LAMP2 Gene Danon disease NGS Genetic Test
Short Name: LAMP2 Danon Disease NGS Test
Also known as: LAMP2 Gene Sequencing, LAMP2 Gene Mutation Analysis, Danon Disease Genetic 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 Reports are released within 3 to 4 weeks after the laboratory receives the sample.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the LAMP2 Gene Danon Disease NGS Genetic Test is to detect pathogenic variants in the LAMP2 gene, confirm or exclude Danon disease, support clinical management, and provide genetic information for family members and reproductive risk assessment.
- Test Code
- 3995
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are released within 3 to 4 weeks after the laboratory receives the sample.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. A valid doctor's referral and clinical history are advised. A genetic counselling session to draw a pedigree chart of affected family members is recommended before testing.
Method: Venipuncture / FTA blood spot
Laboratory Analysis
A blood sample is collected by a trained phlebotomist. If FTA card is used, one drop of blood is applied onto the card and allowed to dry. The process is quick and minimally invasive.
Report Delivery
There are no restrictions after sample collection. You can resume normal activities. The sample is transported to the laboratory for DNA extraction, sequencing, and bioinformatics analysis.
Timeline: Reports are released within 3 to 4 weeks after the laboratory receives the sample.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the LAMP2 Gene Danon Disease NGS Genetic Test is to detect pathogenic variants in the LAMP2 gene, confirm or exclude Danon disease, support clinical management, and provide genetic information for family members and reproductive risk assessment.
How to Prepare
- No special preparation is required
- Bring clinical history and previous test reports
- Genetic testing consent must be completed
- Carry a valid identity proof for sample collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for LAMP2 variants is valuable in reproductive and family planning counselling. Identifying carriers allows for informed decisions and cascade screening in at-risk family members."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolysed or clotted blood sample
- Insufficient quantity of sample
- Mislabeled sample
- Improper storage or transport conditions
- Sample received after prolonged delay without appropriate preservation
Understanding Your Results
Pathogenic or likely pathogenic variant detected
Diagnosis of Danon disease is genetically confirmed; appropriate surveillance, cardiac monitoring, and family testing should be initiated.
Variant of uncertain significance (VUS)
A VUS is not diagnostic. Additional familial segregation studies and functional evidence may help determine its clinical significance.
No pathogenic variant detected
A negative result reduces the likelihood of LAMP2-associated Danon disease but does not rule out other genetic or non-genetic causes.
Consult a doctor if you or a family member have unexplained cardiomyopathy, muscle weakness, intellectual disability, eye abnormalities, or a confirmed family history of LAMP2-associated Danon disease. Genetic counselling and testing can help guide early diagnosis and management.
Limitations
- ⚠NGS may not reliably detect large deletions or duplications unless copy number variant analysis is included.
- ⚠Deep intronic variants, repeat expansions, or mitochondrial DNA variants are not covered by this test.
- ⚠A variant of uncertain significance may not confirm or exclude a diagnosis.
- ⚠A negative result does not exclude the possibility of genetic disease caused by variants in other genes.
Risks & Considerations
- ●Minor bruising or discomfort at the needle site
- ●Dizziness or light-headedness during blood collection
- ●Rare infection or hematoma at the venipuncture site
Interfering Factors
- ●Sample contamination with maternal DNA
- ●Degraded DNA due to prolonged storage or transport
- ●Incomplete gene coverage in regions with high GC content
- ●Recent bone marrow transplantation or blood transfusion causing mixed DNA profile
Compare With Similar Tests
| Test | LAMP2 Gene Danon disease NGS Genetic Test | |||
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| Comparison | LAMP2 Gene Danon disease NGS Genetic Test |
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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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✓ 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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