PMM2 Gene Glycosylation Disorder Type 1A NGS Genetic DNA Test
Understanding PMM2 Gene Glycosylation Disorder Type 1A
Congenital Disorders of Glycosylation (CDG) represent a group of rare inherited metabolic conditions affecting the complex process of glycosylation – the attachment of sugar molecules to proteins and lipids. PMM2-CDG (formerly known as CDG-Ia) is the most common form, caused by mutations in the PMM2 gene located on chromosome 16p13. This gene encodes phosphomannomutase 2, an essential enzyme in the early steps of N-glycosylation pathway. When this enzyme functions improperly, it disrupts the proper folding and function of numerous glycoproteins throughout the body, leading to multi-system complications.
What Does This Test Detect?
Our advanced NGS Genetic DNA Test specifically targets the PMM2 gene to identify pathogenic variants responsible for Glycosylation Disorder Type 1A. The test examines:
- Complete coding regions of the PMM2 gene
- Exon-intron boundaries for splice site mutations
- Known pathogenic variants associated with CDG-Ia
- Novel mutations through comprehensive sequence analysis
- Copy number variations affecting gene function
Technical Methodology
Utilizing cutting-edge Next-Generation Sequencing technology, our test provides high-resolution analysis of the PMM2 gene with exceptional accuracy. The NGS platform enables simultaneous examination of multiple genetic regions, ensuring comprehensive coverage and reliable detection of even rare variants that might be missed by conventional methods.
Who Should Consider This Test?
This genetic screening is recommended for individuals presenting with clinical features suggestive of PMM2-CDG, including:
Clinical Indications
- Infants with failure to thrive and developmental delay
- Children with neurological symptoms including seizures, hypotonia, or stroke-like episodes
- Patients with inverted nipples, abnormal fat distribution, or lipodystrophy
- Individuals with hepatic dysfunction or coagulopathy of unknown origin
- Those with cerebellar hypoplasia or other structural brain abnormalities
- Patients with endocrine abnormalities including hypoglycemia
- Family history of congenital disorders of glycosylation
Symptom Presentation
Clinical manifestations typically appear in infancy and may include feeding difficulties, vomiting, diarrhea, and impaired growth. Neurological involvement often presents as developmental delay, intellectual disability, and various movement disorders. Many affected individuals show distinctive facial features and skeletal abnormalities that become more apparent with age.
Benefits of PMM2 Genetic Testing
Undergoing PMM2 gene testing provides numerous advantages for patients and families:
Diagnostic Clarity
- Provides definitive diagnosis for complex clinical presentations
- Differentiates PMM2-CDG from other metabolic disorders with similar symptoms
- Enables accurate prognosis and disease monitoring
- Facilitates appropriate medical management strategies
Family Planning and Genetic Counseling
- Identifies carrier status in family members
- Enables informed reproductive decision-making
- Provides recurrence risk assessment for future pregnancies
- Supports prenatal diagnosis when indicated
Therapeutic Guidance
- Guides targeted therapeutic interventions
- Helps monitor treatment response and disease progression
- Supports enrollment in clinical trials and research studies
- Facilitates multidisciplinary care coordination
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your PMM2 gene analysis:
Positive Result
A positive result indicates the presence of pathogenic mutations in the PMM2 gene, confirming the diagnosis of Congenital Disorder of Glycosylation Type 1A. This finding enables:
- Implementation of appropriate medical management
- Referral to metabolic specialists and multidisciplinary care teams
- Family member testing and genetic counseling
- Access to specialized support services and resources
Negative Result
A negative result suggests that no pathogenic variants were detected in the PMM2 gene. However, this does not completely rule out a glycosylation disorder, as:
- Other CDG types caused by different genes may be considered
- Rare mutations in non-coding regions may not be detected
- Additional metabolic testing may be recommended
- Clinical correlation remains essential
Variant of Uncertain Significance
If a genetic change of unknown clinical significance is identified, our genetic counselors provide detailed explanation and may recommend:
- Parental testing to determine inheritance pattern
- Additional functional studies when available
- Periodic re-evaluation as new information emerges
- Continued clinical monitoring
Test Information and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | PMM2 Gene Glycosylation Disorder Type 1A NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialty | Metabolic Genetics |
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation
- Genetic counseling session with certified genetic counselor
- Development of detailed pedigree chart documenting family history
- Discussion of testing implications and potential outcomes
- Informed consent process
Nationwide Accessibility
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, and San Jose. Our network of certified collection centers ensures accessible testing regardless of your location.
Take the Next Step Toward Diagnosis
If you or your loved one is experiencing symptoms suggestive of PMM2-CDG, don’t delay in seeking answers. Our comprehensive genetic testing provides the clarity needed for proper diagnosis and management. Early detection can significantly impact treatment outcomes and quality of life.
Ready to Schedule Your Test?
Contact our genetic specialists today to discuss your testing needs and schedule your appointment. Our team is available to answer your questions and guide you through the testing process.
Call us now at +1(267) 388-9828 to speak with a genetic counselor or schedule your PMM2 Gene Glycosylation Disorder Type 1A NGS Genetic DNA Test. Take control of your health journey with definitive genetic insights from America’s trusted diagnostic provider.
Our compassionate team understands the emotional journey of genetic testing and is committed to providing supportive, comprehensive care throughout your diagnostic process. Trust General Genetics Corporation for accurate, reliable genetic testing you can depend on.
