GNAS Gene Pseudohypoparathyroidism Type 1B NGS Genetic DNA Test
Comprehensive Genetic Testing for Endocrine Disorders
The GNAS Gene Pseudohypoparathyroidism Type 1B NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for endocrine disorders. This advanced genetic analysis specifically targets mutations in the GNAS gene, which plays a crucial role in hormone signaling pathways throughout the body. Pseudohypoparathyroidism Type 1B is a rare genetic condition characterized by resistance to parathyroid hormone (PTH), leading to complex metabolic disturbances that require precise diagnosis and management.
What This Test Measures and Detects
Our comprehensive NGS-based genetic test examines the complete coding region of the GNAS gene to identify:
- Point mutations affecting GNAS gene function
- Small insertions and deletions disrupting protein structure
- Genetic variations causing impaired G-protein signaling
- Mutations leading to parathyroid hormone resistance
- Genetic markers associated with endocrine dysfunction
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with:
- Unexplained hypocalcemia with elevated parathyroid hormone levels
- Recurrent seizures or muscle cramps without clear cause
- Developmental delays or cognitive impairment
- Family history of pseudohypoparathyroidism or related endocrine disorders
- Resistance to multiple hormones beyond parathyroid hormone
- Early-onset bone abnormalities or dental issues
- Unexplained short stature in childhood
Key Benefits of Genetic Testing
Undergoing the GNAS Gene Pseudohypoparathyroidism Type 1B test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out pseudohypoparathyroidism with precision
- Personalized Treatment: Enables targeted therapy based on genetic findings
- Family Planning: Provides crucial information for genetic counseling
- Early Intervention: Facilitates timely management of complications
- Comprehensive Care: Guides multidisciplinary treatment approaches
- Peace of Mind: Reduces diagnostic uncertainty for patients and families
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your results:
- Positive Result: Indicates the presence of GNAS gene mutations associated with pseudohypoparathyroidism
- Negative Result: Suggests absence of known disease-causing mutations in the GNAS gene
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important information for family planning decisions
All results include detailed explanations and recommendations for next steps in consultation with your healthcare provider.
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | GNAS Gene Pseudohypoparathyroidism Type 1B 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 cities 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 accessible genetic testing for patients nationwide.
Take Control of Your Health Today
Don’t let uncertainty about genetic conditions affect your quality of life. Our GNAS Gene Pseudohypoparathyroidism Type 1B NGS Genetic DNA Test provides the clarity you need for proper diagnosis and treatment. With our advanced NGS technology and expert genetic analysis, you can make informed decisions about your healthcare journey.
Ready to schedule your genetic test? Call our dedicated healthcare team at +1(267) 388-9828 or book your appointment online today. Take the first step toward accurate diagnosis and personalized treatment for endocrine disorders.
