FGFR1 Gene Jackson-Weiss syndrome NGS Genetic Test
Short Name: FGFR1 JWS NGS
Also known as: FGFR1 Gene Sequencing, Jackson-Weiss Syndrome Genetic Test, FGFR1 NGS Panel
FGFR1 Gene Jackson-Weiss 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 Results 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 mutations in the FGFR1 gene that cause Jackson-Weiss syndrome. Genetic confirmation helps in: 1) Establishing a definitive diagnosis in individuals with clinical features suggestive of the syndrome. 2) Differentiating Jackson-Weiss syndrome from other craniosynostosis syndromes (e.g., Crouzon, Apert, Pfeiffer) with overlapping phenotypes. 3) Providing accurate recurrence risk information for family planning. 4) Guiding clinical management, including surgical planning for craniofacial and foot abnormalities. 5) Enabling prenatal diagnosis in at-risk pregnancies if a familial mutation is identified.
- Test Code
- 5800
- 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
- Results 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 the implications and obtain informed consent.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample is collected by a trained phlebotomist using standard venipuncture technique. For FTA card, a fingerstick blood drop is applied to the card.
Report Delivery
No specific precautions. The sample is transported to the laboratory at ambient temperature.
Timeline: Results 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 mutations in the FGFR1 gene that cause Jackson-Weiss syndrome. Genetic confirmation helps in: 1) Establishing a definitive diagnosis in individuals with clinical features suggestive of the syndrome. 2) Differentiating Jackson-Weiss syndrome from other craniosynostosis syndromes (e.g., Crouzon, Apert, Pfeiffer) with overlapping phenotypes. 3) Providing accurate recurrence risk information for family planning. 4) Guiding clinical management, including surgical planning for craniofacial and foot abnormalities. 5) Enabling prenatal diagnosis in at-risk pregnancies if a familial mutation is identified.
How to Prepare
- Ensure the patient's identity is verified before sample collection.
- Use EDTA vacutainer for blood collection; mix gently to prevent clotting.
- If using FTA card, allow the blood spot to dry completely before packaging.
- Label the sample with patient name, date, and unique ID.
- Transport the sample to the laboratory within 24-48 hours.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Jackson-Weiss syndrome is a rare craniosynostosis syndrome with characteristic foot anomalies. Genetic confirmation is essential for accurate diagnosis, prognosis, and family counseling. NGS-based testing provides comprehensive analysis of the FGFR1 gene, enabling early intervention and management."
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
- Sample received after prolonged transit time without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Jackson-Weiss syndrome. Genetic counseling and family screening recommended.
Likely pathogenic variant detected
Highly suggestive of disease; further evidence may be needed. Clinical correlation advised.
Variant of uncertain significance (VUS)
Insufficient evidence to determine pathogenicity. Additional testing of family members may help.
No pathogenic variant detected
No mutation found in FGFR1. Consider other genetic causes if clinical features persist.
Consult a clinical geneticist or pediatrician if your child has features suggestive of craniosynostosis or foot anomalies, or if there is a family history of Jackson-Weiss syndrome. Early referral for genetic testing can aid in management.
Limitations
- ⚠This test detects mutations in the FGFR1 gene only; other genes may be involved in similar phenotypes.
- ⚠Variant of uncertain significance (VUS) may require additional family studies.
- ⚠Not intended for carrier screening or prenatal diagnosis without prior counseling.
- ⚠Regulatory regions and deep intronic variants may not be fully analyzed.
- ⚠Results should be interpreted in the context of clinical findings and family history.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for uncertain results (VUS) requiring further testing
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination during sample collection
- ●Presence of maternal cell contamination in prenatal samples
- ●Rare variants in non-coding regions not covered by standard NGS
- ●Large deletions/duplications not detected by sequencing alone
Compare With Similar Tests
| Test | FGFR1 Gene Jackson-Weiss syndrome NGS Genetic Test | FGFR1 Gene Sequencing (Sanger) | Craniosynostosis Panel (NGS) | Chromosomal Microarray (CMA) |
|---|---|---|---|---|
| Comparison | FGFR1 Gene Jackson-Weiss syndrome NGS Genetic Test | Targeted single-gene sequencing, lower cost, but may miss large deletions. NGS provides broader coverage and faster turnaround. | Includes multiple genes (FGFR1, FGFR2, FGFR3, TWIST1, etc.), more comprehensive but higher cost. | Detects copy number variants, not point mutations. Useful if NGS is negative. |
Frequently Asked Questions
What is Jackson-Weiss syndrome?
What are the symptoms of Jackson-Weiss syndrome?
How is Jackson-Weiss syndrome diagnosed?
What is the cost of the FGFR1 gene NGS test at DNA Labs India?
What sample is required for the test?
Is fasting required before the test?
How long does it take to get results?
Can the test be done on a newborn?
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What if the test result is negative?
Is genetic counseling included?
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₹20,000Reference Laboratory Services
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