TMEM165 Gene Glycosylation Disorder Type 2K NGS Genetic DNA Test
Comprehensive Introduction to Glycosylation Disorder Testing
Glycosylation disorders represent a group of rare metabolic conditions that affect the complex process of adding sugar molecules to proteins and lipids. The TMEM165 Gene Glycosylation Disorder Type 2K NGS Genetic DNA Test specifically targets mutations in the TMEM165 gene, which plays a critical role in maintaining proper glycosylation within cellular compartments. This advanced diagnostic tool is essential for identifying congenital disorders of glycosylation (CDG) that can significantly impact multiple organ systems and developmental processes.
Next-generation sequencing technology enables comprehensive analysis of the TMEM165 gene with unprecedented accuracy and detail. The importance of this test lies in its ability to provide definitive diagnosis for conditions that often present with complex, multi-system symptoms that can be challenging to diagnose through conventional methods alone.
What the Test Measures and Detects
The TMEM165 Gene Glycosylation Disorder Type 2K NGS Genetic DNA Test specifically identifies:
- Pathogenic variants in the TMEM165 gene responsible for CDG type 2K
- Single nucleotide polymorphisms affecting glycosylation pathways
- Insertion and deletion mutations disrupting protein function
- Copy number variations impacting gene expression
- Regulatory region mutations affecting TMEM165 activity
This comprehensive analysis covers the entire coding region and critical regulatory elements of the TMEM165 gene, ensuring thorough detection of potential disease-causing mutations.
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
Individuals presenting with the following symptoms should consider TMEM165 gene testing:
- Unexplained developmental delays in infancy or childhood
- Neurological abnormalities including seizures or hypotonia
- Failure to thrive despite adequate nutrition
- Coagulation disorders and abnormal bleeding tendencies
- Hepatic dysfunction without clear etiology
- Abnormal serum transferrin isoforms suggestive of glycosylation defects
- Family history of congenital disorders of glycosylation
- Consanguineous parentage with metabolic concerns
Significant Benefits of TMEM165 Genetic Testing
Undergoing the TMEM165 Gene Glycosylation Disorder Type 2K test provides numerous advantages:
- Accurate Diagnosis: Provides definitive identification of CDG type 2K, eliminating diagnostic uncertainty
- Personalized Treatment: Enables targeted therapeutic interventions based on specific genetic findings
- Family Planning: Offers crucial information for genetic counseling and reproductive decision-making
- Prognostic Insights: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely management strategies to improve long-term outcomes
- Research Contribution: Contributes to expanding knowledge about rare metabolic disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your TMEM165 gene test results:
Positive Results
A positive result indicates the presence of pathogenic variants in the TMEM165 gene consistent with glycosylation disorder type 2K. This confirmation enables:
- Implementation of targeted management strategies
- Regular monitoring for potential complications
- Family member testing recommendations
- Access to specialized metabolic care
Negative Results
A negative result suggests no disease-causing variants were detected in the TMEM165 gene. However, clinical correlation remains essential, as other genetic or metabolic conditions may produce similar symptoms.
Variant of Uncertain Significance
Some genetic changes may be classified as variants of uncertain significance (VUS). In such cases, ongoing research and family studies may help clarify the clinical relevance of these findings.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| TMEM165 Gene Glycosylation Disorder Type 2K NGS Genetic DNA Test – Discount Price | $500 |
| TMEM165 Gene Glycosylation Disorder Type 2K NGS Genetic DNA Test – Regular Price | $700 |
Additional Test Information
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Methodology: Next-Generation Sequencing (NGS) Technology
- Specialty: Metabolic Genetics
Pre-Test Requirements
Before undergoing the TMEM165 Gene Glycosylation Disorder Type 2K test, patients should provide:
- Complete clinical history detailing symptoms and progression
- Genetic counseling session to create a comprehensive family pedigree
- Documentation of previous metabolic testing and results
- Informed consent for genetic testing and potential implications
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 other cities. Our network of certified genetic counselors and metabolic specialists ensures comprehensive care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let diagnostic uncertainty delay appropriate care. The TMEM165 Gene Glycosylation Disorder Type 2K NGS Genetic DNA Test provides the definitive answers needed for effective management of complex metabolic conditions. Our team of genetic specialists is ready to guide you through the testing process and help interpret your results within the context of your unique clinical presentation.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take control of your metabolic health journey.
