SLC35A1 Gene Glycosylation Disorder Type 2F NGS Genetic DNA Test
Comprehensive Introduction to SLC35A1 Genetic Testing
The SLC35A1 Gene Glycosylation Disorder Type 2F NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying congenital disorders of glycosylation (CDG). This specialized genetic analysis focuses on the SLC35A1 gene, which plays a critical role in the glycosylation process—a fundamental biological mechanism where sugar molecules are added to proteins and lipids. Proper glycosylation is essential for numerous cellular functions, including protein folding, cell signaling, and immune system regulation.
Congenital disorders of glycosylation type 2F, caused by mutations in the SLC35A1 gene, represent a rare but significant group of inherited metabolic disorders. These conditions primarily affect neurological development and can manifest with varying severity across different individuals. Early and accurate diagnosis through this advanced genetic test enables healthcare providers to implement appropriate management strategies and provide families with crucial genetic counseling.
What This Advanced Genetic Test Detects
Our SLC35A1 Gene Glycosylation Disorder Type 2F NGS Genetic DNA Test utilizes next-generation sequencing technology to comprehensively analyze the entire SLC35A1 gene. This sophisticated approach enables the detection of:
- Point mutations and single nucleotide variants affecting gene function
- Small insertions and deletions that disrupt normal protein production
- Copy number variations that may impact gene dosage
- Splice site mutations affecting mRNA processing
- Regulatory region variants influencing gene expression
The test specifically identifies mutations in the SLC35A1 gene that encode the CMP-sialic acid transporter protein. This transporter is essential for moving activated sialic acid molecules into the Golgi apparatus, where they are incorporated into glycoproteins and glycolipids. Disruptions in this process lead to improper glycosylation patterns, resulting in the clinical manifestations of CDG type 2F.
Who Should Consider SLC35A1 Genetic Testing
This specialized genetic test is recommended for individuals presenting with specific clinical features or family history patterns:
Clinical Indications and Symptoms
- Infants and children with unexplained developmental delays
- Patients exhibiting neurological symptoms including seizures, hypotonia, or ataxia
- Individuals with abnormal coagulation profiles or bleeding tendencies
- Patients with distinctive facial features associated with CDG syndromes
- Children showing failure to thrive or feeding difficulties
- Individuals with abnormal transferrin glycosylation patterns
Family History Considerations
- Families with previous children affected by glycosylation disorders
- Parents planning pregnancy with known family history of CDG
- Individuals from consanguineous relationships with neurological disorders
- Families seeking carrier testing for genetic counseling purposes
Significant Benefits of SLC35A1 Genetic Testing
Undergoing the SLC35A1 Gene Glycosylation Disorder Type 2F NGS Genetic DNA Test provides numerous advantages for patients and families:
- Accurate Diagnosis: Provides definitive molecular confirmation of CDG type 2F, eliminating diagnostic uncertainty
- Early Intervention: Enables timely implementation of appropriate medical management and therapeutic strategies
- Genetic Counseling: Offers families comprehensive information about inheritance patterns and recurrence risks
- Reproductive Planning: Assists in family planning decisions and prenatal testing options
- Personalized Care: Facilitates development of individualized treatment plans based on specific genetic findings
- Research Contribution: Contributes to ongoing scientific understanding of glycosylation disorders
Understanding Your Genetic Test Results
Interpreting SLC35A1 genetic test results requires expert analysis and clinical correlation:
Possible Result Interpretations
- Positive Result: Identification of pathogenic mutations confirms diagnosis of CDG type 2F and enables targeted management
- Negative Result: Absence of detected mutations may exclude SLC35A1-related disorders but doesn’t rule out other CDG types
- Variant of Uncertain Significance: Requires additional family studies and functional analysis for proper interpretation
- Carrier Status: Identifies individuals with single mutation copies who may pass the condition to offspring
All results are accompanied by comprehensive genetic counseling to ensure proper understanding and appropriate next steps. Our team of certified genetic counselors provides detailed explanations and guidance for each specific finding.
Test Details and Pricing Information
| Test Component | Details |
|---|---|
| Test Name | SLC35A1 Gene Glycosylation Disorder Type 2F 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 optimal testing outcomes, we recommend the following preparations:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree chart
- Discussion of testing implications and potential outcomes
- Informed consent process explaining benefits and limitations
- Coordination with referring neurologist or genetic specialist
Nationwide Testing Availability
We proudly offer the SLC35A1 Gene Glycosylation Disorder Type 2F NGS Genetic DNA Test across our extensive network of testing facilities throughout the United States. Our state-of-the-art laboratories serve patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Each location maintains the same high standards of quality, accuracy, and patient care.
Take the Next Step Toward Genetic Clarity
If you or your family member are experiencing symptoms suggestive of congenital disorders of glycosylation, or if you have concerns about inherited neurological conditions, the SLC35A1 genetic test provides crucial diagnostic information. Our team of genetic specialists and neurologists are ready to guide you through the testing process and help interpret your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book the SLC35A1 Gene Glycosylation Disorder Type 2F NGS Genetic DNA Test. Take control of your genetic health with our comprehensive diagnostic services.
