FGFR3 Gene Crouzon syndrome with acanthosis nigricans NGS Genetic Test
Short Name: FGFR3 Crouzon AN NGS Test
Also known as: Crouzonodermoskeletal syndrome, FGFR3-related craniosynostosis with acanthosis nigricans
FGFR3 Gene Crouzon syndrome with acanthosis nigricans 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To identify pathogenic mutations in the FGFR3 gene associated with Crouzon Syndrome with Acanthosis Nigricans, enabling accurate diagnosis, genetic counseling, and informed treatment decisions.
- Test Code
- 4875
- 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)
Sample Collection
No special preparation required. Provide detailed clinical history and family pedigree during genetic counseling.
Method: Venipuncture
Laboratory Analysis
A blood sample will be collected via venipuncture by a trained phlebotomist.
Report Delivery
Apply gentle pressure to the puncture site with a cotton ball to stop bleeding. Avoid strenuous activity for a few hours.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify pathogenic mutations in the FGFR3 gene associated with Crouzon Syndrome with Acanthosis Nigricans, enabling accurate diagnosis, genetic counseling, and informed treatment decisions.
How to Prepare
- Ensure proper patient identification
- Use sterile collection equipment
- Label samples accurately with patient details
- Store samples at recommended temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is essential for early diagnosis and management of Crouzon Syndrome with Acanthosis Nigricans, particularly in families with a history of craniosynostosis or skin disorders."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Improper labeling or documentation
- Contaminated samples
Understanding Your Results
Positive
Pathogenic mutation detected in FGFR3 gene, consistent with diagnosis of Crouzon Syndrome with Acanthosis Nigricans.
Negative
No pathogenic variants detected in FGFR3 gene. Clinical correlation is advised, and other genetic causes may be considered.
Variant of Uncertain Significance (VUS)
A genetic variant was found but its clinical significance is unclear. Genetic counseling and follow-up testing may be recommended.
Consult a geneticist, dermatologist, or craniofacial specialist if symptoms persist, if there is a family history of the condition, or after receiving test results for management and counseling.
Limitations
- ⚠May not detect all genetic variants or mosaicism
- ⚠Requires clinical correlation and genetic counseling for interpretation
- ⚠Limited to FGFR3 gene analysis only
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection at the puncture site
- ●No significant risks associated with NGS analysis
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Improper sample storage
Compare With Similar Tests
| Test | FGFR3 Gene Crouzon syndrome with acanthosis nigricans NGS Genetic Test | FGFR2 Gene Craniosynostosis Test | Comprehensive Craniofacial Gene Panel |
|---|---|---|---|
| Comparison | FGFR3 Gene Crouzon syndrome with acanthosis nigricans NGS Genetic Test | Targets FGFR2 gene for other craniosynostosis syndromes like Apert syndrome. | Analyzes multiple genes associated with craniofacial disorders, broader than single-gene testing. |
Frequently Asked Questions
What is Crouzon Syndrome with Acanthosis Nigricans?
What are the common symptoms of this condition?
How is the FGFR3 Gene Test performed?
What is the cost of the FGFR3 Gene Crouzon Syndrome with Acanthosis Nigricans NGS Genetic Test?
Is home sample collection available for this test?
How long does it take to get the test results?
What does a positive test result mean?
Can this test be used for prenatal diagnosis?
Are there any risks associated with the test?
How accurate is the NGS Genetic Test?
What should I do if I have a family history of this condition?
Is genetic counseling provided with the test?
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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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