STT3A Gene Congenital Disorder of Glycosylation Type Iw NGS Genetic DNA Test
Comprehensive Genetic Analysis for Metabolic Health
The STT3A Gene Congenital Disorder of Glycosylation Type Iw NGS Genetic DNA Test represents a breakthrough in diagnostic precision for rare metabolic conditions. This advanced genetic screening utilizes cutting-edge next-generation sequencing technology to identify mutations in the STT3A gene, which plays a crucial role in the oligosaccharyltransferase complex responsible for protein glycosylation. Glycosylation is a fundamental biological process where sugar molecules are attached to proteins, enabling proper cellular communication, immune function, and structural integrity.
What This Test Measures and Detects
This specialized genetic test specifically targets and analyzes the STT3A gene to identify pathogenic variants that disrupt normal glycosylation processes. The test examines:
- Complete sequencing of the STT3A gene coding regions
- Detection of point mutations, insertions, and deletions
- Identification of variants affecting protein structure and function
- Assessment of genetic changes impacting the oligosaccharyltransferase complex
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 abnormalities including seizures or ataxia
- Individuals with abnormal liver function tests without clear cause
- Patients with coagulation disorders or abnormal bleeding patterns
- Children with failure to thrive or feeding difficulties
- Individuals with family history of metabolic disorders
- Patients with distinctive facial features associated with CDG syndromes
Benefits of Genetic Testing
Undergoing the STT3A Gene CDG Type Iw test provides numerous advantages for patients and healthcare providers:
- Early Diagnosis: Enables prompt identification of congenital glycosylation disorders
- Personalized Treatment: Guides targeted therapeutic interventions based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Insights: Helps predict disease progression and potential complications
- Comprehensive Care: Facilitates multidisciplinary management approach
- Research Contribution: Advances understanding of rare metabolic conditions
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and metabolic specialists. Results typically fall into three categories:
- Positive Result: Indicates the presence of pathogenic variants in the STT3A gene, confirming diagnosis of congenital disorder of glycosylation type Iw
- Negative Result: No disease-causing variants detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
All results include detailed explanations and recommendations for next steps in management and follow-up care.
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take Control of Your Metabolic Health Today
Don’t let uncertainty about metabolic symptoms delay proper diagnosis and treatment. Our STT3A Gene Congenital Disorder of Glycosylation Type Iw NGS Genetic DNA Test provides the clarity needed for informed healthcare decisions. With results available in 3-4 weeks and multiple sample collection options including blood, extracted DNA, or blood spots on FTA cards, getting tested has never been more convenient.
Ready to schedule your genetic test? Contact our genetic counseling team at +1(267) 388-9828 to discuss your testing options and schedule an appointment. Our specialists are available to answer your questions and guide you through the testing process with compassion and expertise.
