AMPD1 Gene Myopathy due to myoadenylate deaminase deficiency NGS Genetic Test
Also known as: Myoadenylate deaminase deficiency, AMPD1 deficiency myopathy
AMPD1 Gene Myopathy due to myoadenylate deaminase deficiency 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 for report delivery.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 3, 2026
Overview
The purpose of this test is to analyze the AMPD1 gene for mutations that cause myoadenylate deaminase deficiency, providing a definitive diagnosis for individuals with symptoms such as muscle pain, weakness, and fatigue.
- Test Code
- 2202
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks for report delivery.
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
Genetic counseling is recommended to discuss implications and draw a pedigree chart of family members affected.
Method: Phlebotomy or DNA extraction
Laboratory Analysis
Blood sample collection via phlebotomy or DNA extraction from provided samples.
Report Delivery
Apply pressure to the collection site if blood drawn; store samples as per laboratory guidelines.
Timeline: 3 to 4 Weeks for report delivery.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to analyze the AMPD1 gene for mutations that cause myoadenylate deaminase deficiency, providing a definitive diagnosis for individuals with symptoms such as muscle pain, weakness, and fatigue.
How to Prepare
- Ensure proper patient identification
- Use sterile techniques for blood draw
- Store samples at appropriate temperature
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"If you are experiencing symptoms related to this condition or have a family history of AMPD1 Gene Myopathy, consider getting tested for an accurate diagnosis."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed samples
- Insufficient sample volume
- Improperly labeled samples
Understanding Your Results
Confirms diagnosis of AMPD1 gene myopathy; genetic counseling and management recommended
Reduces likelihood of the condition, but clinical correlation and further testing may be advised
Consult a doctor if symptoms persist or worsen, or if there is a family history of myopathies, for further evaluation and genetic counseling.
Limitations
- ⚠Symptoms may overlap with other myopathies
- ⚠Not all mutations may be detected by NGS
Risks & Considerations
- ●Minor bruising at the blood collection site
- ●Very low risk of infection
Interfering Factors
- ●DNA sample quality
- ●Sample contamination
Frequently Asked Questions
What is AMPD1 Gene Myopathy?
What causes AMPD1 Gene Myopathy?
What are the symptoms of AMPD1 Gene Myopathy?
How is AMPD1 Gene Myopathy diagnosed?
What is the cost of the AMPD1 Gene Myopathy NGS Genetic Test?
What sample is required for the test?
How long does it take to get the results?
Is home sample collection available?
Who should consider getting tested?
Can the test detect all mutations in the AMPD1 gene?
What should I do if the test is positive?
Is genetic counseling provided with the test?
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.
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.
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