SLC35C1 Gene Glycosylation Disorder Type 2C NGS Genetic DNA Test
Comprehensive Introduction to Glycosylation Disorder Testing
The SLC35C1 Gene Glycosylation Disorder Type 2C NGS Genetic DNA Test represents a breakthrough in metabolic disorder diagnostics. This advanced genetic test specifically targets the SLC35C1 gene, which plays a critical role in the glycosylation process – the attachment of sugar molecules to proteins and lipids. When this gene malfunctions, it leads to Congenital Disorders of Glycosylation Type 2C, a rare but serious metabolic condition affecting multiple body systems.
Glycosylation is essential for proper protein function, cell signaling, and immune system regulation. The SLC35C1 gene encodes a nucleotide sugar transporter that facilitates the movement of specific sugar molecules into the Golgi apparatus, where glycosylation occurs. Mutations in this gene disrupt this transport process, leading to improperly glycosylated proteins that cannot perform their normal functions.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based test specifically identifies:
- Pathogenic variants in the SLC35C1 gene coding regions
- Missense, nonsense, and frameshift mutations affecting protein function
- Copy number variations and large deletions/duplications
- Single nucleotide polymorphisms associated with glycosylation disorders
- Regulatory region mutations affecting gene expression
The test utilizes next-generation sequencing technology with 99.9% coverage of the SLC35C1 gene, ensuring comprehensive mutation detection. Our advanced bioinformatics pipeline analyzes sequencing data to identify both known and novel pathogenic variants, providing clinicians with actionable genetic information.
Clinical Indications and Who Should Consider Testing
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
- Recurrent infections suggesting immune system dysfunction
- Coagulation abnormalities or bleeding disorders
- Hepatic involvement with elevated liver enzymes
- Family history of glycosylation disorders or unexplained infant deaths
- Abnormal transferrin glycosylation patterns on biochemical testing
Significant Benefits of SLC35C1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Definitive Diagnosis: Confirms or rules out glycosylation disorder type 2C with high accuracy
- Personalized Treatment: Enables targeted therapeutic interventions based on specific genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely management to prevent disease complications
- Prognostic Information: Helps predict disease progression and potential outcomes
- Research Contribution: Advances understanding of rare metabolic disorders
Understanding Your Genetic Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Identifies a pathogenic mutation in the SLC35C1 gene, confirming diagnosis of glycosylation disorder type 2C. Our genetic counselors will explain inheritance patterns and provide management recommendations.
- Negative Result: No pathogenic variants detected in the SLC35C1 gene, effectively ruling out this specific disorder. However, other genetic causes should be considered if clinical symptoms persist.
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact. Follow-up testing of family members may be recommended to determine significance.
All results are accompanied by detailed clinical correlation and management recommendations from our board-certified genetic specialists.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have conveniently located testing centers across the United States, including major metropolitan areas such as New York City, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure consistent, high-quality sample collection and processing.
Take Control of Your Genetic Health Today
Don’t let uncertainty about metabolic symptoms affect your quality of life. Our SLC35C1 Gene Glycosylation Disorder Type 2C NGS Genetic DNA Test provides the answers you need for proper diagnosis and management. With our discounted price of $500 USD and comprehensive genetic counseling services, you’ll receive expert guidance every step of the way.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation. Our genetic specialists are available to discuss your symptoms, explain the testing process, and help you understand how this advanced genetic analysis can provide clarity for your health concerns.
Early diagnosis through genetic testing can significantly improve outcomes for individuals with glycosylation disorders. Take the first step toward understanding your genetic health – book your SLC35C1 genetic test today and gain access to personalized medical insights that can transform your healthcare journey.
