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FGFR2 Gene Saethre-Chotzen syndrome NGS Genetic Test

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FGFR2 Gene Saethre-Chotzen syndrome NGS Genetic Test

Short Name: FGFR2 Gene Saethre-Chotzen Syndrome Test

FGFR2 Gene Saethre-Chotzen 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.

Next-Generation Sequencing (NGS) Genetic TestAll Ages🏠 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 FGFR2 gene to diagnose Saethre-Chotzen syndrome, enabling early management and genetic counseling.

Test Code
2801
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. Provide clinical history and undergo genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to discuss the test and implications.
2
During the Test:The test involves sequencing the FGFR2 gene using NGS technology.
3
After the Test:Results will be available in 3-4 weeks. Follow up with your doctor for interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the FGFR2 gene to diagnose Saethre-Chotzen syndrome, enabling early management and genetic counseling.

How to Prepare

  • Ensure patient is hydrated
  • Use sterile equipment
  • Label samples correctly

Doctor's Notes

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

"Genetic testing for Saethre-Chotzen syndrome enables early diagnosis and personalized management, improving patient outcomes."

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 samples are stable for 48 hours at room temperature
Extracted DNA can be stored at -20°C for long-term
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of mutations in the FGFR2 gene associated with Saethre-Chotzen syndrome.
📊

Negative

No pathogenic variant detected. Clinical correlation recommended.

📊

Positive

Pathogenic variant detected. Confirms diagnosis of Saethre-Chotzen syndrome. Genetic counseling advised.

⚠️ When to Consult a Doctor:

If you have symptoms of Saethre-Chotzen syndrome or a family history, consult a geneticist or pediatrician for evaluation.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Results require interpretation by a geneticist
  • ⚠Does not rule out other genetic conditions

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Technical errors in sequencing

Frequently Asked Questions

What is Saethre-Chotzen syndrome?
Saethre-Chotzen syndrome is a genetic disorder that affects the development of bones in the skull and face, leading to craniosynostosis and other abnormalities.
What causes Saethre-Chotzen syndrome?
It is primarily caused by mutations in the FGFR2 gene, which is involved in bone growth and development.
What are the common symptoms?
Symptoms include abnormal skull shape, facial abnormalities, hand and foot deformities, vision problems, and hearing issues.
How is the syndrome diagnosed?
Diagnosis is based on physical examination and genetic testing, such as NGS for the FGFR2 gene.
What is the FGFR2 gene?
The FGFR2 gene provides instructions for making a protein that regulates bone and tissue development.
What is NGS genetic testing?
Next-generation sequencing (NGS) is an advanced method that rapidly sequences large amounts of DNA for accurate mutation detection.
What is the cost of this test?
The FGFR2 Gene NGS Genetic Test costs INR 20,000 at DNA Labs India.
How long does it take to receive results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
What preparation is needed before the test?
No fasting is required. Provide your clinical history and undergo genetic counseling.
What do positive and negative results mean?
A positive result indicates a mutation in the FGFR2 gene, confirming the syndrome. A negative result means no mutation was detected, but clinical correlation is advised.
How is Saethre-Chotzen syndrome managed?
Management may include surgery for craniosynostosis, physical therapy, and supportive care. Early diagnosis improves outcomes.
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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