MC2R Gene Glucocorticoid Deficiency Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Adrenal Insufficiency
The MC2R Gene Glucocorticoid Deficiency Type 1 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare metabolic disorders. This advanced genetic analysis specifically targets mutations in the melanocortin 2 receptor (MC2R) gene, which plays a critical role in adrenal gland function and cortisol production. Glucocorticoid deficiency type 1 is an autosomal recessive condition that can lead to life-threatening adrenal crises if left undiagnosed.
What This Test Measures and Detects
Our NGS-based genetic test comprehensively analyzes the MC2R gene to identify:
- Point mutations affecting adrenocorticotropic hormone (ACTH) receptor function
- Frameshift mutations disrupting protein structure
- Nonsense mutations leading to premature stop codons
- Missense mutations affecting receptor binding capacity
- Deletions and insertions within the coding regions
The test utilizes cutting-edge next-generation sequencing technology to provide high-resolution analysis of the entire MC2R gene, ensuring comprehensive mutation detection with exceptional accuracy.
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with:
- Unexplained fatigue and weakness despite adequate rest
- Recurrent episodes of hypoglycemia, especially in children
- Unexpected weight loss and poor growth in pediatric patients
- Hyperpigmentation of skin and mucous membranes
- Family history of adrenal insufficiency or sudden infant death
- Resistance to ACTH stimulation testing
- Suspected autoimmune polyglandular syndromes
- Unexplained electrolyte imbalances
Clinical Benefits of Genetic Testing
Undergoing the MC2R Gene Glucocorticoid Deficiency Type 1 test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out genetic causes of adrenal insufficiency
- Personalized Treatment: Enables targeted glucocorticoid replacement therapy
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates proactive management before adrenal crises occur
- Differential Diagnosis: Helps distinguish between various forms of adrenal insufficiency
- Prognostic Information: Offers insights into disease progression and management needs
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Identifies pathogenic mutations confirming glucocorticoid deficiency type 1 diagnosis
- Negative Result: No MC2R mutations detected, suggesting alternative causes for symptoms
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Identifies individuals with single mutation copies who may pass the condition to offspring
All results include detailed explanations and recommendations for follow-up care with your healthcare provider.
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| MC2R Gene Glucocorticoid Deficiency Type 1 NGS Genetic DNA Test – Discount Price | $500 |
| MC2R Gene Glucocorticoid Deficiency Type 1 NGS Genetic DNA Test – Regular Price | $700 |
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, and many more. Our network of certified genetic testing facilities ensures consistent quality and reliable results nationwide.
Take Control of Your Health Today
Don’t let uncertainty about adrenal function compromise your health and quality of life. Our MC2R Gene Glucocorticoid Deficiency Type 1 NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and management. With our special discounted price of only $500, advanced genetic testing has never been more accessible.
Call us now at +1(267) 388-9828 to schedule your genetic consultation and testing appointment. Our genetic specialists are ready to guide you through the testing process and help you understand your results.
Turnaround Time: 3-4 Weeks | Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
