Skip to main content
DNA Labs India

BAG3 Gene Myopathy, myofibrillar type 6 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

BAG3 Gene Myopathy, myofibrillar type 6 NGS Genetic Test

Short Name: BAG3 Myopathy Type 6 NGS

Also known as: BAG3 Gene Mutation Analysis, Myofibrillar Myopathy 6 Genetic Test, BAG3-Related Myopathy NGS Panel

BAG3 Gene Myopathy, myofibrillar type 6 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 generally available in 3-4 weeks from the date the sample is received by the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAdult🏠 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

The purpose of the BAG3 gene NGS test is to confirm a clinical diagnosis of myofibrillar myopathy type 6 by identifying disease-causing variants in the BAG3 gene, aid in risk stratification and family counselling, and distinguish BAG3-related myopathy from other inherited neuromuscular disorders.

Test Code
4384
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are generally available in 3-4 weeks from the date the sample is received by the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. Pre-test genetic counselling is recommended to review the patient's family history, clinical presentation, and to obtain informed consent.

Method: Peripheral venipuncture / FTA card spot

Step 2

Laboratory Analysis

A blood sample will be collected from a vein in the arm by a trained phlebotomist, or a one-drop blood sample may be collected on an FTA card. The procedure is quick and minimally painful.

Step 3

Report Delivery

There are no restrictions after sample collection. You may resume normal activities immediately. The report will be shared after analysis, usually within 3-4 weeks.

Timeline: Reports are generally available in 3-4 weeks from the date the sample is received by the laboratory.

Patient Instructions

1
Before the Test:No special preparation is required. Pre-test genetic counselling is strongly recommended to understand the implications of the result.
2
During the Test:The test is performed on a small blood sample or FTA card blood spot; DNA is extracted and next-generation sequencing is performed in the laboratory.
3
After the Test:The result will be interpreted by a clinical geneticist and discussed with the referring physician. Genetic counselling for family screening is advised.

About This Test

Who Should Get This Test

The purpose of the BAG3 gene NGS test is to confirm a clinical diagnosis of myofibrillar myopathy type 6 by identifying disease-causing variants in the BAG3 gene, aid in risk stratification and family counselling, and distinguish BAG3-related myopathy from other inherited neuromuscular disorders.

How to Prepare

  • Bring any prior neurological, cardiac, or muscle biopsy reports for correlation
  • Ensure the laboratory request form contains the referring physician's details
  • In case of FTA card, air-dry the card and place it in a sterile envelope
  • Provide a family pedigree for effective genetic counselling

Doctor's Notes

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

"Genetic confirmation in suspected myopathy is key for guiding surveillance for cardiac and respiratory complications. NGS-based testing can yield a definitive diagnosis and inform family risk counselling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per laboratory requirement
ContainerBlood collection tube / DNA vial / FTA card
Collection MethodPeripheral venipuncture / FTA card spot

Sample Stability

48-72 hours
24-48 hours
Several months
Long term
Sample Rejection Criteria:
  • Insufficient blood volume or insufficient DNA quantity
  • Clotted blood due to inadequate mixing with EDTA
  • Hemolyzed or severely lipemic sample
  • FTA card contaminated or incompletely dried
  • No clinical indication or pedigree, or sample labeled incorrectly

Understanding Your Results

Genetic test results should be interpreted by a clinical geneticist in the context of the patient's clinical features, family history, muscle biopsy findings, and other investigations. Variants are classified according to ACMG/AMP guidelines.
Pathogenic variant detected: Confirms the molecular diagnosis of BAG3 gene myopathy, myofibrillar type 6.
Likely pathogenic variant detected: Supports the diagnosis; further familial segregation or functional studies may strengthen causality.
Variant of uncertain significance detected: The clinical significance is unknown; additional testing of affected and unaffected family members may be recommended.
Likely benign / benign variant detected: Not considered causative of the disorder.
No pathogenic variant detected: A BAG3-related cause is not confirmed; evaluation of other myopathy-associated genes may be considered.
⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if you or a family member experience progressive proximal or distal weakness, unexplained respiratory insufficiency, cardiomyopathy, or a known family history of myofibrillar myopathy or sudden cardiac death.

