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DNA Labs India

FGFR2 Gene Craniosynostosis, nonspecific NGS Genetic Test

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FGFR2 Gene Craniosynostosis, nonspecific NGS Genetic Test

Short Name: FGFR2 Craniosynostosis NGS Test

Also known as: FGFR2-related craniosynostosis, FGFR2 gene mutation test

FGFR2 Gene Craniosynostosis, nonspecific NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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 identify mutations in the FGFR2 gene associated with craniosynostosis for accurate diagnosis, management, and genetic counseling.

Test Code
2707
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
NGS Technology
Step 1

Sample Collection

No specific preparation required. Provide clinical history and family pedigree chart.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture by a trained phlebotomist.

Step 3

Report Delivery

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

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide detailed clinical history and undergo genetic counseling session.
2
During the Test:Blood sample collection procedure as per standard protocols.
3
After the Test:Results available in 3-4 weeks; follow-up with genetic counselor recommended.

About This Test

Who Should Get This Test

To identify mutations in the FGFR2 gene associated with craniosynostosis for accurate diagnosis, management, and genetic counseling.

How to Prepare

  • Ensure proper identification of patient
  • Use sterile equipment
  • Label samples correctly
  • Transport at ambient temperature

Doctor's Notes

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

"Early genetic testing for FGFR2 mutations is essential for timely intervention and management of craniosynostosis in children."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL for blood
ContainerEDTA tube for blood
Collection MethodVenipuncture

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
  • Improper labeling or storage

Understanding Your Results

Results indicate the presence or absence of mutations in the FGFR2 gene. Genetic counseling is essential for understanding implications.
📊

No pathogenic variants

Normal result, but clinical correlation recommended

📊

Pathogenic variants detected

Confirms FGFR2-related craniosynostosis; further management needed

📊

Variant of uncertain significance (VUS)

Requires additional testing and clinical evaluation

⚠️ When to Consult a Doctor:

If symptoms of craniosynostosis are present, such as misshapen skull or developmental delays, or if there is a family history of the condition.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●Rare allergic reactions to antiseptic

Interfering Factors

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

Frequently Asked Questions

What is FGFR2 Gene Craniosynostosis?
It is a genetic disorder caused by mutations in the FGFR2 gene, leading to premature closure of skull sutures and cranial deformities.
What are the common symptoms?
Symptoms include misshapen skull, abnormal facial features, developmental delays, speech problems, learning difficulties, and seizures.
How is FGFR2 Gene Craniosynostosis diagnosed?
Diagnosis involves physical examination, imaging tests, and genetic testing such as NGS to identify FGFR2 mutations.
What is the cost of the NGS Genetic Test at DNA Labs India?
The cost is INR 20,000, which includes sample collection and analysis.
Is home sample collection available?
Yes, free home sample collection is available across India for online bookings.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
Is fasting required before the test?
No, fasting is not required for this genetic test.
What does a positive result mean?
A positive result indicates pathogenic mutations in the FGFR2 gene, confirming the diagnosis and guiding management.
Can this test be used for prenatal diagnosis?
It is primarily for postnatal diagnosis; consult a genetic counselor for prenatal options.
Is genetic counseling included?
Yes, a genetic counseling session is part of the pre-test information to draw a family pedigree chart.
What are the risks of the test?
Risks are minimal, mainly related to blood draw, such as bruising or infection.
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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