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CYP11B2 Gene Hypoaldosteronism congenital due to CMO I deficiency NGS Genetic Test

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CYP11B2 Gene Hypoaldosteronism congenital due to CMO I deficiency NGS Genetic Test

Short Name: CYP11B2 Genetic Test

Also known as: CMO I deficiency, Aldosterone synthase deficiency type I, Congenital hypoaldosteronism

CYP11B2 Gene Hypoaldosteronism congenital due to CMO I deficiency 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 3-4 weeks after sample receipt. 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 identify genetic mutations in the CYP11B2 gene responsible for congenital hypoaldosteronism due to CMO I deficiency, enabling accurate diagnosis and management.

Test Code
2114
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3-4 weeks after sample receipt
Fasting Required
Yes
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Genetic counseling is recommended. Provide detailed clinical history and family pedigree.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

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

Step 3

Report Delivery

The sample is sent to the laboratory for DNA extraction and sequencing.

Timeline: 3-4 weeks after sample receipt

Patient Instructions

1
Before the Test:Consult with a genetic counselor or specialist to understand the test implications.
2
During the Test:The test involves a simple blood draw or finger prick.
3
After the Test:Results will be available in 3-4 weeks; discuss with your doctor for management.

About This Test

Who Should Get This Test

To identify genetic mutations in the CYP11B2 gene responsible for congenital hypoaldosteronism due to CMO I deficiency, enabling accurate diagnosis and management.

How to Prepare

  • Fast if instructed
  • Bring doctor's prescription and ID
  • Inform about any medications or supplements

Doctor's Notes

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

"Early genetic testing for CYP11B2 mutations is crucial for managing congenital hypoaldosteronism and preventing complications, especially in families with a history of adrenal disorders."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 ml blood or equivalent DNA
ContainerEDTA tube for blood, FTA card for one drop blood
Collection MethodVenipuncture or finger prick

Sample Stability

Blood: stable for 24 hours at room temperature
Extracted DNA: stable for months at -20°C
Sample Rejection Criteria:
  • Hemolyzed or lipemic samples
  • Insufficient sample volume
  • Mislabeled samples

Understanding Your Results

Results are interpreted based on the presence of mutations in the CYP11B2 gene. A positive result indicates pathogenic variants associated with hypoaldosteronism.
Positive: Pathogenic variant detected – confirms diagnosis
Negative: No pathogenic variants – condition unlikely but not excluded
Variant of uncertain significance – requires further evaluation
⚠️ When to Consult a Doctor:

If you experience symptoms such as dehydration, low blood pressure, or if there is a family history of hypoaldosteronism.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Genetic variants of uncertain significance may be identified
  • ⚠Does not replace clinical evaluation

Risks & Considerations

  • ●Minor bruising at blood draw site
  • ●Infection risk (very low)
  • ●Discomfort during sample collection

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Improper sample handling

Compare With Similar Tests

TestCYP11B2 Gene Hypoaldosteronism congenital due to CMO I deficiency NGS Genetic Test
ComparisonCYP11B2 Gene Hypoaldosteronism congenital due to CMO I deficiency NGS Genetic Test

Frequently Asked Questions

What is CYP11B2 gene hypoaldosteronism congenital due to CMO I deficiency?
It is a rare genetic disorder caused by mutations in the CYP11B2 gene, leading to aldosterone synthase deficiency and hypoaldosteronism.
What are the common symptoms of this condition?
Symptoms include dehydration, low blood pressure, electrolyte imbalances, weakness, fatigue, poor growth in infants, frequent urination, increased thirst, abnormal heart rhythms, and low blood sugar.
How is this condition diagnosed?
Diagnosis is confirmed through NGS genetic testing of the CYP11B2 gene, which detects mutations associated with the disorder.
What is the cost of the CYP11B2 genetic test at DNA Labs India?
The test costs INR 20,000, and free home sample collection is available across India.
How long does it take to get the test results?
Results are typically available within 3-4 weeks after sample receipt.
Is home collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
Do I need to fast before the test?
Yes, fasting may be required as per pre-test instructions. Please follow the guidelines provided.
What does a positive test result mean?
A positive result indicates the presence of pathogenic mutations in the CYP11B2 gene, confirming the diagnosis of congenital hypoaldosteronism.
Can children undergo this genetic test?
Yes, the test can be performed on individuals of all ages, including infants and children.
Is genetic counseling recommended before the test?
Yes, genetic counseling is advised to understand the implications, interpret results, and plan management.
What are the treatment options for this condition?
Treatment involves aldosterone replacement therapy (e.g., fludrocortisone), increased fluid and salt intake, and monitoring for complications.
How accurate is the NGS genetic test for this condition?
NGS is a highly accurate method for detecting genetic mutations, but accuracy depends on sample quality and laboratory standards.
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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