Skip to main content
DNA Labs India

AMPD1 Gene Myopathy due to myoadenylate deaminase deficiency NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

AMPD1 Gene Myopathy due to myoadenylate deaminase deficiency NGS Genetic Test

Short Name: AMPD1 Gene Myopathy NGS Genetic Test

Also known as: Myoadenylate Deaminase Deficiency Test, AMPD1 Deficiency Genetic Test, Myopathy NGS Panel

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, Extracted DNA, or One drop Blood on FTA Card samples. Results in Reports available in 3-4 weeks via online portal, email, or WhatsApp.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose AMPD1 gene mutations causing myoadenylate deaminase deficiency, facilitating early management and genetic counseling.

Test Code
1747
Price
₹20,000
Sample Type
Blood, Extracted DNA, or One drop Blood on FTA Card
Result Time
Reports available in 3-4 weeks via online portal, email, or WhatsApp.
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No specific preparation required. Ensure proper identification and clinical history documentation.

Method: Blood draw or Cheek swab

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or cheek swab by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to puncture site. Store sample as per instructions.

Timeline: Reports available in 3-4 weeks via online portal, email, or WhatsApp.

Patient Instructions

1
Before the Test:Genetic counseling recommended prior to testing. Provide detailed clinical history and family pedigree.
2
During the Test:Sample collection as per standard protocol. No discomfort beyond routine blood draw.
3
After the Test:Wait for report generation. Discuss results with healthcare provider.

About This Test

Who Should Get This Test

To diagnose AMPD1 gene mutations causing myoadenylate deaminase deficiency, facilitating early management and genetic counseling.

How to Prepare

  • Fasting not required
  • Use sterile equipment for sample collection
  • Label sample correctly with patient details
  • Transport sample at ambient temperature as specified

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic testing for AMPD1 mutations is essential for confirming diagnosis in patients with unexplained muscle symptoms, aiding in differential diagnosis and guiding management strategies."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One drop Blood on FTA Card
Collection MethodBlood draw or Cheek swab

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods under proper storage
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples
  • Samples older than stability period

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the AMPD1 gene. Positive results confirm myoadenylate deaminase deficiency, while negative results suggest no identifiable mutation, though clinical correlation is advised.
📊

Confirms diagnosis of AMPD1 gene myopathy. Refer for genetic counseling and management.

📊

No mutations detected in AMPD1 gene. Consider other diagnostic tests if symptoms persist.

⚠️ When to Consult a Doctor:

Consult a doctor if you experience unexplained muscle pain, fatigue, weakness, or have a family history of myopathy. Early diagnosis and management can improve outcomes.

Limitations

  • ⚠May not detect all rare or novel mutations
  • ⚠Results require interpretation by a geneticist
  • ⚠Does not assess other genetic causes of myopathy
  • ⚠Limited to AMPD1 gene sequencing only

Risks & Considerations

  • ●Minimal risk associated with blood draw (e.g., bruising, infection)
  • ●Psychological impact of genetic results
  • ●Risk of false negatives or positives due to test limitations

Interfering Factors

  • ●Sample contamination during collection
  • ●Degraded DNA quality
  • ●Recent blood transfusions may affect results
  • ●Improper storage of sample

Compare With Similar Tests

TestAMPD1 Gene Myopathy due to myoadenylate deaminase deficiency NGS Genetic TestCreatine Kinase (CK) TestElectromyography (EMG)Lactate Dehydrogenase (LDH) Test
ComparisonAMPD1 Gene Myopathy due to myoadenylate deaminase deficiency NGS Genetic Test

Frequently Asked Questions

What is AMPD1 Gene Myopathy?
AMPD1 Gene Myopathy is a rare genetic disorder caused by deficiency in the myoadenylate deaminase enzyme, leading to muscle symptoms like pain and weakness.
What are the symptoms of AMPD1 Gene Myopathy?
Symptoms include muscle pain, cramping, fatigue, and weakness, often triggered by exercise, stress, or cold exposure. Symptoms can vary from mild to severe.
How is AMPD1 Gene Myopathy diagnosed?
Diagnosis is through an NGS Genetic Test that analyzes the AMPD1 gene for mutations, typically using a blood sample or cheek swab.
What does the NGS Genetic Test involve?
The test uses Next-Generation Sequencing technology to sequence the AMPD1 gene, identifying pathogenic mutations responsible for the deficiency.
What is the cost of the AMPD1 Gene Myopathy NGS Genetic Test?
The test costs INR 20000 at DNA Labs India, with home sample collection available across India.
Is fasting required for this test?
No, fasting is not required. The test can be done on a blood sample or cheek swab at any time.
How long does it take to get results?
Results are typically available in 3-4 weeks, delivered via online portal, email, or WhatsApp.
Is the test accurate?
The NGS Genetic Test is highly accurate for detecting AMPD1 gene mutations, but may not identify all rare variants. Results should be interpreted by a genetic specialist.
What are the treatment options for AMPD1 Gene Myopathy?
There is no cure, but management includes avoiding triggers, physical therapy, and medications to reduce muscle pain and inflammation.
Is AMPD1 Gene Myopathy hereditary?
Yes, it is an autosomal recessive disorder, meaning both parents must carry the mutation for a child to be affected.
Can AMPD1 Gene Myopathy be prevented?
As a genetic condition, it cannot be prevented, but genetic counseling and early diagnosis can help manage symptoms and inform family planning.
Where can I get tested for AMPD1 Gene Myopathy?
You can get tested at DNA Labs India with home sample collection in cities like Mumbai, Delhi, Bangalore, and many more across India.
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.