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FKTN Gene Fukuyama congenital muscular dystrophy NGS Genetic Test

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FKTN Gene Fukuyama congenital muscular dystrophy NGS Genetic Test

Also known as: FCMD, Fukuyama congenital muscular dystrophy

FKTN Gene Fukuyama congenital muscular dystrophy 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. Free home collection in 300+ cities across India.

NGS Genetic TestInfants🏠 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 diagnose Fukuyama Congenital Muscular Dystrophy by detecting mutations in the FKTN gene, enabling early intervention and management.

Test Code
1627
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
NGS Technology
Step 1

Sample Collection

No specific preparation required, but provide clinical history and pedigree chart.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture by a trained professional.

Step 3

Report Delivery

Apply pressure to the puncture site; monitor for any adverse effects.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide detailed clinical history and family pedigree chart; undergo genetic counseling.
2
During the Test:Sample collection is quick and minimally invasive; analyzed using NGS technology.
3
After the Test:Follow-up with healthcare provider for result interpretation and management planning.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose Fukuyama Congenital Muscular Dystrophy by detecting mutations in the FKTN gene, enabling early intervention and management.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile collection equipment
  • Handle the FTA card appropriately if used

Doctor's Notes

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

"Early diagnosis of Fukuyama congenital muscular dystrophy through genetic testing is crucial for initiating supportive therapies and improving long-term outcomes for affected infants."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood: 24-48 hours at room temperature
Extracted DNA: Stable for weeks if stored properly
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient volume
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of mutations in the FKTN gene associated with Fukuyama Congenital Muscular Dystrophy.
Positive result: Pathogenic variant detected, confirming diagnosis
Negative result: No pathogenic variant detected, but clinical correlation needed
Variant of uncertain significance: Further testing or family studies recommended
⚠️ When to Consult a Doctor:

Consult a geneticist or neurologist immediately upon receiving a positive result or if symptoms persist despite a negative result.

Limitations

  • ⚠May not detect all rare mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risks from blood draw: bruising, infection at puncture site

Interfering Factors

  • ●Poor sample quality
  • ●Contamination during collection
  • ●Insufficient DNA quantity

Compare With Similar Tests

TestFKTN Gene Fukuyama congenital muscular dystrophy NGS Genetic Test
ComparisonFKTN Gene Fukuyama congenital muscular dystrophy NGS Genetic Test

Frequently Asked Questions

What is the FKTN Gene FCMD NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the FKTN gene, which causes Fukuyama Congenital Muscular Dystrophy.
Who should get this test?
Infants or individuals with symptoms such as muscle weakness, poor tone, joint contractures, or developmental delays, and those with a family history of FCMD.
What are the symptoms of Fukuyama Congenital Muscular Dystrophy?
Symptoms include severe muscle weakness, hypotonia, joint contractures, delayed motor skills, and cognitive impairment, usually appearing at birth or within months.
How is the test performed?
A blood sample is collected and analyzed using NGS technology to sequence the FKTN gene for mutations.
What is the cost of the test?
The cost is INR 20,000, inclusive of home sample collection across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results mean?
A positive result indicates a pathogenic mutation in the FKTN gene, confirming FCMD. A negative result means no mutation was detected, but clinical correlation is needed.
Is genetic counseling necessary?
Yes, genetic counseling is recommended before and after testing to understand implications for treatment and family planning.
What are the treatment options after diagnosis?
Treatment focuses on symptom management, including physical therapy, occupational therapy, and medications for complications.
Is the test covered by insurance?
Coverage varies by insurance provider; check with your insurer for specific policies on genetic testing.
How accurate is the NGS genetic test?
NGS technology is highly accurate for detecting mutations, but accuracy depends on sample quality and analysis methods. It is considered reliable for diagnostic purposes.
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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