SLC35C1 Gene Glycosylation Disorder Type 2C NGS Genetic DNA Test
Comprehensive Introduction to SLC35C1 Genetic Testing
The SLC35C1 Gene Glycosylation Disorder Type 2C NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, specifically designed to identify mutations in the SLC35C1 gene that cause congenital disorders of glycosylation (CDG). These rare metabolic conditions disrupt the essential process of protein glycosylation, where sugar molecules attach to proteins to ensure proper cellular function and communication.
Glycosylation disorders can have devastating effects on multiple organ systems, particularly the nervous system, making early and accurate diagnosis crucial for effective management and treatment planning. Our advanced testing methodology provides families and healthcare providers with definitive answers about this complex genetic condition.
What This Test Measures and Detects
This sophisticated genetic analysis specifically targets:
- Comprehensive sequencing of the SLC35C1 gene using Next Generation Sequencing technology
- Identification of pathogenic variants, including missense, nonsense, frameshift, and splice-site mutations
- Detection of both inherited and de novo genetic alterations
- Assessment of gene regions critical for proper nucleotide sugar transporter function
- Evaluation of genetic variants associated with impaired fucose metabolism
Technical Methodology
Our NGS-based approach ensures high sensitivity and specificity in detecting even rare genetic variants. The test analyzes the entire coding region of the SLC35C1 gene, including exon-intron boundaries, to provide comprehensive coverage and accurate results.
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with:
- Unexplained developmental delays in infancy or childhood
- Intellectual disability of unknown origin
- Recurrent seizures or epilepsy resistant to standard treatments
- Neurological abnormalities including hypotonia, ataxia, or movement disorders
- Growth retardation and failure to thrive
- Recurrent infections and immune system dysfunction
- Family history of similar neurological or metabolic disorders
- Abnormal biochemical markers suggesting glycosylation defects
Clinical Indications
Patients with suspected congenital disorders of glycosylation often present with multi-system involvement, making this test essential for neurologists, geneticists, and metabolic specialists seeking definitive diagnoses for complex clinical presentations.
Significant Benefits of SLC35C1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Provides definitive identification of SLC35C1-related disorders
- Personalized Treatment: Enables targeted therapeutic approaches based on specific genetic findings
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Prognostic Insights: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely implementation of supportive care and management strategies
- Research Contribution: Contributes to ongoing understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic report includes:
- Detailed interpretation of identified genetic variants
- Clinical significance assessment of each mutation
- Correlation with established disease mechanisms
- Inheritance pattern analysis
- Recommendations for clinical management and follow-up testing
- Genetic counseling guidance for family members
Result Interpretation Framework
Results are categorized as pathogenic, likely pathogenic, variants of uncertain significance, likely benign, or benign. Our genetic specialists provide clear explanations of what each result means for your health and family planning decisions.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Additional Test Information
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Pre-test Requirements: Clinical History and Genetic Counseling Session
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services 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 network of certified genetic counselors and medical professionals ensures accessible, high-quality care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological symptoms or family genetic risks prevent you from getting the answers you need. Our expert team is ready to guide you through the testing process and provide the comprehensive genetic insights necessary for informed healthcare decisions.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your SLC35C1 Gene Glycosylation Disorder Type 2C NGS Genetic DNA Test. Take control of your genetic health with confidence and clarity.
