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FGFR2 Gene Jackson-Weiss syndrome NGS Genetic Test

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FGFR2 Gene Jackson-Weiss syndrome NGS Genetic Test

Short Name: FGFR2 JWS NGS

Also known as: FGFR2 Gene Sequencing, Jackson-Weiss Syndrome Genetic Test, FGFR2 NGS Panel

FGFR2 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 Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify mutations in the FGFR2 gene that cause Jackson-Weiss syndrome. It is indicated for individuals with clinical features suggestive of craniosynostosis syndromes, family history of the condition, or for prenatal diagnosis in at-risk pregnancies. The test helps confirm the diagnosis, guide management, and provide accurate recurrence risk for family planning.

Test Code
5804
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 delivered within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

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

Step 2

Laboratory Analysis

A blood sample will be collected by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.

Step 3

Report Delivery

No specific aftercare is needed. The sample will be sent to the laboratory for analysis.

Timeline: Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:No specific preparation required. However, a genetic counseling session is recommended to discuss the purpose, risks, and benefits of the test.
2
During the Test:A blood sample is drawn or a fingerstick is performed. The procedure is quick and minimally invasive.
3
After the Test:You can resume normal activities immediately. Results will be available in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the FGFR2 gene that cause Jackson-Weiss syndrome. It is indicated for individuals with clinical features suggestive of craniosynostosis syndromes, family history of the condition, or for prenatal diagnosis in at-risk pregnancies. The test helps confirm the diagnosis, guide management, and provide accurate recurrence risk for family planning.

How to Prepare

  • Ensure the patient's identity is verified.
  • Use sterile equipment for blood collection.
  • If using FTA card, allow the blood spot to dry completely before packaging.
  • Label the sample with patient's name, date of birth, and collection date.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Jackson-Weiss syndrome is a rare craniosynostosis syndrome caused by mutations in the FGFR2 gene. Early genetic confirmation is crucial for appropriate surgical and developmental management. This NGS test provides comprehensive coverage of the FGFR2 gene, enabling accurate diagnosis and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood or 1 drop on FTA card
ContainerEDTA vacutainer or FTA card
Collection MethodVenipuncture or Fingerstick

Sample Stability

Blood in EDTA: 24-48 hours at room temperature, 7 days at 2-8°C
Extracted DNA: stable for months at -20°C
FTA card: stable for years at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improperly labeled sample
  • Sample received after prolonged transit time without proper storage

Understanding Your Results

The interpretation of the FGFR2 gene NGS test is based on the identification of sequence variants and their classification according to ACMG guidelines. A positive result indicates the presence of a pathogenic or likely pathogenic variant, confirming the diagnosis of Jackson-Weiss syndrome. A negative result reduces the likelihood of FGFR2-related disease but does not exclude other genetic causes.
📊

Pathogenic variant detected

Confirms diagnosis of Jackson-Weiss syndrome. Genetic counseling and family screening recommended.

📊

Likely pathogenic variant detected

High likelihood 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 variants detected

Negative result; does not rule out Jackson-Weiss syndrome if clinical suspicion is high. Consider other genetic tests.

⚠️ When to Consult a Doctor:

Consult a clinical geneticist or pediatrician if the test result is positive or if you have concerns about the genetic risk for Jackson-Weiss syndrome. Genetic counseling is recommended for all individuals undergoing this test.

Limitations

  • ⚠This test does not detect all possible mutations; large rearrangements may be missed.
  • ⚠Variants of uncertain significance (VUS) may be reported, requiring further family studies.
  • ⚠Negative result does not rule out other genetic causes of craniosynostosis.

Risks & Considerations

  • ●Minimal risk of bruising or infection at the blood draw site
  • ●Psychological impact of receiving genetic results
  • ●Potential for uncertain results (VUS)

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Incomplete clinical information
  • ●Presence of large deletions/duplications not detected by standard NGS (may require additional testing)

Compare With Similar Tests

TestFGFR2 Gene Jackson-Weiss syndrome NGS Genetic TestFGFR2 Gene Sequencing (Sanger)Craniosynostosis Panel (Multi-gene)
ComparisonFGFR2 Gene Jackson-Weiss syndrome NGS Genetic Test

Frequently Asked Questions

What is Jackson-Weiss syndrome?
Jackson-Weiss syndrome is a rare genetic disorder characterized by craniosynostosis (premature fusion of skull bones), distinctive facial features, and foot abnormalities. It is caused by mutations in the FGFR2 gene.
How is the FGFR2 gene test performed?
The test uses Next Generation Sequencing (NGS) technology to analyze the FGFR2 gene from a blood sample or extracted DNA. The DNA is sequenced to identify any mutations associated with Jackson-Weiss syndrome.
What is the cost of the FGFR2 gene Jackson-Weiss syndrome NGS test?
The test costs INR 20000 at DNA Labs India. This includes the genetic counseling session and the comprehensive NGS analysis.
Is fasting required before the test?
No, fasting is not required for this genetic test. You can eat and drink normally before the sample collection.
What sample is needed for the test?
The sample can be blood (2-3 ml in EDTA tube), extracted DNA, or one drop of blood on an FTA card. Home collection is available for online bookings.
How long does it take to get the results?
The turnaround time is 3 to 4 weeks from the time the sample reaches the laboratory.
What does a positive test result mean?
A positive result indicates the presence of a pathogenic or likely pathogenic variant in the FGFR2 gene, confirming the diagnosis of Jackson-Weiss syndrome. Genetic counseling is recommended.
Can this test be done for prenatal diagnosis?
Yes, the test can be performed on prenatal samples such as amniotic fluid or chorionic villus sampling if there is a known family history. Please consult with your genetic counselor.
Are there any risks associated with the test?
The test is safe with minimal risks such as slight bruising at the blood draw site. There may be psychological implications of genetic results, which is why counseling is provided.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India. The service is available in major metros and other cities.
What is the difference between NGS and Sanger sequencing for this test?
NGS can analyze the entire FGFR2 gene in a single run, detecting multiple variants simultaneously, while Sanger sequencing is more targeted and may miss large deletions. NGS is more comprehensive and cost-effective for this purpose.
Will insurance cover the cost of this test?
Insurance coverage varies. It is recommended to check with your insurance provider. DNA Labs India does not directly bill insurance, but we provide necessary documentation for reimbursement claims.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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