FGFR2 Gene Pfeiffer syndrome NGS Genetic Test
Short Name: FGFR2 Pfeiffer NGS
Also known as: FGFR2 Gene Sequencing, Pfeiffer Syndrome Genetic Test, FGFR2 NGS Panel
FGFR2 Gene Pfeiffer 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 Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.. 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
The primary purpose of this test is to identify disease-causing mutations in the FGFR2 gene that are responsible for Pfeiffer syndrome. This molecular confirmation helps in: establishing a definitive diagnosis, differentiating from other craniosynostosis syndromes, assessing recurrence risk for family planning, and enabling early intervention strategies. The test is also valuable for prenatal diagnosis in at-risk pregnancies and for carrier screening in families with a known FGFR2 mutation.
- Test Code
- 5901
- CPT Code
- 81408
- ICD Code
- Q87.0
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation required. A genetic counseling session is recommended before the test to discuss the implications and obtain informed consent.
Method: Venipuncture or FTA card spot
Laboratory Analysis
A blood sample is collected by venipuncture or a few drops of blood are placed on an FTA card. The procedure is quick and minimally invasive.
Report Delivery
No specific aftercare needed. The sample is sent to the laboratory for analysis.
Timeline: Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this test is to identify disease-causing mutations in the FGFR2 gene that are responsible for Pfeiffer syndrome. This molecular confirmation helps in: establishing a definitive diagnosis, differentiating from other craniosynostosis syndromes, assessing recurrence risk for family planning, and enabling early intervention strategies. The test is also valuable for prenatal diagnosis in at-risk pregnancies and for carrier screening in families with a known FGFR2 mutation.
How to Prepare
- For blood sample: Use EDTA vacutainer, fill to the indicated mark.
- For FTA card: Apply blood drops to the designated circles, air dry for 30 minutes.
- Label the sample with patient name, date of birth, and collection date.
- Transport at ambient temperature if delivered within 24 hours; otherwise, refrigerate.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic confirmation of Pfeiffer syndrome is crucial for timely surgical and developmental interventions. This NGS test provides a definitive molecular diagnosis, enabling personalized management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling
- Sample received after prolonged transit without proper storage
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of Pfeiffer syndrome. Genetic counseling and family screening recommended.
Negative for pathogenic variant
Reduces likelihood of Pfeiffer syndrome due to FGFR2 mutations. Other genetic causes may be considered.
Variant of uncertain significance (VUS)
Further testing of family members may help classify the variant.
Consult a geneticist or pediatrician if your child shows signs of craniosynostosis, unusual facial features, or limb abnormalities. Early diagnosis can significantly improve outcomes.
Limitations
- ⚠This test detects mutations in the FGFR2 gene only; mutations in other genes (e.g., FGFR1, FGFR3) may cause similar phenotypes.
- ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be required.
- ⚠Variant of uncertain significance (VUS) may require further family studies.
- ⚠Test does not assess non-coding regulatory regions.
Risks & Considerations
- ●Minimal risk of bruising at the blood draw site
- ●No significant health risks associated with the test
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Incomplete clinical information
- ●Presence of maternal cell contamination in prenatal samples
- ●Rare variants in non-coding regions not covered by NGS
Compare With Similar Tests
| Test | FGFR2 Gene Pfeiffer syndrome NGS Genetic Test | FGFR1 Gene Sequencing | FGFR3 Gene Sequencing | Craniosynostosis Panel (NGS) |
|---|---|---|---|---|
| Comparison | FGFR2 Gene Pfeiffer syndrome NGS Genetic Test |
Frequently Asked Questions
What is the cost of the FGFR2 Gene Pfeiffer Syndrome NGS Genetic Test?
What sample is required for this test?
How long does it take to get the results?
Is fasting required before the test?
Can this test be done on a newborn?
What does a positive result mean?
Are there any risks associated with the test?
Is genetic counseling included?
Can this test detect all types of Pfeiffer syndrome?
Is home sample collection available?
What is the turnaround time for reports?
How should the sample be stored before shipping?
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₹20,000Reference Laboratory Services
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