Skip to main content
DNA Labs India

EXT1 Gene Exostoses, multiple, type 1 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

EXT1 Gene Exostoses, multiple, type 1 NGS Genetic Test

Short Name: EXT1 Gene Test

Also known as: Hereditary Multiple Exostoses, Multiple Exostoses Type 1

EXT1 Gene Exostoses, multiple, type 1 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.

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 identify mutations in the EXT1 gene that cause hereditary multiple exostoses type 1, aiding in diagnosis, genetic counseling, and personalized treatment planning.

Test Code
4934
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. Provide detailed clinical history and family pedigree during genetic counseling.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample via venipuncture or a finger prick for FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store samples as instructed for stability.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss family history and draw a pedigree chart. No fasting required.
2
During the Test:Blood sample collection using standard phlebotomy techniques. The process is quick and minimally invasive.
3
After the Test:Sample sent to the laboratory for NGS analysis. Monitor the puncture site for any signs of infection.

About This Test

Who Should Get This Test

To identify mutations in the EXT1 gene that cause hereditary multiple exostoses type 1, aiding in diagnosis, genetic counseling, and personalized treatment planning.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Label samples accurately with patient details
  • Follow kit instructions for FTA card collection

Doctor's Notes

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

"Genetic testing for EXT1 mutations is essential for early diagnosis and management of hereditary multiple exostoses, especially in families with a history of the condition."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood samples stable at room temperature for up to 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Contaminated or mislabeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the EXT1 gene, which are associated with hereditary multiple exostoses type 1.
📊

Positive for pathogenic variant

Confirms diagnosis of hereditary multiple exostoses type 1. Genetic counseling and clinical management recommended.

📊

Negative for pathogenic variant

No pathogenic variants detected in the EXT1 gene. Clinical correlation and consideration of other genes like EXT2 may be needed.

📊

Variant of uncertain significance (VUS)

A genetic variant was found but its clinical significance is unknown. Further testing or family studies may be required for clarification.

⚠️ When to Consult a Doctor:

Consult a geneticist or orthopedic specialist if you experience symptoms like multiple bone tumors, joint pain, or have a family history of hereditary multiple exostoses for appropriate testing and management.

Limitations

  • ⚠May not detect all types of genetic mutations, such as large deletions
  • ⚠Results require interpretation by a genetic counselor or specialist
  • ⚠Cannot predict disease severity or progression

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Very low risk of infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Incorrect sample handling

Frequently Asked Questions

What is the EXT1 Gene Exostoses Test?
It is a genetic test that uses Next-Generation Sequencing (NGS) to analyze the EXT1 gene for mutations causing hereditary multiple exostoses type 1.
Why is this test recommended?
This test is recommended for individuals with symptoms of multiple exostoses, such as bone tumors or joint pain, or those with a family history of the disorder, to confirm diagnosis and guide treatment.
How is the test performed?
The test involves collecting a blood or saliva sample, which is then analyzed in a laboratory using NGS technology to detect mutations in the EXT1 gene.
What is the cost of the test?
The cost of the EXT1 Gene Exostoses Test in India is INR 20,000, which includes sample collection and analysis.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across many cities in India, including Mumbai, Delhi, Bangalore, and others.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results mean?
Results can be positive (pathogenic variant detected), negative (no variant detected), or show a variant of uncertain significance. A genetic counselor will help interpret the findings.
Are there any risks associated with the test?
The test involves minimal risks, such as minor bruising from blood draw. Genetic results may have emotional implications, so counseling is provided.
Can this test be used for prenatal diagnosis?
This test is primarily for diagnostic purposes in symptomatic individuals. For prenatal testing, consult a genetic specialist for appropriate options.
What is the difference between EXT1 and EXT2 gene tests?
EXT1 and EXT2 are different genes associated with hereditary multiple exostoses. This test specifically targets EXT1 mutations, while EXT2 tests analyze the other gene.
How accurate is the test?
NGS technology provides high accuracy for detecting mutations in the EXT1 gene, but results should be correlated with clinical findings by a healthcare professional.
What should I do after receiving the results?
Discuss the results with a genetic counselor or doctor to understand implications, management options, and potential family screening.
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.

Related Tests

WISP3 Gene Arthropathy, progressive pseudorheumatoid, of childhood NGS Genetic Test

₹20,000

FLNB Gene Atelosteogenesis type 3 NGS Genetic Test

₹20,000

FLNB Gene Atelosteogenesis type 1 NGS Genetic Test

₹20,000

EBP Gene Chondrodysplasia punctata, X-linked dominant NGS Genetic Test

₹20,000

COL11A1 Gene Marshall syndrome NGS Genetic Test

₹20,000

ACTN3 (Sports Gene) Genotyping Test

₹7,000
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.