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FKRP Gene Walker-Warburg syndrome or muscle-eye-brain disease, FKRP related NGS Genetic Test

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FKRP Gene Walker-Warburg syndrome or muscle-eye-brain disease, FKRP related NGS Genetic Test

Short Name: FKRP Gene NGS Test

Also known as: Muscle-Eye-Brain Disease, Walker-Warburg Syndrome

FKRP Gene Walker-Warburg syndrome or muscle-eye-brain disease, FKRP related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from sample receipt. 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

To identify mutations in the FKRP gene for diagnosis of Walker-Warburg syndrome or muscle-eye-brain disease, aiding in clinical management and genetic counseling.

Test Code
4606
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Genetic counseling recommended. Provide detailed clinical history of the patient and family pedigree chart.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card by trained phlebotomist.

Step 3

Report Delivery

Sample labeled and transported to lab under ambient room temperature for analysis.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications and draw family pedigree chart.
2
During the Test:Sample collection and processing using NGS technology for FKRP gene analysis.
3
After the Test:Report generation with detailed findings and consultation with genetic specialist.

About This Test

Who Should Get This Test

To identify mutations in the FKRP gene for diagnosis of Walker-Warburg syndrome or muscle-eye-brain disease, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure proper sample labeling with patient details
  • Avoid hemolysis during blood draw
  • Store blood sample at ambient temperature
  • Use FTA card as per instructions

Doctor's Notes

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

"Early genetic testing is crucial for diagnosis and management of Walker-Warburg syndrome, enabling timely intervention and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card

Sample Stability

Blood: 2-8°C for up to 7 days
FTA card: Room temperature for extended periods
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or hemolyzed sample
  • Incorrect labeling or missing information

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the FKRP gene, which are associated with Walker-Warburg syndrome.
📊

Consistent with diagnosis of Walker-Warburg syndrome or related disorder; clinical correlation recommended.

📊

FKRP gene mutations not identified; consider other genetic tests or clinical evaluation.

⚠️ When to Consult a Doctor:

If symptoms of Walker-Warburg syndrome are present, for family planning advice, or after receiving test results for interpretation and management.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Results require clinical correlation
  • ⚠Limited to FKRP gene analysis

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising)
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Incorrect sample handling

Compare With Similar Tests

TestFKRP Gene Walker-Warburg syndrome or muscle-eye-brain disease, FKRP related NGS Genetic Test
ComparisonFKRP Gene Walker-Warburg syndrome or muscle-eye-brain disease, FKRP related NGS Genetic Test

Frequently Asked Questions

What is FKRP Gene Walker-Warburg syndrome?
It is a rare genetic disorder caused by mutations in the FKRP gene, leading to abnormalities in muscles, eyes, and brain development.
What are the common symptoms of Walker-Warburg syndrome?
Symptoms include developmental delays, seizures, vision problems, progressive muscle weakness, brain malformations, and respiratory issues.
How is Walker-Warburg syndrome diagnosed?
Diagnosis involves physical exams, imaging tests (MRI/CT), and genetic testing like NGS to identify FKRP gene mutations.
What is the cost of FKRP related NGS Genetic Test in India?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available across India.
How long does it take to get the test results?
Results are typically available in 3 to 4 weeks from sample receipt.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
What sample types are accepted for the test?
Blood, extracted DNA, or one drop of blood on FTA card are accepted.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Who should consider getting this genetic test?
Individuals with symptoms of Walker-Warburg syndrome, family history of the disorder, or for diagnostic confirmation.
What does a positive test result mean?
A positive result indicates pathogenic variants in the FKRP gene, supporting a diagnosis of Walker-Warburg syndrome; genetic counseling is recommended.
Can this test be used for prenatal diagnosis?
Yes, it can be used for prenatal diagnosis if there is a known family history, but consultation with a genetic specialist is essential.
How accurate is the NGS genetic test for FKRP gene?
NGS is highly accurate for detecting mutations, but results should be correlated with clinical findings for definitive diagnosis.
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

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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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