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DNA Labs India

FGFR2 Gene Apert syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

FGFR2 Gene Apert syndrome NGS Genetic Test

Short Name: Apert Syndrome NGS Genetic Test

Also known as: FGFR2 Mutation Test, Apert Syndrome Genetic Test, Acrocephalosyndactyly Genetic Test

FGFR2 Gene Apert syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) 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 SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify pathogenic mutations in the FGFR2 gene to confirm a diagnosis of Apert Syndrome, aid in clinical management, and facilitate genetic counseling for families.

Test Code
5652
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 (Next-Generation Sequencing)
Step 1

Sample Collection

No special preparation is required. Ensure proper identification and clinical history is provided.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

A blood sample will be collected by a trained phlebotomist using standard venipuncture or FTA card method.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Keep the area clean.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling as recommended.
2
During the Test:Sample collection procedure as described.
3
After the Test:Await report delivery and follow up with healthcare provider for interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic mutations in the FGFR2 gene to confirm a diagnosis of Apert Syndrome, aid in clinical management, and facilitate genetic counseling for families.

How to Prepare

  • Verify patient identity
  • Use sterile collection equipment
  • Label samples correctly
  • Transport samples at ambient temperature

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Early genetic diagnosis of Apert Syndrome through FGFR2 gene testing is crucial for timely intervention, management, 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 or FTA Card

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improper labeling or identification

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the FGFR2 gene. A positive result confirms a diagnosis of Apert Syndrome, while a negative result may require further clinical evaluation.
📊

Positive

Pathogenic mutation detected in FGFR2 gene, consistent with Apert Syndrome diagnosis.

📊

Negative

No pathogenic variants detected; clinical correlation recommended.

📊

Variant of Uncertain Significance

Genetic variant found but significance unknown; further testing or family studies may be needed.

⚠️ When to Consult a Doctor:

Consult a geneticist or pediatric specialist if symptoms of Apert Syndrome are present, for family planning, or if test results are positive or uncertain.

Limitations

  • ⚠May not detect all types of FGFR2 mutations
  • ⚠Requires correlation with clinical findings
  • ⚠Genetic counseling is recommended for interpretation

Risks & Considerations

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

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Hemolyzed blood sample

Frequently Asked Questions

What is Apert Syndrome?
Apert Syndrome is a rare genetic disorder affecting bone growth, caused by mutations in the FGFR2 gene, leading to craniosynostosis and syndactyly.
What does the FGFR2 Gene Apert Syndrome NGS Genetic Test involve?
It involves Next-Generation Sequencing to detect mutations in the FGFR2 gene from a blood or DNA sample.
How is the test performed?
A small blood sample is collected and analyzed using advanced sequencing technology to identify genetic mutations.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India, with home collection available.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks.
Is the test covered by insurance?
Coverage varies; check with your insurance provider for details.
What are the symptoms of Apert Syndrome?
Common symptoms include fused skull bones, bulging eyes, beaked nose, webbed fingers or toes, and developmental delays.
Who should consider this test?
Individuals with clinical features of Apert Syndrome, family history, or prenatal suspicion should consider testing.
What if the test result is positive?
A positive result confirms Apert Syndrome; consult a geneticist for management and counseling.
Are there any risks associated with the test?
Risks are minimal, such as bruising from blood draw, but genetic results may have emotional implications.
Can this test be used for prenatal diagnosis?
Yes, it can be used prenatally if there is suspicion, but consult a healthcare provider for appropriate testing options.
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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