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SOX9 Gene Campomelic dysplasia NGS Genetic Test

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SOX9 Gene Campomelic dysplasia NGS Genetic Test

Short Name: SOX9 Gene Campomelic Dysplasia Test

Also known as: SOX9 Mutation Test, Campomelic Dysplasia Genetic Test, SOX9 Gene Sequencing

SOX9 Gene Campomelic dysplasia 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

To detect mutations in the SOX9 gene associated with Campomelic Dysplasia for accurate diagnosis, management, and genetic counseling.

Test Code
5686
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

Provide clinical history and undergo genetic counseling to draw a pedigree chart.

Method: Venipuncture or blood drop on FTA card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or blood drop on FTA card by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store sample as instructed.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:Sample collection is a standard blood draw procedure.
3
After the Test:Results are delivered online; follow-up with a healthcare provider is advised.

About This Test

Who Should Get This Test

To detect mutations in the SOX9 gene associated with Campomelic Dysplasia for accurate diagnosis, management, and genetic counseling.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile collection equipment
  • Label samples correctly with patient details
  • Transport samples at ambient room temperature

Doctor's Notes

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

"Early genetic testing for Campomelic Dysplasia can guide treatment, management, and family planning decisions."

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 blood drop on FTA card

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results indicate the presence or absence of mutations in the SOX9 gene. A positive result confirms a genetic basis for Campomelic Dysplasia, while a negative result may require further testing.
Positive: Pathogenic mutation detected in SOX9 gene, confirming diagnosis.
Negative: No pathogenic variants detected; clinical correlation recommended.
Variant of Uncertain Significance (VUS): Further testing and family studies may be needed.
⚠️ When to Consult a Doctor:

Consult a geneticist or pediatric specialist if symptoms of Campomelic Dysplasia are present, or for interpretation of test results and family planning.

Limitations

  • ⚠May not detect all types of SOX9 mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Rare risk of infection
  • ●Emotional impact of results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood samples

Frequently Asked Questions

What is Campomelic Dysplasia?
Campomelic Dysplasia is a rare genetic disorder affecting bone and cartilage development, characterized by bowed legs, small chest, cleft palate, underdeveloped lungs, and abnormal genitalia.
What causes Campomelic Dysplasia?
It is primarily caused by mutations in the SOX9 gene, which plays a crucial role in skeletal and sexual development.
What are the symptoms of Campomelic Dysplasia?
Symptoms include bowed legs, small chest, cleft palate, underdeveloped lungs, and abnormal genitalia.
How is Campomelic Dysplasia diagnosed?
Diagnosis is confirmed through genetic testing, such as the SOX9 Gene NGS Genetic Test, along with clinical evaluation.
What is the SOX9 gene test?
It is a next-generation sequencing (NGS) test that examines the SOX9 gene to detect mutations associated with Campomelic Dysplasia.
How is the test performed?
The test uses NGS technology on a blood sample or extracted DNA to sequence the SOX9 gene and identify mutations.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card is required.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the SOX9 gene, confirming a genetic basis for Campomelic Dysplasia.
What does a negative result mean?
A negative result means no pathogenic variants were detected in the SOX9 gene; clinical correlation and further testing may be needed.
Is genetic counseling recommended?
Yes, genetic counseling is recommended before and after testing to understand results, implications, and family planning.
How can I book the test?
You can book the test online through DNA Labs India's website or contact them via phone or WhatsApp for home sample collection.
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

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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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