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FGFR2 Gene Craniofacial-skeletal-dermatologic dysplasia NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

FGFR2 Gene Craniofacial-skeletal-dermatologic dysplasia NGS Genetic Test

Short Name: FGFR2 Craniofacial Dysplasia Test

Also known as: FGFR2 craniofacial-skeletal-dermatologic dysplasia, FGFR2 gene disorder

FGFR2 Gene Craniofacial-skeletal-dermatologic dysplasia 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 this test is to detect mutations in the FGFR2 gene to confirm a diagnosis of craniofacial-skeletal-dermatologic dysplasia, guide clinical management, and provide information for genetic counseling and family planning.

Test Code
4874
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

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of affected family members are required before sample collection.

Method: Venipuncture or FTA card

Step 2

Laboratory Analysis

Sample is collected via venipuncture for blood or using an FTA card for one drop of blood, following standard aseptic techniques.

Step 3

Report Delivery

Sample is labeled and transported to the laboratory under appropriate conditions for analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are essential before testing.
2
During the Test:Blood sample collection is a simple procedure with minimal discomfort.
3
After the Test:Results are delivered online, and follow-up genetic counseling is advised.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the FGFR2 gene to confirm a diagnosis of craniofacial-skeletal-dermatologic dysplasia, guide clinical management, and provide information for genetic counseling and family planning.

How to Prepare

  • Provide detailed clinical history and family pedigree
  • Ensure genetic counseling is completed prior to testing
  • Use sterile equipment for blood collection
  • Label samples correctly with patient details

Doctor's Notes

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

"This test is crucial for early diagnosis and management of FGFR2-related disorders, aiding in treatment planning and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card

Sample Stability

Blood samples: stable for 48 hours at room temperature
FTA card samples: stable for extended periods at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Incorrect labeling or missing patient information

Understanding Your Results

Results indicate the presence or absence of mutations in the FGFR2 gene. A positive result confirms the diagnosis, while a negative result may require further testing or clinical correlation.
Positive for pathogenic variant: Confirms FGFR2-related dysplasia; genetic counseling recommended
Negative for pathogenic variant: Disorder unlikely but clinical evaluation should continue
Variant of uncertain significance: Requires further investigation and family studies
⚠️ When to Consult a Doctor:

Consult a doctor if symptoms such as abnormal facial features, short stature, or skeletal abnormalities are present, or if there is a family history of genetic disorders.

Limitations

  • ⚠May not detect all possible mutations in the FGFR2 gene
  • ⚠Results require interpretation by a genetic specialist
  • ⚠Does not replace comprehensive clinical evaluation

Risks & Considerations

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

Interfering Factors

  • ●Poor sample quality or contamination
  • ●Insufficient DNA quantity
  • ●Hemolyzed or degraded blood samples

Frequently Asked Questions

What is FGFR2 Gene Craniofacial-skeletal-dermatologic dysplasia?
It is a rare genetic disorder caused by mutations in the FGFR2 gene, affecting bone and skin development, with symptoms like abnormal facial features and short stature.
How is the FGFR2 NGS Genetic Test performed?
The test uses next-generation sequencing to analyze the FGFR2 gene from a blood or DNA sample, detecting mutations accurately.
What is the cost of the FGFR2 Gene Test?
The test costs INR 20000, including home sample collection across India.
Is home sample collection available for this test?
Yes, free home sample collection is available for online bookings in numerous cities across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What are the common symptoms of this disorder?
Symptoms include abnormal head and facial features, short stature, spinal curvature abnormalities, hand and foot deformities, and skin and hair issues.
Is the FGFR2 NGS Genetic Test accurate?
Yes, the test is highly accurate due to advanced NGS technology, providing definitive diagnosis for FGFR2 mutations.
Do I need genetic counseling before the test?
Yes, genetic counseling is recommended to understand the test implications, draw a family pedigree, and discuss results.
Can this test be used for prenatal diagnosis?
Yes, it can be used for prenatal or preimplantation genetic diagnosis in families at risk, but consultation with a specialist is advised.
What if the test result is positive?
A positive result confirms the diagnosis, and genetic counseling will guide treatment options, management, and family planning.
Is the test covered by insurance?
Coverage depends on the insurance provider; it is not typically covered under government schemes like PMJAY or CGHS, but check with your insurer.
How do I book the FGFR2 Gene Test?
You can book online through DNA Labs India's website or contact their customer service for assistance with sample collection and payment.
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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