GORAB Gene Geroderma Osteodysplasticum NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Connective Tissue Disorders
The GORAB Gene Geroderma Osteodysplasticum NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare genetic disorders affecting multiple body systems. This specialized genetic analysis utilizes cutting-edge Next-Generation Sequencing (NGS) technology to identify mutations in the GORAB gene, which plays a critical role in maintaining structural integrity of connective tissues throughout the body.
What Does This Test Measure and Detect?
This comprehensive genetic test specifically targets the GORAB gene (SCYL1BP1), which encodes a protein essential for proper Golgi apparatus function and intracellular trafficking. The test detects:
- Pathogenic variants in the GORAB gene associated with Geroderma Osteodysplasticum
- Single nucleotide polymorphisms (SNPs) affecting protein function
- Insertion and deletion mutations disrupting gene expression
- Compound heterozygous mutations in autosomal recessive inheritance patterns
- Novel variants with potential clinical significance
Who Should Consider This Genetic Test?
This specialized genetic analysis is recommended for individuals presenting with the following clinical features:
- Premature Aging Skin Changes: Lax, wrinkled skin appearing older than chronological age
- Skeletal Abnormalities: Osteoporosis, joint hypermobility, or bone fragility
- Growth Retardation: Short stature and delayed physical development
- Facial Characteristics: Progeroid facial features and dental abnormalities
- Family History: Known cases of Geroderma Osteodysplasticum in relatives
- Undiagnosed Connective Tissue Disorders: Patients with unexplained skin and bone abnormalities
Clinical Benefits of GORAB Gene Testing
Undergoing this genetic test provides numerous clinical advantages for patients and healthcare providers:
- Definitive Diagnosis: Confirms or rules out Geroderma Osteodysplasticum with high accuracy
- Personalized Treatment Planning: Enables targeted management strategies for skin and bone complications
- Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates proactive management of potential complications
- Differential Diagnosis: Helps distinguish from other progeroid syndromes and connective tissue disorders
- Research Contribution: Advances understanding of rare genetic conditions
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results with clinical context:
- Positive Result: Indicates pathogenic mutations in the GORAB gene confirming diagnosis
- Negative Result: No disease-causing variants detected, though clinical correlation is essential
- Variant of Uncertain Significance (VUS): Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with single mutation copies for family planning purposes
All results are accompanied by detailed genetic counseling recommendations and clinical management guidelines tailored to your specific findings.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | GORAB Gene Geroderma Osteodysplasticum NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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) Technology |
Pre-Test Requirements and Preparation
To ensure accurate results and comprehensive genetic analysis, we require:
- Complete clinical history of the patient
- Genetic counseling session to create detailed family pedigree
- Documentation of affected family members
- Informed consent for genetic testing
- Insurance pre-authorization when applicable
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 genetic counselors and healthcare professionals ensures accessible, high-quality genetic testing services nationwide.
Take Control of Your Genetic Health Today
Early genetic diagnosis can significantly impact treatment outcomes and quality of life for individuals with Geroderma Osteodysplasticum. Our comprehensive testing approach combines advanced technology with expert genetic counseling to provide you with the answers you need for informed healthcare decisions.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
