HRAS Gene Costello Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Costello Syndrome
The HRAS Gene Costello Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the HRAS gene that cause Costello syndrome. This rare genetic disorder affects multiple body systems and requires precise genetic confirmation for accurate diagnosis and management. Our advanced next-generation sequencing technology provides comprehensive analysis of the HRAS gene, delivering reliable results that guide clinical decision-making and family planning.
What This Test Measures and Detects
This specialized genetic test utilizes next-generation sequencing (NGS) technology to thoroughly examine the HRAS gene for pathogenic variants associated with Costello syndrome. The test specifically identifies:
- Point mutations in the HRAS gene coding regions
- Missense mutations affecting protein function
- Specific nucleotide changes known to cause Costello syndrome
- Genetic variants that impact the RAS/MAPK signaling pathway
The HRAS gene encodes a protein involved in cell growth and division regulation. Mutations in this gene lead to continuous activation of the RAS/MAPK pathway, resulting in the characteristic features of Costello syndrome.
Who Should Consider This Test
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with the following clinical features:
- Infants and children with developmental delays and intellectual disability
- Individuals with distinctive facial features including coarse facial features, full lips, and large mouth
- Patients with cardiac abnormalities such as hypertrophic cardiomyopathy or arrhythmias
- Children experiencing failure to thrive or growth retardation
- Individuals with skin abnormalities including loose skin on hands and feet
- Patients with musculoskeletal issues and joint laxity
- Those with a family history suggestive of Costello syndrome
Benefits of HRAS Gene Testing
Undergoing the HRAS Gene Costello Syndrome NGS Genetic DNA Test provides numerous advantages:
- Definitive Diagnosis: Confirms or rules out Costello syndrome with high accuracy
- Early Intervention: Enables timely medical management and therapeutic interventions
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Care: Guides targeted monitoring for cardiac, developmental, and oncological risks
- Prognostic Information: Helps predict potential complications and disease progression
- Research Contribution: Advances understanding of RASopathies and related disorders
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your HRAS gene analysis:
- Positive Result: Indicates the presence of a pathogenic HRAS mutation consistent with Costello syndrome diagnosis
- Negative Result: Suggests that HRAS mutations were not detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation
- Carrier Status: Provides information about inheritance patterns for family members
All results include detailed explanations and recommendations for follow-up care. Our genetic counselors are available to help you understand your results and discuss next steps.
Test Information and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | HRAS Gene Costello Syndrome 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 |
| Testing Method | Next-Generation Sequencing (NGS) |
| Specialty | Pediatrics |
| Department | Genetics |
| Disease Type | Dysmorphology |
Pre-Test Requirements
Before scheduling your HRAS Gene Costello Syndrome NGS Genetic DNA Test, please ensure:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to create a detailed family pedigree chart
- Documentation of family members affected by HRAS-related conditions
- Review of previous genetic testing and medical evaluations
Nationwide Testing Availability
We proudly offer the HRAS Gene Costello Syndrome NGS Genetic DNA Test across our extensive network of testing facilities throughout the United States. Our state-of-the-art laboratories serve patients in major metropolitan areas including:
- New York City and surrounding regions
- Los Angeles and Southern California
- Chicago and the Midwest
- Houston and Texas metropolitan areas
- Miami and Florida locations
- Seattle and Pacific Northwest centers
- Boston and New England facilities
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. The HRAS Gene Costello Syndrome NGS Genetic DNA Test provides the answers you need for informed healthcare decisions. Our experienced genetic specialists and advanced testing technology ensure accurate, reliable results you can trust.
Ready to schedule your test? Contact us today at +1(267) 388-9828 or book your appointment online. Our genetic counselors are available to answer your questions and guide you through the testing process.
Take control of your genetic health with comprehensive HRAS gene testing. Early diagnosis leads to better outcomes and personalized care strategies for individuals with Costello syndrome.
