HSD11B2 Gene Apparent Mineralocorticoid Excess NGS Genetic DNA Test
Comprehensive Genetic Analysis for Metabolic Disorders
The HSD11B2 Gene Apparent Mineralocorticoid Excess NGS Genetic DNA Test represents a breakthrough in diagnostic precision for patients suffering from unexplained hypertension and electrolyte disturbances. This advanced genetic test utilizes next-generation sequencing technology to identify mutations in the HSD11B2 gene, which encodes the enzyme 11β-hydroxysteroid dehydrogenase type 2. This enzyme plays a crucial role in cortisol metabolism, and its deficiency leads to apparent mineralocorticoid excess syndrome—a rare but serious metabolic disorder that can cause severe health complications if left undiagnosed.
What This Test Measures and Detects
Our comprehensive genetic analysis specifically targets the HSD11B2 gene to identify pathogenic variants that disrupt normal enzyme function. The test detects:
- Point mutations affecting enzyme activity
- Frameshift mutations leading to premature protein termination
- Missense mutations altering enzyme structure and function
- Deletions and insertions affecting gene integrity
- Compound heterozygous mutations in familial cases
Clinical Significance of HSD11B2 Gene Mutations
The HSD11B2 gene is essential for converting cortisol to cortisone in mineralocorticoid target tissues. When mutations impair this conversion, cortisol accumulates and activates mineralocorticoid receptors, leading to sodium retention, potassium wasting, and severe hypertension. Early detection through genetic testing allows for targeted therapeutic interventions that can significantly improve patient outcomes.
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with:
- Severe, early-onset hypertension resistant to conventional treatment
- Persistent hypokalemia (low potassium levels) without apparent cause
- Metabolic alkalosis with unexplained electrolyte imbalances
- Family history of similar metabolic disorders or unexplained hypertension
- Children or adolescents with treatment-resistant high blood pressure
- Patients with suppressed plasma renin activity and normal aldosterone levels
- Individuals with growth retardation and delayed puberty associated with hypertension
Clinical Presentation Patterns
Patients with apparent mineralocorticoid excess typically exhibit characteristic clinical features including polyuria, polydipsia, muscle weakness, fatigue, and sometimes growth impairment in pediatric cases. The condition often manifests in childhood but can present at any age, making genetic testing crucial for accurate diagnosis across all age groups.
Benefits of Genetic Testing for Apparent Mineralocorticoid Excess
Undergoing the HSD11B2 genetic test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms the genetic basis of symptoms, eliminating diagnostic uncertainty
- Targeted Treatment: Enables specific therapeutic approaches including mineralocorticoid receptor antagonists
- Family Planning: Provides crucial information for genetic counseling and family risk assessment
- Prevention of Complications: Early intervention prevents end-organ damage from chronic hypertension
- Personalized Management: Guides long-term monitoring and management strategies
- Cost-Effective Care: Reduces unnecessary diagnostic procedures and inappropriate treatments
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information:
Positive Result Interpretation
A positive result indicates the presence of pathogenic mutations in the HSD11B2 gene, confirming the diagnosis of apparent mineralocorticoid excess. This finding enables your healthcare provider to implement targeted treatment strategies, including specific medications that block mineralocorticoid receptors and dietary modifications to manage electrolyte balance.
Negative Result Interpretation
A negative result suggests that HSD11B2 gene mutations are not responsible for your symptoms. This valuable information helps direct further diagnostic evaluation toward other potential causes of hypertension and electrolyte disturbances, ensuring comprehensive medical care.
Variant of Uncertain Significance
In some cases, the test may identify genetic variants with unclear clinical significance. Our genetic counseling team provides expert guidance on interpreting these findings and recommends appropriate follow-up testing or monitoring strategies.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Methodology: Next-Generation Sequencing (NGS) Technology
- Specialty: General Physician, Genetics
- Department: Genetics
- Disease Type: Metabolic Disorders
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Review of current medications and medical conditions
- Discussion of testing implications and potential outcomes
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and many more. Our network of certified collection centers ensures accessible testing regardless of your location.
Take Control of Your Health Today
Don’t let unexplained symptoms compromise your quality of life. The HSD11B2 Gene Apparent Mineralocorticoid Excess NGS Genetic DNA Test provides the clarity needed for effective treatment and long-term health management. Our expert genetic counselors and medical professionals are ready to guide you through the testing process and help interpret your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward accurate diagnosis and personalized treatment.
Early genetic testing can transform your healthcare journey, providing answers where uncertainty once prevailed. Trust our experienced team to deliver comprehensive genetic insights with the precision and care you deserve.
