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MTRR Gene Homocystinuria-megaloblastic anemia, cbl E type NGS Genetic Test

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MTRR Gene Homocystinuria-megaloblastic anemia, cbl E type NGS Genetic Test

Short Name: MTRR Gene Homocystinuria Test

Also known as: cbl E type homocystinuria, MTRR deficiency, Methionine synthase reductase deficiency

MTRR Gene Homocystinuria-megaloblastic anemia, cbl E type 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 3 to 4 weeks. Free home collection in 300+ cities across India.

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

The purpose of this test is to detect mutations in the MTRR gene to confirm a diagnosis of homocystinuria-megaloblastic anemia, cbl E type, guide treatment decisions, and enable genetic counseling for affected families.

Test Code
5330
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

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

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm. For saliva or FTA card, follow instructions provided.

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:Consult with a genetic counselor to understand the test implications. No fasting required.
2
During the Test:The test involves a simple blood draw or saliva sample collection. The process is quick and minimally invasive.
3
After the Test:Results will be available in 3 to 4 weeks. Follow up with your doctor for interpretation and next steps.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the MTRR gene to confirm a diagnosis of homocystinuria-megaloblastic anemia, cbl E type, guide treatment decisions, and enable genetic counseling for affected families.

How to Prepare

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

Doctor's Notes

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

"Early detection of MTRR gene mutations through NGS testing is crucial for timely intervention in homocystinuria, preventing severe complications like intellectual disability and cardiovascular issues."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood
ContainerEDTA tube for blood
Collection MethodVenipuncture

Sample Stability

Blood: 48 hours at room temperature
Extracted DNA: stable for years if stored properly
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient volume
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of mutations in the MTRR gene. A positive result confirms the diagnosis, while a negative result may require further testing.
📊

Positive for pathogenic mutation

Confirms diagnosis of homocystinuria-megaloblastic anemia, cbl E type. Genetic counseling and treatment recommended.

📊

Negative for pathogenic mutation

No mutations detected in MTRR gene. Clinical correlation and additional tests may be needed.

📊

Variant of uncertain significance

Further analysis and family studies recommended.

⚠️ When to Consult a Doctor:

If you experience symptoms such as developmental delays, seizures, or anemia, or if you have a family history of homocystinuria, consult a genetic specialist.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Cannot determine severity of condition
  • ⚠Results require clinical correlation

Risks & Considerations

  • ●Minimal risk from blood draw: bruising, infection
  • ●No significant risks for saliva collection

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample type

Compare With Similar Tests

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ComparisonMTRR Gene Homocystinuria-megaloblastic anemia, cbl E type NGS Genetic Test

Frequently Asked Questions

What is the MTRR Gene Homocystinuria-megaloblastic anemia, cbl E type NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the MTRR gene, which causes a rare disorder affecting vitamin B12 processing.
Who should get this test?
Individuals with symptoms like developmental delay, seizures, anemia, or a family history of homocystinuria should consider this test.
How is the test performed?
A small blood or saliva sample is collected and analyzed using NGS technology to identify MTRR gene mutations.
What is the cost of the test?
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 within 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 are the symptoms of homocystinuria-megaloblastic anemia, cbl E type?
Symptoms include developmental delay, intellectual disability, seizures, weak muscle tone, pale skin, enlarged liver and spleen, and megaloblastic anemia.
How is this disorder inherited?
It is inherited in an autosomal recessive pattern, meaning both parents must carry a mutation in the MTRR gene.
What does a positive result mean?
A positive result confirms the presence of pathogenic mutations in the MTRR gene, indicating a diagnosis of the disorder.
What does a negative result mean?
A negative result means no pathogenic mutations were detected, but clinical correlation and further testing may be needed.
Are there any risks associated with the test?
Risks are minimal, such as bruising from blood draw. No significant risks for saliva collection.
How can I prepare for the test?
No special preparation is required. Inform the lab about any medications and follow sample collection instructions.
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

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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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