GNAS Gene Pseudohypoparathyroidism Type 1A NGS Genetic DNA Test
Comprehensive Genetic Testing for Endocrine Disorders
The GNAS Gene Pseudohypoparathyroidism Type 1A NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare endocrine conditions. This advanced genetic analysis provides definitive answers for individuals and families affected by complex hormonal disorders, offering clarity where traditional diagnostic methods may fall short.
What This Test Measures and Detects
This sophisticated genetic test specifically targets mutations in the GNAS gene, which encodes the alpha subunit of stimulatory G proteins. These proteins play a critical role in hormone signaling pathways throughout the body. The test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the entire GNAS gene, identifying:
- Point mutations affecting protein function
- Small insertions and deletions
- Regulatory region variations
- Maternal imprinting patterns
- Specific mutations associated with hormone resistance
Who Should Consider This Test
This genetic test is particularly recommended for individuals presenting with:
- Resistance to parathyroid hormone with hypocalcemia and hyperphosphatemia
- Short stature and round facies
- Developmental delays or intellectual disability
- Obesity with particular body habitus
- Subcutaneous ossifications or bone abnormalities
- Family history of similar endocrine disorders
- Multiple hormone resistance patterns
- Albright’s hereditary osteodystrophy features
Clinical Benefits and Importance
Undergoing the GNAS Gene Pseudohypoparathyroidism Type 1A test provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out Pseudohypoparathyroidism type 1A with high accuracy
- Personalized Treatment: Enables targeted therapeutic interventions based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates proactive management of potential complications
- Differential Diagnosis: Helps distinguish between various forms of hormone resistance
- Prognostic Information: Offers insights into disease progression and management needs
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results effectively:
- Positive Result: Indicates the presence of GNAS gene mutations associated with Pseudohypoparathyroidism type 1A, requiring specialized endocrine care
- Negative Result: Suggests alternative diagnoses should be considered for similar clinical presentations
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important information for family members and future generations
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | GNAS Gene Pseudohypoparathyroidism Type 1A NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
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 collection centers ensures accessibility for patients nationwide.
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation
- Genetic counseling session prior to testing
- Development of detailed family pedigree chart
- Discussion of testing implications with healthcare provider
Take Control of Your Genetic Health Today
Don’t let uncertainty about your endocrine health continue. Our advanced GNAS gene testing provides the answers you need for proper diagnosis and management. With our discounted price of $500 USD and comprehensive genetic counseling support, you can make informed decisions about your health journey.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward clarity and personalized care.
