FGFR1 Gene Pfeiffer syndrome NGS Genetic Test
Short Name: FGFR1 NGS
Also known as: FGFR1 Gene Mutation Test, Pfeiffer Syndrome Genetic Test, FGFR1 Sequencing
FGFR1 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify pathogenic variants in the FGFR1 gene that cause Pfeiffer syndrome. It helps confirm a clinical diagnosis, differentiate from other craniosynostosis syndromes, provide genetic counseling, and guide reproductive decisions.
- Test Code
- 5900
- 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 is required. However, a genetic counseling session is recommended before the test to discuss implications.
Method: Venipuncture or FTA card spot
Laboratory Analysis
A blood sample will be drawn by a trained phlebotomist. For FTA card, a few drops of blood are placed on the card.
Report Delivery
No specific aftercare is needed. You can resume normal activities immediately.
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 purpose of this test is to identify pathogenic variants in the FGFR1 gene that cause Pfeiffer syndrome. It helps confirm a clinical diagnosis, differentiate from other craniosynostosis syndromes, provide genetic counseling, and guide reproductive decisions.
How to Prepare
- Ensure the sample is collected in the provided EDTA tube or FTA card.
- Label the sample with patient's name and date of birth.
- For home collection, keep the sample at room temperature until pickup.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for FGFR1 mutations is crucial for confirming Pfeiffer syndrome and guiding management. Early diagnosis can significantly improve outcomes."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling or missing requisition form
Understanding Your Results
Positive (Pathogenic variant)
Confirms diagnosis of Pfeiffer syndrome. Genetic counseling is recommended for family members.
Action: Discuss management options with a geneticist and multidisciplinary team.
Negative (No variant)
No mutation detected in FGFR1. Consider testing other genes (e.g., FGFR2, FGFR3) if clinical suspicion remains.
Action: Further evaluation by a clinical geneticist.
Variant of Uncertain Significance (VUS)
A genetic change was found, but its clinical significance is unknown.
Action: Additional family studies may help clarify. Genetic counseling is advised.
Consult a clinical geneticist or pediatrician if you or your child have symptoms suggestive of Pfeiffer syndrome, such as abnormal head shape, bulging eyes, or fused fingers/toes. Early referral is crucial for timely intervention.
Limitations
- ⚠This test detects mutations in the FGFR1 gene only; other genes 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.
Risks & Considerations
- ●Minor bruising at the blood draw site
- ●Rare risk of infection (minimized with sterile techniques)
- ●Psychological impact of genetic results
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Incomplete clinical information
- ●Presence of maternal cell contamination in prenatal samples
Compare With Similar Tests
| Test | FGFR1 Gene Pfeiffer syndrome NGS Genetic Test | FGFR2 Gene Sequencing | Craniosynostosis Panel |
|---|---|---|---|
| Comparison | FGFR1 Gene Pfeiffer syndrome NGS Genetic Test |
Frequently Asked Questions
What is Pfeiffer syndrome?
How is this test performed?
What is the cost of the test?
How long does it take to get results?
Is fasting required before the test?
What sample is needed?
Can this test be done during pregnancy?
What does a positive result mean?
What if the result is negative?
Is genetic counseling included?
In which cities is home sample collection available?
Is this test covered by insurance?
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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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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
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