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LAMP2 Gene Danon disease NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

LAMP2 Gene Danon disease NGS Genetic Test

Short Name: Danon Disease NGS Test

Also known as: LAMP2 Deficiency, Danon Disease Genetic Test, LAMP2-Related Cardiomyopathy Test

LAMP2 Gene Danon disease 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 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to identify mutations in the LAMP2 gene that cause Danon disease, enabling accurate diagnosis, guiding treatment strategies, and facilitating family planning through genetic counseling.

Test Code
5252
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Provide clinical history of the patient, including symptoms and family history. A genetic counseling session is recommended to draw a pedigree chart of affected family members.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Standard blood draw procedure using venipuncture or finger prick for FTA card. Ensure proper labeling and handling of samples.

Step 3

Report Delivery

Sample is processed for DNA extraction and NGS analysis. Store sample as per laboratory guidelines.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are required. No specific preparation needed, but inform the lab of any health conditions.
2
During the Test:Blood sample collection via venipuncture or finger prick. The process is quick and minimally invasive.
3
After the Test:Sample sent for NGS analysis. Results available in 3-4 weeks. Follow-up with genetic counselor recommended.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the LAMP2 gene that cause Danon disease, enabling accurate diagnosis, guiding treatment strategies, and facilitating family planning through genetic counseling.

How to Prepare

  • Fast for 4-8 hours if required, though not mandatory for this test
  • Avoid strenuous exercise before sample collection
  • Inform the lab of any medications or recent transfusions
  • Use sterile equipment for blood collection
  • Label samples correctly with patient details

Doctor's Notes

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

"Early genetic testing for Danon disease is crucial for managing cardiac risks and informing family planning decisions, especially in X-linked inheritance patterns."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeVaries based on sample type
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Incorrect sample container or labeling
  • Sample contaminated or degraded

Understanding Your Results

Results are interpreted based on the presence or absence of pathogenic variants in the LAMP2 gene. Genetic counseling is essential to understand the implications for the patient and family.
📊

Pathogenic variant detected

Confirms diagnosis of Danon disease. Recommend clinical management and family screening.

📊

No pathogenic variant detected

Danon disease unlikely, but clinical correlation is needed. Consider other genetic or non-genetic causes.

📊

Variant of uncertain significance (VUS)

Further testing or family studies may be required. Genetic counseling advised.

⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms like chest pain, muscle weakness, or cognitive issues, or if there is a family history of Danon disease. Genetic counseling is recommended before and after testing.

Limitations

  • May not detect all types of genetic mutations, such as large deletions or deep intronic variants
  • Results require clinical correlation and are not standalone diagnostic
  • Cannot predict disease severity or progression accurately
  • Variants of uncertain significance (VUS) may be identified, requiring further evaluation

Risks & Considerations

  • Minor bruising or discomfort at blood draw site
  • Rare risk of infection
  • Emotional impact of genetic results

Interfering Factors

  • Poor sample quality or insufficient DNA
  • Contamination during sample collection or processing
  • Hemolyzed blood sample
  • Recent blood transfusion affecting DNA analysis

Compare With Similar Tests

TestLAMP2 Gene Danon disease NGS Genetic TestCardiac MRIMuscle BiopsyECG/EchocardiogramSingle-Gene Sequencing
ComparisonLAMP2 Gene Danon disease NGS Genetic Test

Frequently Asked Questions

What is Danon disease?
Danon disease is a rare X-linked genetic disorder caused by mutations in the LAMP2 gene, leading to cardiomyopathy, skeletal muscle weakness, and cognitive impairment.
How is the LAMP2 Gene Danon Disease NGS Genetic Test performed?
The test uses next-generation sequencing to analyze the LAMP2 gene from a blood or DNA sample, identifying mutations associated with Danon disease.
What is the cost of this test?
The test costs INR 20000 at DNA Labs India, with free home sample collection available across India.
Who should consider this test?
Individuals with symptoms of Danon disease, family history of the condition, or unexplained cardiomyopathy should consider this test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India.
What sample is required for the test?
The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
What do the results mean?
Results indicate the presence or absence of pathogenic variants in the LAMP2 gene. Genetic counseling is recommended to interpret findings.
Can this test be used for prenatal diagnosis?
Yes, with appropriate genetic counseling, this test can aid in prenatal diagnosis if there is a known family history.
What are the limitations of this test?
The test may not detect all mutation types, and variants of uncertain significance may require further evaluation.
How accurate is the NGS Genetic Test?
NGS technology provides high accuracy for detecting genetic mutations, but results should be correlated with clinical findings.
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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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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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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