CYP11B2 Gene Hypoaldosteronism Congenital Due to CMO I Deficiency NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Metabolic Disorders
The CYP11B2 Gene Hypoaldosteronism Congenital Due to CMO I Deficiency NGS Genetic DNA Test represents a breakthrough in precision medicine for diagnosing rare adrenal disorders. This advanced genetic screening utilizes cutting-edge Next-Generation Sequencing technology to identify specific mutations in the CYP11B2 gene that cause congenital hypoaldosteronism type I, also known as corticosterone methyl oxidase deficiency.
What This Test Measures and Detects
This comprehensive genetic test specifically targets the CYP11B2 gene, which encodes the enzyme aldosterone synthase responsible for the final steps of aldosterone production. The test detects:
- Point mutations and single nucleotide variants in the CYP11B2 gene
- Insertions and deletions affecting gene function
- Missense, nonsense, and frameshift mutations
- Regulatory region variants impacting gene expression
- Compound heterozygous and homozygous mutations
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This test is recommended for individuals presenting with:
- Unexplained salt-wasting crises in infancy or childhood
- Persistent hyponatremia and hyperkalemia
- Failure to thrive despite adequate nutrition
- Family history of adrenal insufficiency
- Recurrent dehydration episodes without clear cause
- Developmental delays associated with electrolyte imbalances
- Previous inconclusive adrenal function tests
Benefits of Genetic Testing
Undergoing the CYP11B2 genetic test provides numerous advantages:
- Early Diagnosis: Enables prompt identification of congenital hypoaldosteronism
- Personalized Treatment: Guides targeted mineralocorticoid replacement therapy
- Family Planning: Provides crucial information for genetic counseling
- Preventive Care: Helps prevent life-threatening electrolyte crises
- Long-term Management: Supports comprehensive care planning
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your results:
- Positive Result: Indicates confirmed CYP11B2 gene mutation – requires immediate endocrinology consultation
- Negative Result: Suggests alternative causes for symptoms – further metabolic workup recommended
- Variant of Unknown Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important for reproductive planning and family screening
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have branches across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art genetic testing facilities ensure consistent, high-quality results regardless of location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about rare metabolic conditions affect your quality of life. Our CYP11B2 genetic test provides the clarity needed for proper diagnosis and management. With results available in 3-4 weeks and multiple sample collection options including blood, extracted DNA, or blood spots on FTA cards, 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 genetic counselors are available to discuss your family history and create a personalized testing plan.
