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DNA Labs India

LDB3 Gene Myopathy, myofibrillar, ZASP related NGS Genetic Test

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LDB3 Gene Myopathy, myofibrillar, ZASP related NGS Genetic Test

Short Name: LDB3 Myopathy NGS Test

Also known as: LDB3-related myopathy genetic test, ZASP-related myopathy NGS test, Myofibrillar myopathy LDB3 gene analysis

LDB3 Gene Myopathy, myofibrillar, ZASP 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 Reports are issued within 3 to 4 weeks after the sample and clinical details are received.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To confirm or rule out a genetic cause of myofibrillar myopathy / ZASP-related myopathy by analysing the LDB3 gene, supporting clinical management, prognosis, and family counseling.

Test Code
4386
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are issued within 3 to 4 weeks after the sample and clinical details are received.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. Please carry any previous muscle biopsy, EMG, nerve conduction study, and cardiac evaluation reports.

Method: Blood draw / FTA card spot / DNA submission

Step 2

Laboratory Analysis

A small blood sample is collected by venipuncture. Alternatively, an FTA card one-drop blood sample or extracted DNA can be submitted. The procedure is quick and routinely performed.

Step 3

Report Delivery

You can resume normal activities immediately. There are no post-procedure restrictions.

Timeline: Reports are issued within 3 to 4 weeks after the sample and clinical details are received.

Patient Instructions

1
Before the Test:No special preparation is required. The patient should provide clinical history and any prior muscle biopsy or EMG reports.
2
During the Test:A small blood sample is collected by venipuncture. Alternatively, an FTA card one-drop blood sample or extracted DNA can be submitted. The procedure is quick and routinely performed.
3
After the Test:You can resume normal activities immediately. There are no post-procedure restrictions.

About This Test

Who Should Get This Test

To confirm or rule out a genetic cause of myofibrillar myopathy / ZASP-related myopathy by analysing the LDB3 gene, supporting clinical management, prognosis, and family counseling.

How to Prepare

  • No fasting required
  • Blood sample to be collected in an EDTA vacutainer
  • FTA card may be used for one-drop blood collection
  • For extracted DNA, submit in a sterile DNA vial with patient details
  • Ensure that the patient's clinical questionnaire and consent form are completed

Doctor's Notes

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

"Genetic testing should be offered alongside clinical evaluation in patients with suspected myofibrillar myopathy. The identification of a pathogenic LDB3 variant enables targeted screening for cardiac and respiratory complications and allows accurate recurrence-risk counseling for the family."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 mL blood; or 1 drop on FTA card; or 1-5 µg extracted DNA
ContainerEDTA tube / FTA card / DNA vial
Collection MethodBlood draw / FTA card spot / DNA submission

Sample Stability

EDTA blood: 3-5 days at 2-8°C
Extracted DNA: stable for 7 days at -20°C
FTA card: stable at room temperature for several months
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient quantity of sample
  • Sample in wrong container
  • Missing patient identification or clinical history
  • Sample expired beyond storage stability

Understanding Your Results

Results of the NGS genetic test are reported in accordance with ACMG and AMP guidelines. A genetic counselor or clinical geneticist should interpret the result in the context of the patient's clinical presentation and family history.
📊

No evidence of a disease-causing LDB3 gene variant in this analysis. Other genetic or non-genetic causes of myopathy should be considered.

📊

Molecular confirmation of LDB3-related myopathy. Genetic counseling and family segregation testing are recommended.

📊

Insufficient evidence to classify the variant as pathogenic or benign. Additional family studies or functional data may be needed.

⚠️ When to Consult a Doctor:

If you have progressive muscle weakness, unsteady gait, difficulty breathing or swallowing, palpitations, or a family history of myopathy, you should consult a neurologist or clinical geneticist for evaluation.

Limitations

  • NGS may not detect all large structural rearrangements
  • Deep intronic variants, repetitive regions, and homopolymer sequences may be challenging
  • This test is targeted to the LDB3 gene and is not a whole-genome screen
  • A variant of uncertain significance may require additional family studies
  • Results should be interpreted in the context of clinical and family history

Risks & Considerations

  • Minimal risk of bruising or bleeding at the needle site
  • Dizziness or fainting during blood collection
  • Very low risk of infection at the puncture site

Interfering Factors

  • Low-quality DNA due to sample degradation
  • Contamination during sample collection
  • Recent allogeneic blood transfusion may dilute patient DNA
  • Bone marrow transplantation associated chimerism
  • Variants in regions not adequately covered by NGS

Frequently Asked Questions

What is LDB3 gene myopathy?
LDB3 gene myopathy, also called myofibrillar myopathy or ZASP-related myopathy, is a rare inherited condition caused by mutations in the LDB3 gene. It leads to progressive muscle weakness, wasting, and may involve heart and other organ systems.
What does the LDB3 NGS genetic test detect?
This test detects mutations in the LDB3 gene using next-generation sequencing, including single nucleotide variants, small insertions/deletions, and exon-level copy number changes. The clinical report describes variants and classifies them according to ACMG guidelines.
Who should undergo this test?
Individuals with unexplained muscle weakness, myopathic EMG changes, muscle biopsy findings suggesting myofibrillar myopathy, or a family history of LDB3-related disease should undergo genetic counseling and testing.
What is the cost of the LDB3 gene myopathy NGS genetic test?
The test is priced at Rs 20,000 in India. It includes free home sample collection in many cities and transparency with raw data files (FASTQ, VCF) along with the clinical report.
What type of sample is required?
The sample may be whole blood in EDTA, extracted DNA, or one drop of blood on an FTA card. The sample collection is simple and does not require fasting.
Do I need to fast before the test?
No, fasting is not required for the LDB3 NGS genetic test.
How long does it take to get reports?
The report is usually delivered within 3 to 4 weeks after the sample and clinical history are received.
Will I receive raw sequencing data?
Yes, DNA Labs India provides the raw data files, including FASTQ and VCF files, along with the conclusive clinical report for transparency.
Can this test predict the severity of the disease?
The test can confirm a genetic diagnosis, but it cannot predict exact symptom severity. Clinical severity varies even among individuals with the same mutation, so results should be discussed with a specialist.
What does a negative result mean?
A negative result means no pathogenic variant was identified in the LDB3 gene in this analysis. It does not completely exclude all forms of myopathy, and further testing may be considered based on the clinical picture.
How are variants of uncertain significance (VUS) handled?
If a VUS is identified, additional family segregation studies, functional analysis, and/or updated variant classifications may be recommended. Genetic counseling is advised.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in multiple cities across India. The appointment can be booked online.
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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Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

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