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AMN Gene Megaloblastic anemia type 1 NGS Genetic Test

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AMN Gene Megaloblastic anemia type 1 NGS Genetic Test

Also known as: MGA1, Megaloblastic Anemia Type 1

AMN Gene Megaloblastic anemia type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) 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.

Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose AMN Gene Megaloblastic Anemia Type 1 by identifying mutations in the AMN gene using NGS technology, enabling early intervention and management.

Test Code
5602
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 (Next-Generation Sequencing)
Step 1

Sample Collection

No specific preparation required, but inform the healthcare provider about any medications or supplements.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm using standard venipuncture techniques.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Resume normal activities unless advised otherwise.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:No fasting required. Provide clinical history and family pedigree during genetic counseling.
2
During the Test:Blood sample collection takes a few minutes. The test involves NGS analysis in the lab.
3
After the Test:Results are available in 3-4 weeks. Genetic counseling will be provided to discuss findings.

About This Test

Who Should Get This Test

To diagnose AMN Gene Megaloblastic Anemia Type 1 by identifying mutations in the AMN gene using NGS technology, enabling early intervention and management.

How to Prepare

  • Ensure proper identification
  • Use sterile equipment
  • Label samples correctly

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Genetic testing for AMN gene mutations is essential for confirming diagnosis and guiding family planning. Early intervention can prevent severe anemia and neurological complications."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Sample Stability

Blood samples stable at room temperature for 24 hours
Extracted DNA stable for longer periods
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the AMN gene. Consult a genetic counselor for detailed interpretation.
📊

Positive

Pathogenic variant detected, confirming diagnosis

📊

Negative

No pathogenic variants detected, but clinical correlation needed

⚠️ When to Consult a Doctor:

If symptoms persist or worsen, or if family history suggests genetic risk, consult a geneticist or hematologist.

Limitations

  • May not detect all genetic variants
  • Results require clinical correlation

Risks & Considerations

  • Minor bruising at puncture site
  • Rare infection risk

Frequently Asked Questions

What is AMN Gene Megaloblastic Anemia Type 1?
It is a rare genetic disorder caused by mutations in the AMN gene, leading to impaired vitamin B12 absorption and megaloblastic anemia.
What are the symptoms of this condition?
Symptoms include fatigue, weakness, pale skin, shortness of breath, and neurological issues like numbness or difficulty walking.
How is the condition diagnosed?
Diagnosis involves blood tests for vitamin B12 levels and genetic testing to confirm AMN gene mutations.
What does the NGS Genetic Test involve?
It uses next-generation sequencing to analyze the AMN gene for mutations, providing a comprehensive genetic profile.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India, including genetic counseling.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What do the test results mean?
Results indicate the presence or absence of pathogenic variants in the AMN gene. A genetic counselor will explain the implications.
Is genetic counseling included?
Yes, genetic counseling is included in the test cost to help interpret results and provide support.
Can this test be used for prenatal diagnosis?
It may be used for carrier testing or prenatal diagnosis in families with known mutations, but consult a geneticist for guidance.
What are the treatment options after diagnosis?
Treatment often includes vitamin B12 supplementation and monitoring for complications, guided by a healthcare provider.
How accurate is the NGS Genetic Test?
NGS technology is highly accurate for detecting gene 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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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.

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