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FGFRL1 Gene Radioulnar synostosis, FGFRL1 related NGS Genetic Test

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FGFRL1 Gene Radioulnar synostosis, FGFRL1 related NGS Genetic Test

Short Name: FGFRL1 Radioulnar Synostosis NGS Test

Also known as: FGFRL1 Gene Test, Radioulnar Synostosis Genetic Test, FGFRL1 NGS Test

FGFRL1 Gene Radioulnar synostosis, FGFRL1 related 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 3 to 4 weeks. Free home collection in 300+ cities across India.

Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To identify mutations in the FGFRL1 gene causing radioulnar synostosis for accurate diagnosis, management, and genetic counseling.

Test Code
5129
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required. Provide clinical history and undergo genetic counseling.

Method: Venipuncture or Finger prick for FTA card

Step 2

Laboratory Analysis

Blood sample drawn from a vein or finger prick for FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling session.
2
During the Test:Sample collection via blood draw or FTA card.
3
After the Test:Sample sent to lab for NGS analysis; results available in 3-4 weeks.

About This Test

Who Should Get This Test

To identify mutations in the FGFRL1 gene causing radioulnar synostosis for accurate diagnosis, management, and genetic counseling.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Label samples correctly
  • Transport samples at ambient temperature

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early genetic testing for FGFRL1 mutations can guide management and family planning for affected individuals."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 ml blood
ContainerEDTA tube or FTA Card
Collection MethodVenipuncture or Finger prick for FTA card

Sample Stability

Blood: 24 hours at room temperature
FTA Card: Stable for several weeks at room temperature
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Contaminated sample
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the FGFRL1 gene. Consult a geneticist for detailed interpretation.
Positive result: Pathogenic variant detected, confirming diagnosis.
Negative result: No pathogenic variants found; clinical correlation recommended.
Variant of uncertain significance: Further testing or family studies may be needed.
⚠️ When to Consult a Doctor:

If symptoms persist, for genetic counseling, or to discuss test results and management options.

Limitations

  • ⚠May not detect all possible mutations
  • ⚠Variants of uncertain significance may be identified
  • ⚠Does not rule out other genetic conditions

Risks & Considerations

  • ●Bruising at puncture site
  • ●Rare risk of infection
  • ●Minimal discomfort during blood draw

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Improper sample storage

Frequently Asked Questions

What is FGFRL1 Gene Radioulnar Synostosis?
It is a rare genetic disorder caused by mutations in the FGFRL1 gene, leading to fusion of forearm bones and restricted movement.
What are the symptoms of FGFRL1-related radioulnar synostosis?
Symptoms include restricted forearm movement, abnormal hand/wrist positioning, forearm shortening, and pain.
How is FGFRL1 Gene Radioulnar Synostosis diagnosed?
Diagnosis involves physical examination, imaging tests like X-rays and MRI, and genetic testing to confirm FGFRL1 mutations.
What is NGS Genetic Testing?
Next-Generation Sequencing (NGS) is an advanced method that sequences the genome to identify genetic mutations accurately.
What is the cost of the FGFRL1 Gene Radioulnar Synostosis NGS Genetic Test?
The test costs INR 20000 at DNA Labs India, with home sample collection available.
Is home sample collection available for this test?
Yes, free home sample collection is offered across many cities in India for online bookings.
How long does it take to receive the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What type of sample is required for the test?
The test requires blood, extracted DNA, or one drop of blood on an FTA card.
Do I need to fast before the test?
No fasting is required for this genetic test.
Who should consider getting this genetic test?
Individuals with symptoms, family history of radioulnar synostosis, or those seeking genetic counseling.
What are the treatment options for radioulnar synostosis?
Treatment may include physical therapy, surgery, and symptom management; early diagnosis aids in planning.
How accurate is the NGS Genetic Test for FGFRL1 mutations?
NGS is highly accurate for detecting mutations, but results should be interpreted by a genetic specialist.
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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For Hospitals & Clinics

Reference 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.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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