SLC35A2 Gene Glycosylation Disorder Type 2M NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The SLC35A2 Gene Glycosylation Disorder Type 2M NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for metabolic conditions. This advanced testing methodology provides crucial insights into congenital disorders of glycosylation (CDG), specifically targeting Type 2M conditions caused by mutations in the SLC35A2 gene. Our state-of-the-art Next Generation Sequencing technology ensures accurate detection of genetic variants that impact critical cellular processes.
What This Test Measures and Detects
This specialized genetic test focuses on identifying mutations within the SLC35A2 gene, which encodes for the UDP-galactose transporter protein. The test specifically detects:
- Point mutations and small insertions/deletions in the SLC35A2 gene
- Genetic variants affecting galactose transport into the Golgi apparatus
- Mutations disrupting normal protein glycosylation pathways
- Inherited and de novo genetic changes associated with CDG Type 2M
- Variants affecting N-linked and O-linked glycosylation processes
Who Should Consider This Test
This genetic test is recommended for individuals presenting with symptoms suggestive of congenital disorders of glycosylation, including:
- Infants and children with unexplained developmental delays
- Patients with neurological symptoms including seizures or hypotonia
- Individuals with abnormal liver function tests or coagulopathy
- Patients with distinctive facial features or skeletal abnormalities
- Those with family history of metabolic disorders or unexplained infant mortality
- Children with failure to thrive or feeding difficulties
- Patients with abnormal transferrin glycosylation patterns
Clinical Benefits of Genetic Testing
Undergoing the SLC35A2 Gene Glycosylation Disorder Type 2M test provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out CDG Type 2M with high accuracy
- Personalized Treatment: Enables targeted therapeutic interventions
- Genetic Counseling: Provides essential information for family planning
- Early Intervention: Facilitates timely management of symptoms
- Prognostic Information: Helps predict disease progression and outcomes
- Research Contribution: Advances understanding of rare metabolic disorders
Understanding Your Test Results
Our comprehensive genetic analysis provides detailed insights into your SLC35A2 gene status:
- Positive Result: Indicates presence of pathogenic variants associated with CDG Type 2M, requiring specialized medical management
- Negative Result: Suggests absence of known disease-causing mutations in the SLC35A2 gene
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Detects individuals carrying one copy of mutated gene without disease manifestation
All results are accompanied by detailed interpretation from our board-certified genetic specialists, ensuring you receive comprehensive guidance for next steps.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | SLC35A2 Gene Glycosylation Disorder Type 2M 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 |
Nationwide Testing Availability
GGC DNA maintains 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 network of certified collection centers ensures accessible genetic testing services for patients nationwide.
Take Control of Your Genetic Health
Don’t let uncertainty about metabolic disorders affect your quality of life. Our SLC35A2 Gene Glycosylation Disorder Type 2M NGS Genetic DNA Test provides the clarity you need for informed medical decisions. With our discounted price of $500 USD and comprehensive genetic analysis, you can access cutting-edge diagnostic technology backed by expert interpretation.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health with confidence and precision.
