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CYB5R3 Gene Methemoglobinemia type 1 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

CYB5R3 Gene Methemoglobinemia type 1 NGS Genetic Test

Short Name: CYB5R3 Methemoglobinemia Test

Also known as: CYB5R3-related methemoglobinemia, Hereditary methemoglobinemia type 1, NADH-methemoglobin reductase deficiency

CYB5R3 Gene Methemoglobinemia type 1 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.

NGS Genetic Test🏠 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 CYB5R3 gene mutations causing Methemoglobinemia Type 1, confirm hereditary basis, guide treatment, and facilitate genetic counseling for affected individuals and families.

Test Code
5604
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. Provide clinical history and family pedigree information.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card by trained phlebotomist.

Step 3

Report Delivery

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

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide detailed clinical history and family pedigree. No fasting required.
2
During the Test:Blood sample drawn; minimal discomfort. Process takes a few minutes.
3
After the Test:Resume normal activities. Await results in 3-4 weeks.

About This Test

Who Should Get This Test

To diagnose CYB5R3 gene mutations causing Methemoglobinemia Type 1, confirm hereditary basis, guide treatment, and facilitate genetic counseling for affected individuals and families.

How to Prepare

  • Ensure proper identification of patient
  • Use sterile collection equipment
  • Label samples accurately
  • Transport to lab within stability period

Doctor's Notes

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

"This test is crucial for diagnosing hereditary methemoglobinemia, guiding treatment, and informing family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood: 2-8°C for 72 hours
FTA Card: Room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrect labeling or documentation

Understanding Your Results

Results indicate presence or absence of mutations in the CYB5R3 gene associated with Methemoglobinemia Type 1.
📊

Positive for pathogenic variant

Confirms diagnosis of CYB5R3-related methemoglobinemia. Genetic counseling recommended.

📊

Negative for pathogenic variant

No mutation detected; clinical correlation advised if symptoms persist.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms like cyanosis, fatigue, or have a family history of methemoglobinemia. After testing, discuss results with a geneticist or hematologist for management.

Limitations

  • ⚠May not detect all possible mutations in CYB5R3 gene
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw: bruising, infection
  • ●No significant risks from genetic testing itself

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Improper sample storage or handling
  • ●Recent blood transfusion may affect DNA analysis

Compare With Similar Tests

TestCYB5R3 Gene Methemoglobinemia type 1 NGS Genetic TestMethemoglobin Level TestHemoglobin ElectrophoresisSanger SequencingWhole Exome Sequencing
ComparisonCYB5R3 Gene Methemoglobinemia type 1 NGS Genetic Test

Frequently Asked Questions

What is CYB5R3 Gene Methemoglobinemia Type 1?
It is a rare genetic disorder caused by mutations in the CYB5R3 gene, leading to reduced enzyme activity and methemoglobin buildup, impairing oxygen transport.
What are the symptoms of this condition?
Symptoms include blue or gray skin, lips, nails, rapid heartbeat, shortness of breath, fatigue, and dizziness.
How is it diagnosed?
Diagnosis involves clinical evaluation, blood tests for methemoglobin levels, and genetic testing like the NGS test to identify CYB5R3 mutations.
What is the NGS Genetic Test?
Next-Generation Sequencing (NGS) analyzes DNA to detect mutations in the CYB5R3 gene with high accuracy and sensitivity.
What is the cost of the test?
The cost at DNA Labs India is INR 20000, including home sample collection across India.
Is home sample collection available?
Yes, free home collection is offered for online bookings in numerous cities across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What sample is required?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Who should consider this test?
Individuals with symptoms of methemoglobinemia, family history, or those seeking genetic diagnosis for hereditary conditions.
What do the results mean?
Results indicate presence or absence of CYB5R3 mutations. Positive results confirm diagnosis; negative results may require further evaluation.
Is genetic counseling provided?
Yes, DNA Labs India offers genetic counseling to help interpret results and provide guidance for patients and families.
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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