CYP11B2 Gene Hypoaldosteronism Congenital Due to CMO II Deficiency NGS Genetic DNA Test
Comprehensive Genetic Testing for Congenital Hypoaldosteronism
The CYP11B2 Gene Hypoaldosteronism Congenital Due to CMO II Deficiency NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for metabolic disorders. This advanced test specifically targets mutations in the CYP11B2 gene, which encodes the enzyme aldosterone synthase crucial for proper mineralocorticoid production. Congenital hypoaldosteronism due to CMO II deficiency is a rare autosomal recessive disorder that significantly impacts electrolyte balance and overall metabolic health.
What This Test Measures and Detects
Our sophisticated NGS (Next-Generation Sequencing) technology comprehensively analyzes the CYP11B2 gene to identify:
- Point mutations and single nucleotide variants affecting aldosterone synthase function
- Insertions and deletions that disrupt normal gene expression
- Splice site mutations impacting protein synthesis
- Compound heterozygous mutations causing CMO II deficiency
- Specific genetic markers associated with congenital hypoaldosteronism
The test provides detailed genetic profiling that helps clinicians understand the molecular basis of aldosterone deficiency and its clinical manifestations.
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with:
- Persistent salt-wasting symptoms in infancy or childhood
- Unexplained dehydration and electrolyte imbalances
- Failure to thrive despite adequate nutrition
- Recurrent hypotension and orthostatic symptoms
- Family history of congenital hypoaldosteronism
- Hyperkalemia with normal glomerular filtration rate
- Metabolic acidosis of unknown origin
- Suspected mineralocorticoid deficiency syndromes
Clinical Benefits of Genetic Testing
Undergoing the CYP11B2 genetic test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out congenital hypoaldosteronism with high precision
- Personalized Treatment: Enables targeted mineralocorticoid replacement therapy
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates prompt management to prevent complications
- Prognostic Information: Helps predict disease progression and long-term outcomes
- Differential Diagnosis: Distinguishes CMO II deficiency from other forms of hypoaldosteronism
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Identifies pathogenic mutations confirming CMO II deficiency diagnosis
- Negative Result: No disease-causing mutations detected in the CYP11B2 gene
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if you carry one copy of a mutated gene
All results are accompanied by detailed clinical correlations and management recommendations from our expert genetic counselors.
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our state-of-the-art laboratories ensure consistent, reliable results regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about congenital hypoaldosteronism affect your health decisions. Our CYP11B2 genetic test provides the definitive answers you need for proper diagnosis and management. With a turnaround time of 3-4 weeks and sample collection options including blood, extracted DNA, or one drop of blood on FTA card, getting tested has never been more convenient.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our expert team is ready to guide you through the testing process and help you understand your genetic health.
Remember to bring your clinical history and be prepared for a genetic counseling session to create a detailed family pedigree chart. Early genetic testing can make a significant difference in managing congenital hypoaldosteronism effectively.
