GHR Gene Laron Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Growth Hormone Resistance
The GHR Gene Laron Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic tool designed to identify mutations in the growth hormone receptor (GHR) gene, which are responsible for Laron syndrome. This rare genetic disorder affects the body’s ability to respond to growth hormone, leading to significant growth impairment and metabolic complications. Our advanced next-generation sequencing technology provides unparalleled accuracy in detecting even the most subtle genetic variations that contribute to this complex endocrine condition.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets the GHR gene located on chromosome 5p13-p12, examining all coding regions and splice sites for pathogenic variants. The test identifies:
- Point mutations affecting growth hormone binding
- Frameshift mutations disrupting receptor function
- Nonsense mutations leading to truncated proteins
- Splice site variants affecting mRNA processing
- Missense mutations altering receptor conformation
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with:
- Severe short stature disproportionate to family height patterns
- Characteristic facial features including prominent forehead and saddle nose
- High-pitched voice and delayed dental development
- Elevated growth hormone levels with low IGF-1 concentrations
- Family history of growth hormone resistance disorders
- Unexplained metabolic abnormalities and insulin sensitivity
- Children with failure to thrive despite adequate nutrition
Clinical Benefits of Genetic Testing
Undergoing the GHR Gene Laron Syndrome NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms Laron syndrome and differentiates from other growth disorders
- Treatment Guidance: Informs appropriate therapeutic interventions including IGF-1 replacement therapy
- Genetic Counseling: Provides essential information for family planning and recurrence risk assessment
- Early Intervention: Enables timely management to optimize growth potential
- Comprehensive Care: Facilitates multidisciplinary approach involving endocrinologists, geneticists, and nutritionists
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and medical geneticists. Positive results indicating pathogenic GHR gene mutations confirm the diagnosis of Laron syndrome and provide specific information about the mutation type and its functional consequences. Negative results help exclude this specific genetic cause, guiding further diagnostic evaluation. All results include detailed explanations of clinical significance, inheritance patterns, and recommendations for ongoing management and surveillance.
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| GHR Gene Laron Syndrome NGS Genetic DNA Test | $500 USD | $700 USD |
Nationwide Testing Accessibility
We proudly offer comprehensive genetic testing services 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, and San Jose. Our network of certified collection centers ensures accessible testing for patients nationwide, supported by our expert genetic counseling team available for pre-test and post-test consultations.
Take Control of Your Genetic Health
Don’t let uncertainty about growth and endocrine disorders affect your quality of life. Our GHR Gene Laron Syndrome NGS Genetic DNA Test provides the definitive answers you need for informed medical decisions and personalized treatment planning. 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.
Ready to begin your genetic testing journey? Call our dedicated genetic specialists today at +1(267) 388-9828 or schedule your appointment online. Take the first step toward understanding your genetic health and optimizing your medical care.
