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DNA Labs India

FGFR1 Gene Craniosynostosis, FGFR1 related NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

FGFR1 Gene Craniosynostosis, FGFR1 related NGS Genetic Test

Short Name: FGFR1 Craniosynostosis NGS Test

Also known as: FGFR1 Gene Test for Craniosynostosis, FGFR1 Mutation Analysis

FGFR1 Gene Craniosynostosis, FGFR1 related 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.

NGS Genetic TestPediatric🏠 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

To diagnose FGFR1 gene mutations causing craniosynostosis, enabling early intervention and family planning counseling.

Test Code
2704
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

Genetic counseling session recommended. Provide clinical history and family pedigree chart.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture by trained phlebotomist.

Step 3

Report Delivery

Sample labeled and transported to lab under ambient conditions. Report available in 3-4 weeks.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical evaluation recommended.
2
During the Test:Blood sample collection and DNA extraction for NGS analysis.
3
After the Test:Report generation and genetic counseling for result interpretation.

About This Test

Who Should Get This Test

To diagnose FGFR1 gene mutations causing craniosynostosis, enabling early intervention and family planning counseling.

How to Prepare

  • Ensure proper identification
  • Use sterile equipment
  • Store sample at room temperature

Doctor's Notes

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

"Early genetic diagnosis of FGFR1-related craniosynostosis is essential for timely surgical intervention and management of associated complications."

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 or FTA card
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Improper labeling

Understanding Your Results

Results indicate presence or absence of pathogenic variants in the FGFR1 gene associated with craniosynostosis.
Normal: No variants detected, low risk
Abnormal: Pathogenic variant detected, confirms diagnosis
Variant of uncertain significance: Requires further testing
⚠️ When to Consult a Doctor:

Consult a geneticist or pediatrician immediately if pathogenic variant is detected for management planning.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

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

Interfering Factors

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

Compare With Similar Tests

TestFGFR1 Gene Craniosynostosis, FGFR1 related NGS Genetic TestFGFR2 Gene Craniosynostosis TestCraniosynostosis Panel
ComparisonFGFR1 Gene Craniosynostosis, FGFR1 related NGS Genetic Test

Frequently Asked Questions

What is FGFR1 Gene Craniosynostosis?
It is a genetic condition caused by mutations in the FGFR1 gene, leading to premature fusion of skull bones and abnormal head shape.
How is the NGS Genetic Test performed?
The test uses Next-Generation Sequencing to analyze the FGFR1 gene from a blood or DNA sample for mutations.
What is the cost of the test?
The test costs INR 20000, with free home sample collection available across India.
Who should get this test?
Individuals with symptoms like abnormal head shape, developmental delays, or family history of craniosynostosis.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home collection in numerous cities across India.
What sample is required?
Blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
What does a positive result mean?
A positive result indicates a pathogenic variant in the FGFR1 gene, confirming the diagnosis of craniosynostosis.
Can this test be used for prenatal diagnosis?
Yes, it can be part of prenatal testing if there is suspicion or family history.
Is genetic counseling included?
Yes, genetic counseling is recommended before and after testing to discuss implications.
Are there any risks associated with the test?
Risks are minimal, such as bruising from blood draw, but emotional impact of results should be considered.
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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