcoma, familial NGS Genetic Test

Frequently Asked Questions

What is the EXT1 Gene Chondrosarcoma NGS Genetic Test?
It is a next-generation sequencing test that analyzes the EXT1 gene for mutations associated with familial chondrosarcoma, a type of bone cancer.
Who should consider this test?
Individuals with symptoms of chondrosarcoma, a family history of the disease, or those diagnosed with chondrosarcoma seeking genetic confirmation.
What are the symptoms of EXT1 Gene Chondrosarcoma?
Symptoms include bone pain, swelling, difficulty moving joints, fractures without injury, and numbness in affected areas.
How is the test performed?
A blood sample or one drop on an FTA card is collected and analyzed using NGS technology to detect EXT1 gene mutations.
What is the cost of the test in India?
The test costs INR 20000, which includes sample collection, genetic counselling, and report delivery.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across many cities in India.
How long does it take to get results?
Results are typically delivered within 3 to 4 weeks after the sample is received by the lab.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the EXT1 gene, increasing the risk for chondrosarcoma and requiring further medical consultation.
Is genetic counselling required before the test?
Yes, a genetic counselling session is recommended to discuss family history, test implications, and interpret results.
Is the test covered by insurance?
Coverage varies; it is advisable to check with your insurance provider for specific scheme eligibility.
What are the risks of the test?
Risks are minimal, mainly related to blood draw, such as bruising. Genetic results may have psychological implications.
How accurate is the NGS technology for this test?
NGS is highly accurate for detecting known mutations, but all genetic tests have limitations; results should be interpreted by a specialist.
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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