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CYP11B2 Gene Hypoaldosteronism, congenital, due to CMO II deficiency NGS Genetic Test

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CYP11B2 Gene Hypoaldosteronism, congenital, due to CMO II deficiency NGS Genetic Test

Short Name: CYP11B2 Hypoaldosteronism Genetic Test

Also known as: CYP11B2 deficiency, CMO II deficiency, Congenital hypoaldosteronism

CYP11B2 Gene Hypoaldosteronism, congenital, due to CMO II deficiency 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 Reports available in 3 to 4 weeks after sample collection.. 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 detect mutations in the CYP11B2 gene for diagnosis of congenital hypoaldosteronism due to CMO II deficiency, enabling accurate management and genetic counseling.

Test Code
2103
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports available in 3 to 4 weeks after sample collection.
Fasting Required
No
Method
NGS (Next-Generation Sequencing)
Step 1

Sample Collection

Genetic counseling session recommended to discuss family history and test implications.

Method: Venipuncture or FTA card application

Step 2

Laboratory Analysis

Standard blood draw procedure or FTA card application for sample collection.

Step 3

Report Delivery

Apply pressure to puncture site to prevent bruising; keep the sample at ambient room temperature.

Timeline: Reports available in 3 to 4 weeks after sample collection.

Patient Instructions

1
Before the Test:Inform your doctor about any medications, medical history, and family history of genetic disorders.
2
During the Test:Blood sample collection is a standard procedure with minimal discomfort.
3
After the Test:No special post-test care; monitor for any minor side effects like bruising.

About This Test

Who Should Get This Test

To detect mutations in the CYP11B2 gene for diagnosis of congenital hypoaldosteronism due to CMO II deficiency, enabling accurate management and genetic counseling.

How to Prepare

  • Ensure sample is collected in appropriate container
  • Label sample correctly with patient details
  • Transport sample at ambient temperature

Doctor's Notes

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

"Early genetic diagnosis of congenital hypoaldosteronism is crucial for timely management and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 mL blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card application

Sample Stability

Blood samples stable for 24 hours at room temperature
FTA cards stable for extended periods when stored properly
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient volume
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of mutations in the CYP11B2 gene associated with congenital hypoaldosteronism.
Normal: No pathogenic variants detected, indicating low likelihood of CMO II deficiency.
Abnormal: Pathogenic variant detected, confirming diagnosis of congenital hypoaldosteronism due to CMO II deficiency.
⚠️ When to Consult a Doctor:

If symptoms persist or worsen, or if genetic test results are abnormal, consult an endocrinologist or geneticist for further management.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●No significant risks associated with the genetic test itself

Interfering Factors

  • ●Sample contamination
  • ●Improper storage conditions
  • ●Previous blood transfusions

Compare With Similar Tests

TestCYP11B2 Gene Hypoaldosteronism, congenital, due to CMO II deficiency NGS Genetic TestSerum Aldosterone TestPlasma Renin Activity TestCYP11B1 Gene Test
ComparisonCYP11B2 Gene Hypoaldosteronism, congenital, due to CMO II deficiency NGS Genetic Test

Frequently Asked Questions

What is CYP11B2 Gene Hypoaldosteronism?
It is a rare genetic disorder caused by mutations in the CYP11B2 gene, leading to deficiency in the CMO II enzyme and reduced aldosterone production.
What are the common symptoms of this condition?
Symptoms include low blood pressure, muscle weakness, dehydration, abnormal heart rhythms, fatigue, headaches, and nausea.
How is CYP11B2 Gene Hypoaldosteronism diagnosed?
Diagnosis involves clinical evaluation, blood tests for aldosterone and renin levels, and genetic testing to detect mutations in the CYP11B2 gene.
What does the NGS Genetic Test entail?
The NGS Genetic Test uses Next-Generation Sequencing technology to analyze the entire CYP11B2 gene for mutations, providing comprehensive and accurate results.
What is the cost of this genetic test?
The cost is INR 20,000, and it includes home sample collection and genetic counseling.
Is this test covered by insurance?
Yes, most insurance plans cover this genetic test. It is advisable to check with your insurance provider for specific details.
How long does it take to receive the test results?
Results are typically available in 3 to 4 weeks after sample collection.
What sample is required for the test?
A blood sample or extracted DNA or one drop of blood on an FTA card is required.
Is home sample collection available?
Yes, free home sample collection is available in numerous cities across India for online bookings.
What is the treatment for congenital hypoaldosteronism?
Treatment may include hormone replacement therapy, such as fludrocortisone, and dietary adjustments to manage symptoms.
Can this condition be inherited?
Yes, it is an autosomal recessive genetic disorder, meaning it can be passed from parents to children if both carry the mutated gene.
Who should consider getting tested for CYP11B2 mutations?
Individuals with symptoms of hypoaldosteronism, a family history of the condition, or those undergoing genetic counseling should consider this test.
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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