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FGFR2 Gene Bent bone dysplasia syndrome NGS Genetic Test

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FGFR2 Gene Bent bone dysplasia syndrome NGS Genetic Test

Short Name: FGFR2 Bent Bone Dysplasia NGS Test

Also known as: Bent Bone Dysplasia Syndrome, Beare-Stevenson Syndrome

FGFR2 Gene Bent bone dysplasia 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 Test🏠 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 the FGFR2 Gene Bent Bone Dysplasia Syndrome NGS Genetic Test is to accurately diagnose mutations in the FGFR2 gene that cause Bent Bone Dysplasia Syndrome. This enables early identification of the disorder, facilitates appropriate medical management, supports genetic counseling for families, and helps in planning treatment strategies to address bone abnormalities and associated symptoms.

Test Code
4857
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 is required. Provide detailed clinical history and a pedigree chart of family members affected with similar symptoms during genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture by a trained phlebotomist. The process is quick and minimally invasive.

Step 3

Report Delivery

Apply gentle pressure to the puncture site with a cotton ball to prevent bruising. Resume normal activities immediately.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:No specific preparation required. Attend a genetic counseling session to discuss family history and test implications.
2
During the Test:A blood sample is drawn from a vein in the arm. The procedure takes about 10-15 minutes.
3
After the Test:Results are available in 3-4 weeks. A geneticist will interpret the findings and provide a detailed report.

About This Test

Who Should Get This Test

The purpose of the FGFR2 Gene Bent Bone Dysplasia Syndrome NGS Genetic Test is to accurately diagnose mutations in the FGFR2 gene that cause Bent Bone Dysplasia Syndrome. This enables early identification of the disorder, facilitates appropriate medical management, supports genetic counseling for families, and helps in planning treatment strategies to address bone abnormalities and associated symptoms.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Label samples accurately with patient details
  • Store samples at 2-8°C until processing

Doctor's Notes

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

"Genetic testing for FGFR2 mutations is essential for early diagnosis and management of Bent Bone Dysplasia Syndrome, helping in planning appropriate medical care and genetic counseling for affected families."

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 blood
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood samples are stable for 24 hours at 2-8°C
Extracted DNA can be stored at -20°C for longer periods
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrect labeling or missing information

Understanding Your Results

Results are interpreted by a qualified geneticist. A positive result confirms the presence of a pathogenic variant in the FGFR2 gene, diagnosing Bent Bone Dysplasia Syndrome. Negative results indicate no detectable mutations, but clinical correlation is advised.
Negative result: No pathogenic variants detected in the FGFR2 gene
Positive result: Pathogenic variant detected, confirming diagnosis of Bent Bone Dysplasia Syndrome
Variant of uncertain significance (VUS): Requires further testing, family studies, or clinical evaluation
⚠️ When to Consult a Doctor:

Consult a doctor if symptoms such as abnormal bone growth, skull deformities, or short stature are present, or if there is a family history of Bent Bone Dysplasia Syndrome. Genetic counseling is recommended before and after testing.

Limitations

  • ⚠May not detect all types of genetic mutations (e.g., large deletions)
  • ⚠Requires genetic counseling for accurate interpretation
  • ⚠Results should be correlated with clinical findings and family history

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Rare risk of infection or fainting

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample handling or storage

Frequently Asked Questions

What is FGFR2 Gene Bent Bone Dysplasia Syndrome?
It is a rare genetic disorder caused by mutations in the FGFR2 gene, leading to abnormal bone development and symptoms like skull deformities, short stature, and joint issues.
What are the common symptoms of this syndrome?
Symptoms include abnormal skull shape, small head size, abnormal facial features, abnormal bone growth, short stature, joint abnormalities, and spinal curvature.
How is Bent Bone Dysplasia Syndrome diagnosed?
Diagnosis is confirmed through genetic testing, specifically the NGS Genetic Test, which analyzes DNA for mutations in the FGFR2 gene.
What does the NGS Genetic Test involve?
The test uses Next Generation Sequencing technology to detect mutations in the FGFR2 gene from a blood sample, providing accurate and reliable results.
What is the cost of the FGFR2 Gene NGS Test in India?
The cost is INR 20000, which includes DNA analysis and interpretation by a geneticist. Free home sample collection is available.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across India for online bookings, making it convenient for patients.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result indicates a pathogenic variant in the FGFR2 gene, confirming a diagnosis of Bent Bone Dysplasia Syndrome.
Is genetic counseling required before or after the test?
Yes, genetic counseling is recommended to understand the implications, interpret results, and discuss management options.
Can this test be used for prenatal diagnosis?
Prenatal testing may be possible through methods like amniocentesis, but consultation with a genetic specialist is necessary.
Are there any risks associated with the genetic test?
The test involves a standard blood draw, with minimal risks such as bruising. No significant health risks are associated with the genetic analysis itself.
How accurate is the NGS Genetic Test for FGFR2 mutations?
NGS technology is highly accurate for detecting mutations, but results should be correlated with clinical findings and family history for comprehensive diagnosis.
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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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.

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