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AMPD3 Gene AMP deaminase deficiency, erythrocytic NGS Genetic Test

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AMPD3 Gene AMP deaminase deficiency, erythrocytic NGS Genetic Test

Short Name: AMPD3 Gene AMP Deaminase Deficiency Test

Also known as: AMPD3 Deficiency, Erythrocytic AMP Deaminase Deficiency

AMPD3 Gene AMP deaminase deficiency, erythrocytic 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. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To diagnose AMPD3 gene mutations associated with AMP deaminase deficiency in erythrocytes, aiding in the confirmation of clinical symptoms and guiding management and family screening.

Test Code
4632
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
NGS Technology
Step 1

Sample Collection

No specific preparation required. Inform the lab of any medications or supplements.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm or a finger prick for FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:No special preparation needed. Genetic counseling recommended prior to testing.
2
During the Test:Sample collection as per instructions; minimal discomfort expected.
3
After the Test:Wait for results and follow up with healthcare provider for interpretation.

About This Test

Who Should Get This Test

To diagnose AMPD3 gene mutations associated with AMP deaminase deficiency in erythrocytes, aiding in the confirmation of clinical symptoms and guiding management and family screening.

How to Prepare

  • No fasting required for this test.
  • Bring identification and doctor's prescription.
  • Wear loose clothing for easy access to arm.

Doctor's Notes

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

"Genetic testing for AMPD3 deficiency is essential for accurate diagnosis and management, especially for patients with unexplained muscle symptoms or family history, aiding in family planning and care."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per test requirements
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Room temperature24 hours
Refrigerated7 days
Sample Rejection Criteria:
  • Sample hemolyzed
  • Insufficient volume
  • Incorrect container
  • Unlabeled sample

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the AMPD3 gene.
📊

Normal

No pathogenic variants detected. Symptoms may be due to other causes; further evaluation recommended.

📊

Abnormal

Pathogenic variant(s) detected, confirming AMP deaminase deficiency. Consult a geneticist for management and family counseling.

⚠️ When to Consult a Doctor:

If you experience persistent muscle symptoms, abnormal heart rhythms, or have a family history of metabolic disorders, consult a doctor for genetic testing and counseling.

Limitations

  • ⚠May not detect all rare variants
  • ⚠Does not assess enzyme activity directly
  • ⚠Results require genetic counseling for interpretation

Risks & Considerations

  • ●Minimal risk from blood draw: bruising, infection
  • ●Psychological impact of genetic results; counseling available

Interfering Factors

  • ●Hemolyzed blood sample
  • ●Improper sample storage
  • ●Contamination of DNA sample

Compare With Similar Tests

TestAMPD3 Gene AMP deaminase deficiency, erythrocytic NGS Genetic TestAMPD1 Gene TestComprehensive Metabolic Panel
ComparisonAMPD3 Gene AMP deaminase deficiency, erythrocytic NGS Genetic Test

Frequently Asked Questions

What is AMPD3 gene AMP deaminase deficiency?
It is a rare genetic condition caused by mutations in the AMPD3 gene, leading to impaired energy production in red blood cells, especially during exercise or stress.
What are the symptoms of AMPD3 deficiency?
Symptoms include muscle pain, weakness, cramping, fatigue, shortness of breath, and abnormal heart rhythms, often worsened by physical activity.
How is AMPD3 deficiency diagnosed?
Diagnosis is through genetic testing, specifically next-generation sequencing (NGS) of the AMPD3 gene, using a blood or DNA sample.
What is the cost of the AMPD3 genetic test in India?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available across India.
How long does it take to get results?
Results are typically available in 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.
Can this test be used for carrier screening?
Yes, it can screen family members to determine if they are carriers of the AMPD3 gene mutation.
What are the risks of the test?
Risks are minimal, primarily related to blood draw, such as bruising or infection. Genetic counseling is provided to address psychological aspects.
How accurate is the NGS genetic test?
NGS technology is highly accurate for detecting mutations in the AMPD3 gene, but may not identify all rare variants.
What should I do if my test is positive?
Consult a geneticist or healthcare provider for management, lifestyle adjustments, and family counseling.
Is genetic counseling necessary?
Yes, genetic counseling is recommended before and after testing to understand results, implications, and family planning.
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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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.

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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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