RNF216 Gene Gordon Holmes Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Gordon Holmes Syndrome
The RNF216 Gene Gordon Holmes Syndrome NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations associated with this rare hereditary condition. Gordon Holmes syndrome is characterized by the co-occurrence of progressive cerebellar ataxia and hypogonadotropic hypogonadism, creating complex clinical challenges for affected individuals and their families.
What This Advanced Genetic Test Measures
This sophisticated diagnostic examination utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the RNF216 gene for pathogenic variants. The test specifically identifies:
- Point mutations, deletions, and insertions in the RNF216 gene
- Autosomal recessive inheritance patterns
- Variants affecting ubiquitin ligase function
- Genetic markers associated with progressive neurological deterioration
- Mutations linked to hormonal regulation abnormalities
Who Should Consider This Genetic Test
This specialized genetic analysis is recommended for individuals presenting with:
- Progressive coordination difficulties and balance problems
- Delayed or absent puberty development
- Family history of cerebellar ataxia or hypogonadism
- Unexplained neurological symptoms in childhood or early adulthood
- Suspected hereditary neurological disorders
- Consanguineous family backgrounds with neurological conditions
Significant Benefits of Genetic Testing
Undergoing the RNF216 Gene Gordon Holmes Syndrome test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Gordon Holmes syndrome with high precision
- Treatment Guidance: Informs appropriate therapeutic interventions and management strategies
- Family Planning: Provides crucial information for reproductive decisions and genetic counseling
- Prognostic Insights: Helps predict disease progression and potential complications
- Early Intervention: Enables timely management of both neurological and endocrine manifestations
- Psychological Relief: Reduces diagnostic uncertainty and provides clarity for patients and families
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results effectively:
- Positive Result: Indicates the presence of pathogenic RNF216 mutations, confirming Gordon Holmes syndrome diagnosis
- Negative Result: Suggests absence of detectable mutations, though clinical follow-up may still be necessary
- Variant of Uncertain Significance: Identifies genetic changes requiring additional clinical correlation
- Carrier Status: Determines if you carry one copy of a mutated gene without showing symptoms
All results are accompanied by detailed explanations and recommendations from our certified genetic counselors.
Test Pricing and Availability
| Test Description | Price (USD) |
|---|---|
| RNF216 Gene Gordon Holmes Syndrome NGS Genetic DNA Test – Discount Price | $500 |
| RNF216 Gene Gordon Holmes Syndrome NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Accessibility
We maintain comprehensive testing facilities across the United States, with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, high-quality testing standards nationwide.
Pre-Test Preparation Requirements
To ensure optimal testing accuracy, please provide:
- Complete clinical history of the patient
- Genetic counseling session documentation
- Detailed pedigree chart of affected family members
- Relevant neurological and endocrine evaluation reports
Sample Collection and Processing
We accept multiple sample types for your convenience:
- Blood samples collected by certified phlebotomists
- Extracted DNA from qualified laboratories
- One drop of blood on FTA card for simplified collection
Turnaround time for results is typically 3 to 4 weeks from sample receipt.
Take Control of Your Neurological Health Today
Don’t let uncertainty about hereditary neurological conditions affect your quality of life. Our RNF216 Gene Gordon Holmes Syndrome NGS Genetic DNA Test provides the clarity and answers you need for informed healthcare decisions. With our special discounted price of $500 USD (regularly $700 USD), advanced genetic testing is more accessible than ever.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your genetic testing appointment or to speak with our genetic counseling specialists. Take the first step toward understanding your genetic health and securing your neurological future.
