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FGFR2 Gene Crouzon syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

FGFR2 Gene Crouzon syndrome NGS Genetic Test

Also known as: Crouzon's disease, Craniofacial dysostosis

FGFR2 Gene Crouzon syndrome 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

🩺 Medically Reviewed By

Overview

To diagnose Crouzon syndrome by detecting pathogenic mutations in the FGFR2 gene using NGS technology, enabling accurate clinical management and genetic counseling.

Test Code
2714
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

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Crouzon syndrome.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or using FTA card for one drop of blood.

Step 3

Report Delivery

Sample sent to laboratory for NGS analysis; results available in 3-4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review.
2
During the Test:Blood sample collection via venipuncture.
3
After the Test:Results delivered in 3-4 weeks with interpretation.

About This Test

Who Should Get This Test

To diagnose Crouzon syndrome by detecting pathogenic mutations in the FGFR2 gene using NGS technology, enabling accurate clinical management and genetic counseling.

How to Prepare

  • Fast not required
  • Provide detailed clinical history
  • Ensure proper sample labeling

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic testing is crucial for early diagnosis and management of Crouzon syndrome, enabling timely intervention and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Sample Stability

Blood: 7 days at room temperature
Extracted DNA: 6 months at -20°C
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the FGFR2 gene associated with Crouzon syndrome.
📊

Positive for pathogenic mutation

Confirms diagnosis of Crouzon syndrome; genetic counseling and clinical management recommended.

📊

Negative for pathogenic mutation

No mutation detected; clinical correlation and further testing may be considered if symptoms persist.

⚠️ When to Consult a Doctor:

Consult a geneticist or pediatric specialist if symptoms of Crouzon syndrome are present or if test results are positive.

Limitations

  • May not detect all genetic variants; clinical correlation required
  • Results should be interpreted by a qualified geneticist

Risks & Considerations

  • Minor bruising at blood draw site
  • Rare infection risk

Interfering Factors

  • Sample contamination
  • Degraded DNA quality

Frequently Asked Questions

What is Crouzon syndrome?
Crouzon syndrome is a genetic disorder that affects skull development, causing craniosynostosis and distinctive facial features due to FGFR2 gene mutations.
What causes Crouzon syndrome?
It is primarily caused by mutations in the FGFR2 gene, which is involved in bone and tissue development.
How is Crouzon syndrome diagnosed?
Diagnosis involves physical examination, medical history, and genetic testing such as the FGFR2 gene NGS test.
What does the FGFR2 gene NGS test involve?
It uses Next-Generation Sequencing to detect mutations in the FGFR2 gene from a blood or DNA sample.
How much does the FGFR2 gene test cost?
The cost is INR 20000 at DNA Labs India, including sample collection, analysis, and interpretation.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What are the symptoms of Crouzon syndrome?
Symptoms include abnormal head shape, protruding eyes, underdeveloped upper jaw, cleft palate, hearing loss, and breathing difficulties.
Can Crouzon syndrome be treated?
While there is no cure, management includes surgical interventions, hearing aids, and supportive therapies to address symptoms.
Is genetic testing necessary for diagnosis?
Yes, genetic testing like the FGFR2 NGS test provides a definitive diagnosis and helps in family planning.
What should I do if the test is positive?
Consult a geneticist or specialist for counseling, management options, and to discuss implications for family members.
Are there any risks associated with the test?
The test involves a standard blood draw with minimal risks such as bruising or infection, which are rare.
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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