FGFR2 Gene Scaphocephaly, maxillary retrusion, and mental retardation NGS Genetic Test
Short Name: FGFR2 NGS Genetic Test
Also known as: FGFR2 Gene Mutation Test, Scaphocephaly Genetic Test, FGFR2-Related Craniosynostosis Test
FGFR2 Gene Scaphocephaly, maxillary retrusion, and mental retardation 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To identify mutations in the FGFR2 gene associated with Scaphocephaly, Maxillary Retrusion, and Mental Retardation for accurate diagnosis, prognosis assessment, and guiding clinical management and genetic counseling.
- Test Code
- 2804
- 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
Sample Collection
A clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with FGFR2 gene-related conditions are required. No fasting is needed.
Method: Venipuncture
Laboratory Analysis
Standard blood collection via venipuncture or use of FTA card for one drop of blood. Ensure proper labeling and handling to avoid contamination.
Report Delivery
Sample is transported to the lab under ambient room temperature for DNA extraction and NGS analysis. Results are reviewed and reported within 3-4 weeks.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify mutations in the FGFR2 gene associated with Scaphocephaly, Maxillary Retrusion, and Mental Retardation for accurate diagnosis, prognosis assessment, and guiding clinical management and genetic counseling.
How to Prepare
- Ensure patient identification and sample labeling are accurate
- Use sterile equipment for blood collection
- Avoid hemolysis by gentle mixing of blood samples
- Store samples at room temperature if using FTA card
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for FGFR2 mutations is crucial for accurate diagnosis, management planning, and genetic counseling in families with suspected craniosynostosis syndromes."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Hemolyzed or clotted blood samples
- Improperly labeled or contaminated samples
- Samples without accompanying clinical history
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of FGFR2-related disorder; genetic counseling and management recommended.
Variant of uncertain significance (VUS)
Further testing or family studies may be needed; clinical correlation advised.
No pathogenic variant detected
Reduces likelihood of FGFR2 mutation; consider other genetic or environmental causes.
Consult a doctor if symptoms such as abnormal head shape, facial deformities, intellectual disabilities, or developmental delays are present, or if there is a family history of similar conditions.
Limitations
- ⚠May not detect all types of genetic variants, such as large deletions or duplications
- ⚠Results require interpretation by a genetic counselor or specialist
- ⚠Does not rule out other genetic conditions with similar symptoms
- ⚠Turnaround time is 3-4 weeks, which may delay urgent decisions
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising, pain, or infection
- ●Psychological impact of genetic results may require counseling
- ●No significant physical risks from the test itself
Interfering Factors
- ●Poor sample quality or insufficient DNA
- ●Contamination during sample collection or processing
- ●Hemolyzed blood samples
- ●Recent blood transfusions may affect results
Compare With Similar Tests
| Test | FGFR2 Gene Scaphocephaly, maxillary retrusion, and mental retardation NGS Genetic Test | FGFR3 Gene Test | Craniosynostosis Gene Panel | Intellectual Disability Genetic Panel |
|---|---|---|---|---|
| Comparison | FGFR2 Gene Scaphocephaly, maxillary retrusion, and mental retardation NGS Genetic Test | Focuses on FGFR3 gene mutations associated with skeletal dysplasias, not craniosynostosis. | Tests multiple genes involved in craniosynostosis, including FGFR2, FGFR3, and TWIST1. | Broad panel for genes linked to intellectual disabilities, which may include FGFR2. |
Frequently Asked Questions
What is the FGFR2 Gene Scaphocephaly, Maxillary Retrusion, and Mental Retardation NGS Genetic Test?
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Is fasting required before the test?
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₹20,000Reference 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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