Limitations

  • ⚠Targeted NGS may not reliably detect large deletions, duplications, or deep intronic variants
  • ⚠Variants of uncertain significance may require segregation analysis in family members
  • ⚠A negative BAG3 result does not exclude other genetic causes of myopathy
  • ⚠This test is not intended for prenatal diagnosis or predictive testing in asymptomatic minors unless clinically indicated
  • ⚠The test does not provide functional evidence for variant pathogenicity

Risks & Considerations

  • ●Minimal pain and bruising at the venipuncture site
  • ●Slight dizziness or faintness during blood collection
  • ●Very small risk of bleeding or infection
  • ●Psychological stress associated with learning genetic risk information

Interfering Factors

  • ●Insufficient or degraded DNA reduces NGS sensitivity
  • ●Maternal cell contamination in blood samples from bone marrow transplant recipients
  • ●Mislabeled sample or clerical error
  • ●Sample mix-up
  • ●Use of anticoagulant other than EDTA may impair DNA extraction

Compare With Similar Tests

TestBAG3 Gene Myopathy, myofibrillar type 6 NGS Genetic Test
ComparisonBAG3 Gene Myopathy, myofibrillar type 6 NGS Genetic Test

Frequently Asked Questions

What is BAG3 gene myopathy, myofibrillar type 6?
It is a rare inherited muscle disease caused by mutations in the BAG3 gene, which provides instructions for a protein that supports muscle fibre structure and function. It usually begins in adulthood with progressive muscle weakness and may affect the heart and breathing muscles.
What is the cost of the BAG3 NGS genetic test at DNA Labs India?
The BAG3 gene myopathy, myofibrillar type 6 NGS genetic test costs Rs 20000.0 in India. DNA Labs India offers free home sample collection for this test.
What sample types are accepted for this test?
The test can be performed on blood, extracted DNA, or one drop of blood on an FTA card. The choice of sample will be confirmed by the laboratory when booking.
Is fasting required before the test?
No. This genetic test does not require fasting. You can eat and drink normally before sample collection.
How long will it take to receive the report?
The report is usually provided within 3 to 4 weeks after the laboratory receives the sample.
Is home sample collection available for this test?
Yes, DNA Labs India provides free home sample collection for online bookable tests across many cities in India.
Who should undergo this BAG3 gene test?
It is recommended for individuals with symptoms suggestive of myofibrillar myopathy, such as progressive muscle weakness, cardiomyopathy, respiratory difficulty, family history of BAG3 myopathy, or abnormal muscle biopsy findings consistent with myofibrillar pathology.
How is the BAG3 NGS test different from a muscle biopsy?
A muscle biopsy examines muscle tissue under a microscope and can identify myofibrillar changes, but it cannot identify the underlying gene. The BAG3 NGS test directly looks for pathogenic variants in the BAG3 gene and can provide a definitive molecular diagnosis.
What do the results of the BAG3 NGS test mean?
If a pathogenic or likely pathogenic variant is detected, it confirms the diagnosis of BAG3-related myofibrillar myopathy type 6. If a variant of uncertain significance is found, family studies may be needed. A negative result excludes a BAG3 gene cause in most cases but does not rule out all inherited myopathies.
Can this test detect all types of myofibrillar myopathy?
No. This test analyzes only the BAG3 gene. Myofibrillar myopathies can also be caused by other genes such as DES, CRYAB, MYOT, LDB3, FLNC, and others. A comprehensive myopathy gene panel may be considered if BAG3 testing is negative and clinical suspicion remains.
Is this test covered by insurance?
Coverage varies depending on the insurance policy and the indication. It is advisable to check with your insurance provider. DNA Labs India does not guarantee insurance reimbursement.
Is genetic counselling required before the test?
Yes. A genetic counselling session is included in the test. It helps to draw a pedigree chart, understand the inheritance and implications for family members, and obtain informed consent.
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.

Related Tests

Angelman Syndrome Test

₹10,000

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

₹14,000

Episodic Ataxia Type 1 Hotspot Test

₹11,500

Episodic Ataxia Comprehensive Profile Hotspot Test

₹16,000

Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test

₹7,500

Analyzer 18 SMA 18 Test Panel

₹1,755
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.