DDOST Gene Glycosylation Disorder Type IR NGS Genetic DNA Test
Comprehensive Genetic Testing for Glycosylation Disorders
The DDOST Gene Glycosylation Disorder Type IR NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying congenital disorders of glycosylation (CDG). This specialized genetic test utilizes next-generation sequencing technology to analyze the DDOST gene, which plays a critical role in the oligosaccharyltransferase complex responsible for proper protein glycosylation. Glycosylation is an essential biological process where sugar molecules are attached to proteins, affecting their structure, stability, and function throughout the body.
What This Test Detects and Measures
This comprehensive genetic analysis specifically targets mutations in the DDOST gene that cause Glycosylation Disorder Type IR, also known as CDG-Ir. The test examines:
- Point mutations, insertions, and deletions in the DDOST gene
- Variants affecting the oligosaccharyltransferase complex function
- Genetic abnormalities disrupting N-linked glycosylation pathways
- Inherited patterns of metabolic disorder transmission
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with:
- Unexplained developmental delays in infancy or childhood
- Neurological symptoms including seizures, hypotonia, or ataxia
- Failure to thrive and growth retardation
- Coagulation abnormalities and liver dysfunction
- Family history of inherited metabolic disorders
- Abnormal transferrin glycosylation patterns
- Multiple system involvement without clear diagnosis
Significant Benefits of Genetic Testing
Undergoing the DDOST Gene Glycosylation Disorder Type IR test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out specific genetic causes of symptoms
- Personalized Treatment: Enables targeted therapeutic interventions
- Family Planning: Provides crucial information for genetic counseling
- Early Intervention: Facilitates timely management strategies
- Prognostic Information: Helps predict disease progression and outcomes
- Research Contribution: Advances understanding of rare metabolic disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of genetic specialists:
- Positive Result: Indicates identified pathogenic variants in the DDOST gene, confirming diagnosis of Glycosylation Disorder Type IR
- Negative Result: Suggests absence of known disease-causing mutations in the tested gene
- Variant of Uncertain Significance: May require additional family studies or follow-up testing
- Carrier Status: Identifies individuals who carry one copy of a mutated gene
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps for medical management.
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have conveniently located branches across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art genetic testing facilities ensure consistent, high-quality results regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic metabolic disorders affect your health decisions. Our comprehensive DDOST Gene Glycosylation Disorder Type IR NGS Genetic DNA Test provides the answers you need for informed medical care. With a turnaround time of 3-4 weeks and sample collection options including blood, extracted DNA, or blood spots on FTA cards, getting tested has never been more accessible.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our genetic specialists are ready to guide you through the testing process and help you understand your results for better health outcomes.
