FGFR1 Gene Trigonocephaly type 1 NGS Genetic Test
Short Name: FGFR1 Trigonocephaly NGS
Also known as: FGFR1 Gene Sequencing, Trigonocephaly Type 1 Genetic Test, FGFR1 NGS Panel
FGFR1 Gene Trigonocephaly type 1 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 sample receipt.. 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 purpose of this test is to identify pathogenic mutations in the FGFR1 gene that cause trigonocephaly type 1. It aids in confirming a clinical diagnosis, differentiating from other craniosynostosis syndromes, and providing information for genetic counseling and management.
- Test Code
- 5966
- CPT Code
- 81408
- ICD Code
- Q75.0
- 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 sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation required. However, a genetic counseling session is recommended prior to testing to discuss implications.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample is drawn by a trained phlebotomist. For FTA card, a fingerstick blood drop is applied.
Report Delivery
No specific aftercare needed. Resume normal activities.
Timeline: Reports are typically available within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic mutations in the FGFR1 gene that cause trigonocephaly type 1. It aids in confirming a clinical diagnosis, differentiating from other craniosynostosis syndromes, and providing information for genetic counseling and management.
How to Prepare
- For blood sample: Use EDTA tube, mix gently.
- For FTA card: Apply one drop of blood onto the designated circle, air dry for 30 minutes.
- Label the sample with patient name and date of birth.
- Transport at ambient temperature (15-25°C) within 24 hours.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Trigonocephaly type 1 is a rare craniosynostosis disorder. Early genetic confirmation via NGS is crucial for management and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged delay without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of FGFR1-related trigonocephaly type 1. Genetic counseling recommended.
Likely pathogenic variant detected
Highly suggestive of disease; further family studies may be needed.
Variant of uncertain significance (VUS)
Cannot determine clinical significance; additional testing of family members may help.
No pathogenic variant detected
No mutation found in FGFR1; other genetic or non-genetic causes should be considered.
Consult a clinical geneticist or pediatrician if your child shows signs of trigonocephaly, such as a triangular forehead or early closure of the fontanelle. Also, if there is a family history of craniosynostosis, genetic counseling is advised.
Limitations
- ⚠This test detects mutations only in the FGFR1 gene; other genes may cause trigonocephaly.
- ⚠Large deletions/duplications may not be detected by standard NGS.
- ⚠Variant of uncertain significance (VUS) may require further family studies.
- ⚠Test does not assess non-genetic causes of craniosynostosis.
Risks & Considerations
- ●Minimal risk of bruising or infection at blood draw site
- ●Psychological impact of genetic results
- ●Potential for uncertain results (VUS)
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination during sample collection
- ●Recent blood transfusion (within 2 weeks) may dilute DNA
- ●Incorrect sample storage (e.g., prolonged exposure to high temperature)
Compare With Similar Tests
| Test | FGFR1 Gene Trigonocephaly type 1 NGS Genetic Test | FGFR1 Targeted Mutation Analysis | Craniosynostosis NGS Panel |
|---|---|---|---|
| Comparison | FGFR1 Gene Trigonocephaly type 1 NGS Genetic Test |
Frequently Asked Questions
What is the cost of the FGFR1 Trigonocephaly Type 1 NGS Genetic Test?
What sample is required for this test?
How long does it take to get results?
Is fasting required before the test?
What does the test detect?
Who should consider this test?
Is genetic counseling included?
Can this test be done on a newborn?
What is the accuracy of NGS testing?
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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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