GNAS Gene Pseudohypoparathyroidism Type 1C NGS Genetic DNA Test
Comprehensive Genetic Analysis for Hormone Resistance Disorders
The GNAS Gene Pseudohypoparathyroidism Type 1C NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying inherited endocrine disorders characterized by hormone resistance. This sophisticated genetic analysis specifically targets mutations in the GNAS gene, which plays a critical role in cellular signaling pathways affecting multiple hormone systems throughout the body.
What Does This Test Measure and Detect?
This advanced genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the GNAS gene for pathogenic variants associated with Pseudohypoparathyroidism Type 1C. The test specifically detects:
- Point mutations and small insertions/deletions in the GNAS gene
- Genetic variations affecting G-protein coupled receptor signaling
- Mutations causing resistance to parathyroid hormone (PTH)
- Variants impacting multiple hormone signaling pathways
- Inherited genetic changes affecting calcium and phosphate metabolism
Who Should Consider This Genetic Test?
This specialized genetic testing is recommended for individuals presenting with clinical symptoms suggestive of Pseudohypoparathyroidism or related endocrine disorders:
- Patients with unexplained hypocalcemia (low blood calcium levels)
- Individuals experiencing recurrent seizures or muscle cramps
- Those with developmental delays or intellectual disabilities
- Patients showing resistance to multiple hormones
- Individuals with short stature and skeletal abnormalities
- Patients with family history of endocrine disorders
- Children with Albright’s hereditary osteodystrophy features
- Individuals with subcutaneous ossifications or round facies
Key Benefits of Genetic Testing
Undergoing the GNAS Gene Pseudohypoparathyroidism Type 1C NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Provides definitive genetic confirmation of Pseudohypoparathyroidism Type 1C
- Personalized Treatment: Enables targeted management strategies for calcium and phosphate disorders
- Genetic Counseling: Supports informed family planning decisions and risk assessment
- Early Intervention: Facilitates timely treatment to prevent complications
- Comprehensive Analysis: NGS technology ensures thorough genetic evaluation
- Clinical Correlation: Helps understand the relationship between genetic findings and symptoms
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and endocrinologists:
- Positive Result: Indicates the presence of pathogenic GNAS gene mutations confirming Pseudohypoparathyroidism Type 1C diagnosis
- Negative Result: Suggests absence of detectable GNAS mutations, though clinical correlation remains essential
- Variant of Uncertain Significance: Some genetic changes may require additional family studies for interpretation
- Carrier Status: Identifies individuals who may pass genetic variants to offspring
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps for medical management.
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| GNAS Gene Pseudohypoparathyroidism Type 1C NGS Genetic DNA Test – Discount Price | $500 |
| GNAS Gene Pseudohypoparathyroidism Type 1C NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee.
Book Your Genetic Test Today
Take the first step toward understanding your genetic health. Our experienced genetic counselors and endocrinology specialists are ready to guide you through the testing process and help interpret your results. Contact us today to schedule your appointment and begin your journey toward personalized medical care.
Call or WhatsApp: +1(267) 388-9828 to book your GNAS Gene Pseudohypoparathyroidism Type 1C NGS Genetic DNA Test and receive expert genetic counseling.
