HSD11B2 Gene Apparent mineralocorticoid excess NGS Genetic Test
Short Name: HSD11B2 Gene AME NGS Test
Also known as: Apparent Mineralocorticoid Excess, AME
HSD11B2 Gene Apparent mineralocorticoid excess 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To detect mutations in the HSD11B2 gene for diagnosing Apparent Mineralocorticoid Excess.
- Test Code
- 4639
- 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)
Sample Collection
No specific preparation required. Genetic counseling session recommended.
Method: Venipuncture or FTA card collection
Laboratory Analysis
Blood sample will be collected via venipuncture or FTA card.
Report Delivery
Apply pressure to the puncture site. Sample will be sent to the lab for analysis.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To detect mutations in the HSD11B2 gene for diagnosing Apparent Mineralocorticoid Excess.
How to Prepare
- Ensure proper identification
- Use sterile equipment
- Label samples correctly
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for diagnosing rare genetic disorders affecting blood pressure regulation, especially in cases of unexplained hypertension and hypokalemia."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed samples
- Incorrect labeling
- Insufficient sample volume
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Apparent Mineralocorticoid Excess
No pathogenic variant detected
AME unlikely, but clinical correlation advised
If symptoms persist or if there is a family history of AME, consult a geneticist or endocrinologist.
Limitations
- ⚠May not detect all types of mutations
- ⚠Results require clinical correlation
- ⚠Genetic counseling recommended
Risks & Considerations
- ●Minimal risk from blood draw
- ●Psychological impact of results
Interfering Factors
- ●Sample degradation
- ●Contamination
- ●Insufficient DNA quantity
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| Comparison | HSD11B2 Gene Apparent mineralocorticoid excess NGS Genetic Test |
Frequently Asked Questions
What is Apparent Mineralocorticoid Excess?
What causes AME?
What are the symptoms of AME?
How is AME diagnosed?
What is the HSD11B2 Gene AME NGS Test?
How does NGS technology work?
What is the cost of the test?
Is home sample collection available?
How long does it take to get results?
What should I do if I test positive?
Can this test be used for family screening?
Is genetic counseling provided?
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