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CANT1 Gene Desbuquois dysplasia type 1 NGS Genetic Test

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CANT1 Gene Desbuquois dysplasia type 1 NGS Genetic Test

Short Name: CANT1 Gene Desbuquois Dysplasia Test

Also known as: Desbuquois dysplasia type 1 genetic test, CANT1 mutation analysis, Bone growth disorder genetic test

CANT1 Gene Desbuquois dysplasia 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.

PediatricsPediatric🏠 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

The purpose of this test is to detect mutations in the CANT1 gene to diagnose Desbuquois dysplasia type 1, a rare genetic disorder affecting bone growth. It aids in confirming clinical suspicion, guiding treatment, and providing genetic counseling for family planning.

Test Code
2719
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 specific preparation required. Ensure clinical history and family pedigree are documented as per pre-test information.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn by a trained phlebotomist. For FTA card, a drop of blood is applied.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Store sample at ambient room temperature as specified.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:No fasting required. Provide clinical history and undergo genetic counseling session to draw a pedigree chart.
2
During the Test:Blood sample collection via venipuncture or FTA card. Test uses NGS technology for analysis.
3
After the Test:Sample processed in lab. Reports delivered in 3-4 weeks via online portal, email, or WhatsApp.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the CANT1 gene to diagnose Desbuquois dysplasia type 1, a rare genetic disorder affecting bone growth. It aids in confirming clinical suspicion, guiding treatment, and providing genetic counseling for family planning.

How to Prepare

  • Provide accurate clinical history and family details
  • Ensure sample is labeled correctly
  • Avoid hemolysis during blood draw
  • Use appropriate container for sample type

Doctor's Notes

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

"Early genetic testing for Desbuquois dysplasia type 1 can guide treatment decisions and family planning, especially in cases with suspected skeletal abnormalities."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 ml blood
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Ambient Room TemperatureStable for 24 hours for blood; longer for extracted DNA
Sample Rejection Criteria:
  • Sample hemolyzed or clotted
  • Incorrect labeling or insufficient volume
  • Sample contaminated or improperly stored

Understanding Your Results

Results indicate whether pathogenic mutations in the CANT1 gene are detected. A positive result confirms Desbuquois dysplasia type 1, while a negative result may require further testing if clinical suspicion remains high.
📊

Mutation Detected

Confirms diagnosis of Desbuquois dysplasia type 1. Genetic counseling recommended for management and family planning.

📊

No Mutation Detected

CANT1 gene mutations not found. Consider other genetic or clinical causes. Repeat testing or additional tests may be advised.

⚠️ When to Consult a Doctor:

Consult a geneticist or pediatric specialist if symptoms such as short stature, scoliosis, or joint issues are present, or if family history suggests a genetic disorder.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or duplications
  • ⚠Requires genetic counseling for proper interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●No significant risks associated with genetic testing itself

Interfering Factors

  • ●Poor sample quality or insufficient DNA
  • ●Contamination during sample collection or processing
  • ●Recent blood transfusions may affect DNA analysis

Frequently Asked Questions

What is Desbuquois dysplasia type 1?
It is a rare genetic disorder caused by mutations in the CANT1 gene, leading to abnormal bone growth and development, with symptoms like short stature and scoliosis.
How is the CANT1 gene test performed?
The test uses next-generation sequencing (NGS) to analyze the CANT1 gene from a blood sample, providing accurate detection of mutations.
What is the cost of this genetic test in India?
The cost is INR 20,000, with free home sample collection available across many cities in India.
Is fasting required before the test?
No, fasting is not required. However, a clinical history and genetic counseling session are recommended pre-test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What are the benefits of this test?
Benefits include highly accurate results, non-invasive testing, early diagnosis, and enabling genetic counseling for family planning.
Who should consider this test?
Individuals with symptoms like short stature, joint stiffness, or family history of Desbuquois dysplasia should consider testing after consulting a doctor.
What sample type is needed?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
Is home collection available?
Yes, free home sample collection is offered for online bookings in numerous cities across India.
What does a positive result mean?
A positive result confirms mutations in the CANT1 gene, diagnosing Desbuquois dysplasia type 1, and guides further management.
Are there any risks to the test?
Risks are minimal, primarily related to blood draw, such as bruising. Genetic testing itself poses no significant risks.
How can I book this test?
You can book online through DNA Labs India's website or contact their call center for assistance.
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.

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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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