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FGFR2 Gene Beare-Stevenson cutis gyrata syndrome NGS Genetic Test

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FGFR2 Gene Beare-Stevenson cutis gyrata syndrome NGS Genetic Test

Also known as: Beare-Stevenson Syndrome, Cutis Gyrata Syndrome

FGFR2 Gene Beare-Stevenson cutis gyrata 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.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To detect mutations in the FGFR2 gene associated with Beare-Stevenson Cutis Gyrata Syndrome for diagnosis, genetic counseling, and management planning.

Test Code
4855
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

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Beare-Stevenson Cutis Gyrata Syndrome.

Step 2

Laboratory Analysis

Your sample is analyzed using Next-Generation Sequencing (NGS) in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment are required before sample collection.
2
During the Test:Sample collection via blood draw or FTA card; no special procedures during testing.
3
After the Test:Results are available in 3 to 4 weeks; follow-up with a healthcare provider for interpretation.

About This Test

Who Should Get This Test

To detect mutations in the FGFR2 gene associated with Beare-Stevenson Cutis Gyrata Syndrome for diagnosis, genetic counseling, and management planning.

How to Prepare

  • Collect blood sample in an EDTA tube
  • Alternatively, use an FTA card for one drop of blood
  • Ensure proper labeling and handling of the sample

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

Understanding Your Results

Results indicate the presence or absence of mutations in the FGFR2 gene. A positive result confirms Beare-Stevenson Cutis Gyrata Syndrome, while a negative result suggests no mutation detected, but clinical correlation is advised.
📊

Positive for FGFR2 mutation

Confirms diagnosis of Beare-Stevenson Cutis Gyrata Syndrome; genetic counseling recommended.

📊

Negative for FGFR2 mutation

No mutation detected; consider other diagnoses or repeat testing if symptoms persist.

⚠️ When to Consult a Doctor:

If symptoms such as thickened skin, abnormal bone growth, or family history of the syndrome are present, consult a geneticist or dermatologist for evaluation and testing.

Limitations

  • ⚠May not detect all types of FGFR2 gene mutations
  • ⚠Results require interpretation by a genetic counselor or specialist
  • ⚠Does not rule out other genetic disorders

Risks & Considerations

  • ●Minimal risks from blood collection, such as bruising or infection
  • ●Potential psychological impact of genetic results

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Improper sample collection or storage

Frequently Asked Questions

What is the FGFR2 Gene Beare-Stevenson Cutis Gyrata Syndrome NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the FGFR2 gene, which causes Beare-Stevenson Cutis Gyrata Syndrome.
What is the cost of this test?
The test costs INR 20000.0, with free home sample collection available across India.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What are the symptoms of Beare-Stevenson Cutis Gyrata Syndrome?
Symptoms include thickened skin on the scalp, deep grooves on the forehead, abnormal skull bone growth, widely spaced eyes, malformed ears, cleft lip/palate, and finger/toe abnormalities.
Who should consider this test?
Individuals with symptoms of the syndrome or a family history of Beare-Stevenson Cutis Gyrata Syndrome should consider testing.
Is fasting required before the test?
No, fasting is not required.
How is the test performed?
The test involves collecting a blood sample, which is analyzed using NGS technology to identify FGFR2 gene mutations.
What does a positive result mean?
A positive result confirms the presence of an FGFR2 mutation, indicating Beare-Stevenson Cutis Gyrata Syndrome.
Is genetic counseling recommended?
Yes, genetic counseling is recommended before and after testing to understand results and implications.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings in many cities across India.
What should I do after receiving the results?
Consult a healthcare provider or geneticist for interpretation and management planning based on the results.
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.

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✓ 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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