DPM1 Gene Glycosylation Disorder Type 1E NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The DPM1 Gene Glycosylation Disorder Type 1E NGS Genetic DNA Test represents a breakthrough in diagnostic precision for individuals and families affected by congenital disorders of glycosylation. This specialized genetic examination focuses on identifying mutations within the DPM1 gene, which plays a critical role in the dolichol phosphate mannose synthesis pathway essential for proper protein glycosylation.
What is Glycosylation Disorder Type 1E?
Congenital disorders of glycosylation (CDG) represent a rapidly expanding group of inherited metabolic diseases characterized by defective glycosylation of proteins and lipids. Type 1E specifically results from mutations in the DPM1 gene, leading to impaired synthesis of dolichol-phosphate-mannose, a crucial donor substrate for N-glycosylation, O-mannosylation, and glycosylphosphatidylinositol anchor biosynthesis.
What This Test Detects and Measures
Our advanced NGS genetic testing provides comprehensive analysis of:
- Complete sequencing of the DPM1 gene to identify pathogenic variants
- Detection of single nucleotide variants, insertions, and deletions
- Assessment of gene copy number variations
- Evaluation of splice site mutations affecting protein function
- Identification of both inherited and de novo genetic alterations
Clinical Significance of DPM1 Mutations
Mutations in the DPM1 gene disrupt the normal glycosylation process, leading to multisystem manifestations including severe neurological impairment, developmental delays, coagulation abnormalities, and hepatic dysfunction. Early identification through genetic testing enables targeted interventions and comprehensive management strategies.
Who Should Consider This Genetic Test?
This specialized genetic screening is recommended for individuals presenting with:
- Unexplained developmental delays or intellectual disability
- Neurological symptoms including seizures, ataxia, or hypotonia
- Abnormal coagulation studies or liver function tests
- Family history of metabolic disorders or consanguinity
- Infants with failure to thrive and multisystem involvement
- Patients with suspected congenital disorders of glycosylation
Early Detection Saves Lives
Timely genetic diagnosis of DPM1-related disorders allows for proactive management of potential complications, including monitoring for stroke-like episodes, optimizing nutritional support, and implementing appropriate therapeutic interventions.
Benefits of DPM1 Genetic Testing
- Accurate Diagnosis: Provides definitive genetic confirmation of DPM1-related glycosylation disorders
- Family Planning: Enables informed reproductive decisions and prenatal testing options
- Personalized Care: Facilitates tailored treatment approaches based on specific genetic findings
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare metabolic disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results:
Positive Result Interpretation
A positive result indicates the presence of pathogenic mutations in the DPM1 gene, confirming the diagnosis of congenital disorder of glycosylation type 1E. Our genetic counselors will provide detailed explanations of the specific mutation, inheritance patterns, and implications for family members.
Negative Result Interpretation
A negative result suggests that no disease-causing mutations were identified in the DPM1 gene. However, this does not completely rule out a glycosylation disorder, as other genetic or metabolic causes may be responsible for clinical symptoms.
Variant of Uncertain Significance
In some cases, genetic variants of uncertain clinical significance may be identified. Our team provides ongoing monitoring and reclassification of these variants as new scientific evidence emerges.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and next steps
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. Our network of certified genetic counselors and healthcare professionals ensures consistent, high-quality care regardless of location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about metabolic disorders impact your quality of life. Our DPM1 Gene Glycosylation Disorder Type 1E NGS Genetic DNA Test provides the clarity and answers you need to make informed healthcare decisions. With our discounted price of only $500 USD, advanced genetic testing is more accessible than ever.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is standing by to answer your questions and guide you through the testing process with compassion and expertise.
