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BIN1 Gene Centronuclear Myopathy Type 2 NGS Genetic Test

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BIN1 Gene Centronuclear Myopathy Type 2 NGS Genetic Test

Short Name: BIN1 Gene Centronuclear Myopathy Type 2 Test

Also known as: BIN1 Gene Test, Centronuclear Myopathy Type 2 Genetic Test, Amphiphysin 2 Gene Test

BIN1 Gene Centronuclear Myopathy Type 2 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 Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To detect mutations in the BIN1 gene associated with Centronuclear Myopathy Type 2, aiding in diagnosis, genetic counseling, and treatment planning.

Test Code
1530
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 special preparation required. Inform the laboratory about any medications or health conditions.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample is drawn from a vein in the arm using standard venipuncture techniques.

Step 3

Report Delivery

Apply pressure to the site to stop bleeding. Resume normal activities.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session recommended to understand test implications.
2
During the Test:Sample collection takes a few minutes in a clinical setting.
3
After the Test:Results are delivered online; follow-up with a healthcare provider for interpretation.

About This Test

Who Should Get This Test

To detect mutations in the BIN1 gene associated with Centronuclear Myopathy Type 2, aiding in diagnosis, genetic counseling, and treatment planning.

How to Prepare

  • Ensure sample is labeled correctly with patient details
  • Use appropriate collection tubes
  • Transport sample to laboratory promptly

Doctor's Notes

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

"This test is vital for diagnosing hereditary muscle disorders, enabling early intervention and personalized management for improved patient outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood sampleStable for 48 hours at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the BIN1 gene.
📊

Positive

Pathogenic mutation detected, confirmatory diagnosis of Centronuclear Myopathy Type 2

Action: Consult a geneticist for management and counseling

📊

Negative

No pathogenic variants detected

Action: Consider other diagnostic tests if symptoms persist

📊

Variant of unknown significance

Genetic variant detected but significance unclear

Action: Further testing and clinical correlation recommended

⚠️ When to Consult a Doctor:

Consult a doctor if results are positive or if you have symptoms of muscle weakness, regardless of test outcome.

Limitations

  • May not detect all possible mutations in the BIN1 gene
  • Results may include variants of unknown significance
  • Not a substitute for clinical evaluation

Risks & Considerations

  • Minimal risk from blood draw, such as bruising or infection

Interfering Factors

  • Sample contamination
  • Improper sample storage
  • Hemolyzed blood sample

Frequently Asked Questions

What is the BIN1 Gene Centronuclear Myopathy Type 2 NGS Genetic Test?
It is a genetic test using Next-Generation Sequencing to detect mutations in the BIN1 gene, which causes Centronuclear Myopathy Type 2, a muscle disorder.
Why is this test recommended?
It is recommended for individuals with symptoms like muscle weakness or a family history of muscular dystrophy to confirm diagnosis and guide treatment.
What are the symptoms of BIN1 Gene Centronuclear Myopathy Type 2?
Common symptoms include muscle weakness, difficulty walking, fatigue, difficulty swallowing, and delayed motor development in children.
How is the test performed?
The test analyzes DNA from a blood sample using NGS technology to identify mutations in the BIN1 gene.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card is required.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
What is the cost of the test in India?
The cost is approximately INR 20,000, which may include home collection services.
Is home sample collection available?
Yes, free home sample collection is offered in many cities across India for this test.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as slight bruising or infection, which are rare.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the BIN1 gene, confirming diagnosis of Centronuclear Myopathy Type 2.
How can I prepare for the test?
No special preparation is needed; however, a genetic counseling session is advised before testing.
Where can I get this test done in India?
The test is available at certified genetic testing laboratories like DNA Labs India, with online booking and home collection.
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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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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