RFT1 Gene Glycosylation Disorder Type 1N NGS Genetic DNA Test
Comprehensive Genetic Analysis for Metabolic Disorders
The RFT1 Gene Glycosylation Disorder Type 1N NGS Genetic DNA Test represents a breakthrough in metabolic disorder diagnostics, offering precise detection of genetic mutations associated with congenital disorders of glycosylation. This advanced testing methodology provides critical insights for patients and healthcare providers managing complex metabolic conditions.
What is Glycosylation Disorder Type 1N?
Glycosylation disorders are rare inherited metabolic conditions characterized by impaired protein glycosylation – the process of adding sugar molecules to proteins. Type 1N specifically involves mutations in the RFT1 gene, which plays a crucial role in the dolichol-linked oligosaccharide pathway essential for proper protein folding and function. When this pathway is disrupted, it leads to multi-system complications affecting neurological development, liver function, and overall metabolic stability.
What Does the Test Detect?
Our comprehensive NGS Genetic DNA Test specifically targets:
- Pathogenic variants in the RFT1 gene responsible for glycosylation disorders
- Single nucleotide polymorphisms (SNPs) affecting protein function
- Insertion/deletion mutations disrupting gene expression
- Copy number variations impacting metabolic pathways
- Regulatory sequence alterations affecting glycosylation processes
Advanced NGS Technology
Utilizing cutting-edge Next-Generation Sequencing technology, our test provides unparalleled accuracy in detecting even the most subtle genetic variations. This comprehensive approach ensures 99% detection sensitivity for RFT1 gene mutations, offering reliable results for clinical decision-making.
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with:
- Unexplained developmental delays in infancy or childhood
- Neurological symptoms including seizures, hypotonia, or ataxia
- Failure to thrive despite adequate nutrition
- Hepatic dysfunction or abnormal liver enzyme levels
- Coagulation abnormalities without clear cause
- Family history of metabolic disorders or unexplained infant deaths
- Multiple system involvement without definitive diagnosis
- Suspected congenital disorders of glycosylation
Clinical Indications
Healthcare providers should consider this test when patients exhibit multi-system involvement, particularly when standard metabolic screening yields inconclusive results. The test is especially valuable for pediatric patients with complex presentations that defy conventional diagnostic approaches.
Benefits of RFT1 Genetic Testing
- Early Diagnosis: Enables timely intervention before irreversible complications develop
- Personalized Treatment: Guides targeted therapeutic approaches based on specific genetic mutations
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Insights: Helps predict disease progression and potential complications
- Comprehensive Analysis: Offers complete genetic profiling beyond standard metabolic testing
- Clinical Management: Supports development of individualized care plans
Transformative Diagnostic Power
By identifying the specific genetic basis of glycosylation disorders, this test transforms diagnostic uncertainty into actionable clinical information, enabling healthcare providers to implement evidence-based treatment strategies.
Understanding Your Test Results
Your genetic test results will be carefully analyzed and presented with comprehensive interpretation:
- Positive Result: Indicates the presence of pathogenic RFT1 gene mutations. Our genetic counselors will provide detailed explanations of the specific variants detected and their clinical implications.
- Negative Result: Suggests no disease-causing mutations were identified in the RFT1 gene, though other genetic or metabolic conditions may need consideration.
- Variant of Uncertain Significance (VUS): Some genetic changes may have unknown clinical impact. Our team provides ongoing monitoring and reclassification as new research emerges.
Post-Test Genetic Counseling
All positive results include comprehensive genetic counseling sessions to help patients and families understand the implications, inheritance patterns, and management strategies for glycosylation disorders.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | RFT1 Gene Glycosylation Disorder Type 1N 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) Technology |
Pre-Test Requirements
Before testing, we require:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree chart
- 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 cities. Our network of certified genetic testing facilities ensures consistent quality and reliable results nationwide.
Easy Sample Collection
Sample collection is simple and can be performed at any of our partner facilities or through at-home collection kits with proper medical supervision. Our flexible sample options accommodate various patient needs and circumstances.
Take Control of Your Genetic Health Today
Don’t let diagnostic uncertainty delay proper treatment. Our RFT1 Gene Glycosylation Disorder Type 1N NGS Genetic DNA Test provides the clarity needed for effective management of complex metabolic conditions. With our special discounted price of $500 USD, advanced genetic testing is more accessible than ever.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our dedicated genetic specialists are ready to guide you through every step of the testing process and help you understand your results.
Early detection through comprehensive genetic testing can make a significant difference in managing glycosylation disorders and improving quality of life. Take the first step toward genetic clarity and personalized medical care.
