DPM3 Gene Glycosylation Disorder Type 1O NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The DPM3 Gene Glycosylation Disorder Type 1O NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for metabolic disorders. This advanced test specifically targets the DPM3 gene, which plays a crucial role in the dolichol-phosphate-mannose synthesis pathway essential for proper protein glycosylation. Glycosylation disorders, particularly Type 1O, represent a group of rare inherited metabolic conditions that affect multiple organ systems and can lead to severe developmental and neurological complications if left undiagnosed.
What Does This Test Measure?
This comprehensive genetic test utilizes Next-Generation Sequencing (NGS) technology to analyze the entire coding region of the DPM3 gene, detecting:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations affecting the DPM3 gene
- Pathogenic variants associated with glycosylation disorders
- Novel mutations that may impact protein function
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with:
- Unexplained developmental delays in infancy or childhood
- Neurological symptoms including seizures or hypotonia
- Failure to thrive and growth abnormalities
- Coagulation disorders or abnormal bleeding tendencies
- Hepatic dysfunction without clear cause
- Family history of congenital disorders of glycosylation
- Multiple congenital anomalies affecting various organ systems
- Suspected metabolic disorders with unclear etiology
Clinical Benefits of Testing
Undergoing the DPM3 Gene Glycosylation Disorder Type 1O test provides numerous clinical advantages:
- Accurate Diagnosis: Provides definitive genetic confirmation of glycosylation disorders
- Personalized Treatment: Enables targeted therapeutic interventions based on genetic findings
- Family Planning: Assists in reproductive decision-making and genetic counseling
- Prognostic Information: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely management strategies to improve 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 certified genetic counselors and metabolic specialists:
- Positive Result: Indicates the presence of pathogenic variants in the DPM3 gene, confirming diagnosis of glycosylation disorder type 1O
- Negative Result: Suggests no disease-causing variants were detected in the DPM3 gene
- Variant of Uncertain Significance: Some genetic changes may require additional family studies for proper interpretation
- Carrier Status: Identifies individuals who carry one copy of a mutated gene but may not show symptoms
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps.
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| DPM3 Gene Glycosylation Disorder Type 1O NGS Genetic DNA Test – Discount Price | $500 |
| DPM3 Gene Glycosylation Disorder Type 1O NGS Genetic DNA Test – Regular Price | $700 |
Test Specifications
- 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: Genetics and Metabolic Disorders
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Understanding of test implications and potential outcomes
- Informed consent for genetic testing
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 cities nationwide. Our network of certified collection centers ensures accessible genetic testing services for patients throughout the country.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about metabolic disorders affect your health decisions. Our comprehensive DPM3 Gene Glycosylation Disorder Type 1O NGS Genetic DNA Test provides the genetic insights needed for accurate diagnosis and personalized care planning. With our discounted price of $500 USD and nationwide availability, advanced genetic testing has never been more accessible.
Call 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.
