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FGFR2 Gene Antley-Bixler syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

FGFR2 Gene Antley-Bixler syndrome NGS Genetic Test

Short Name: FGFR2 Gene Test

Also known as: FGFR2 Mutation Analysis, Antley-Bixler Genetic Screening

FGFR2 Gene Antley-Bixler syndrome 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.

NGS Genetic TestPediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of the FGFR2 Gene Antley-Bixler Syndrome NGS Genetic Test is to detect mutations in the FGFR2 gene to confirm a diagnosis of Antley-Bixler syndrome, guide clinical management, and provide information for genetic counseling and family planning.

Test Code
5653
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 special preparation is required. Ensure proper identification and consent.

Method: Venipuncture for blood sample or saliva collection

Step 2

Laboratory Analysis

A small blood sample is drawn via venipuncture, or a saliva sample is collected using a provided kit.

Step 3

Report Delivery

Apply pressure to the puncture site if blood is drawn. Store samples as instructed.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:No specific preparation needed. Provide clinical history and undergo genetic counseling.
2
During the Test:Sample collection via blood draw or saliva. The process is quick and non-invasive.
3
After the Test:Sample sent to lab for analysis. Results available in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of the FGFR2 Gene Antley-Bixler Syndrome NGS Genetic Test is to detect mutations in the FGFR2 gene to confirm a diagnosis of Antley-Bixler syndrome, guide clinical management, and provide information for genetic counseling and family planning.

How to Prepare

  • Verify patient identity and consent
  • Use sterile equipment for blood collection
  • For saliva, avoid eating or drinking 30 minutes prior
  • Label samples correctly with patient details
  • Transport samples at ambient temperature as specified

Doctor's Notes

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

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture for blood sample or saliva collection

Sample Stability

Blood samples: Stable for 7 days at room temperature
Extracted DNA: Stable for longer periods if stored properly
FTA Card samples: Stable for months at room temperature
Sample Rejection Criteria:
  • Sample labeled incorrectly or missing information
  • Sample contaminated or hemolyzed
  • Insufficient sample volume
  • Sample not stored or transported as required

Understanding Your Results

Results from the FGFR2 Gene NGS Genetic Test indicate the presence or absence of pathogenic mutations in the FGFR2 gene. A positive result confirms a diagnosis of Antley-Bixler syndrome, while a negative result suggests no detectable mutations, though clinical correlation is essential.
📊

Positive for pathogenic variant

Confirms diagnosis of Antley-Bixler syndrome. Genetic counseling and multidisciplinary management recommended.

📊

Negative for pathogenic variant

No mutations detected in the FGFR2 gene. Clinical symptoms may be due to other genetic or non-genetic causes; further evaluation may be needed.

📊

Variant of uncertain significance (VUS)

A genetic variant was found but its clinical significance is unknown. Repeat testing or family studies may be advised.

⚠️ When to Consult a Doctor:

Consult a geneticist or pediatric specialist if symptoms of Antley-Bixler syndrome are present, or if family history suggests risk. After receiving test results, seek genetic counseling for interpretation and management planning.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or duplications
  • ⚠Requires genetic counseling for interpretation of results
  • ⚠Not intended for prenatal diagnosis unless specifically indicated
  • ⚠Results may have implications for family members, requiring careful disclosure

Risks & Considerations

  • ●Minimal physical risk from blood draw, such as bruising
  • ●Potential psychological impact from results
  • ●Privacy and confidentiality concerns regarding genetic data

Interfering Factors

  • ●Sample degradation or contamination
  • ●Technical errors during sequencing
  • ●Insufficient DNA quantity or quality

Frequently Asked Questions

What is Antley-Bixler syndrome?
Antley-Bixler syndrome is a rare genetic disorder characterized by abnormalities in bone and joint development, often caused by mutations in the FGFR2 gene.
What causes Antley-Bixler syndrome?
It is primarily caused by mutations in the FGFR2 gene, which plays a role in bone formation and maintenance.
What are the symptoms of Antley-Bixler syndrome?
Symptoms include craniofacial abnormalities, joint fusions, webbed or missing digits, and genital anomalies.
How is Antley-Bixler syndrome diagnosed?
Diagnosis is based on clinical symptoms and confirmed through genetic testing, such as the FGFR2 Gene NGS Genetic Test.
What is the FGFR2 Gene NGS Genetic Test?
It is a next-generation sequencing test that analyzes the FGFR2 gene to detect mutations associated with Antley-Bixler syndrome.
How is the test performed?
The test requires a small blood or saliva sample, which is analyzed using NGS technology in a laboratory.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
Is fasting required for the test?
No, fasting is not required for this genetic test.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India, with home sample collection available.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
What should I do if the test is positive?
If positive, consult a geneticist or specialist for management, genetic counseling, and family planning advice.
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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