COL4A2 Gene Porencephaly Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The COL4A2 Gene Porencephaly Type 2 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations associated with porencephaly type 2. This rare neurological condition affects brain development and can lead to significant health challenges throughout life. Our advanced testing methodology provides crucial information for accurate diagnosis and personalized treatment approaches.
What is COL4A2 Gene Porencephaly Type 2?
Porencephaly type 2 is a rare neurological disorder characterized by fluid-filled cavities or cysts within the cerebral hemispheres of the brain. The condition results from mutations in the COL4A2 gene, which encodes type IV collagen alpha-2 chain, a critical component of basement membranes throughout the body, including blood vessels in the brain. These genetic alterations can disrupt normal brain development and vascular integrity, leading to the characteristic brain abnormalities.
What Does This Test Detect?
Our comprehensive NGS-based genetic test specifically targets:
- Pathogenic variants in the COL4A2 gene associated with porencephaly type 2
- Single nucleotide variants (SNVs) and small insertions/deletions (indels)
- Copy number variations (CNVs) affecting the COL4A2 gene region
- Novel mutations that may not be documented in existing databases
The test utilizes state-of-the-art Next-Generation Sequencing technology to provide comprehensive coverage of the entire COL4A2 gene coding region and flanking intronic sequences, ensuring maximum detection sensitivity for clinically relevant variants.
Who Should Consider This Test?
Clinical Indications and Symptoms
This genetic test is particularly recommended for individuals presenting with:
- Unexplained neurological symptoms in infancy or childhood
- Developmental delays or regression in motor skills
- Seizures or epilepsy of unknown origin
- Spasticity or muscle stiffness
- Microcephaly or abnormal head size
- Visual impairments or eye movement abnormalities
- Family history of porencephaly or related neurological conditions
- Prenatal ultrasound findings suggesting brain abnormalities
- Recurrent strokes or cerebrovascular events in young individuals
Family Planning Considerations
Couples with a family history of COL4A2-related disorders should consider genetic testing for informed reproductive decisions and prenatal diagnosis options.
Benefits of COL4A2 Genetic Testing
Clinical Advantages
- Accurate Diagnosis: Provides definitive genetic confirmation of porencephaly type 2, eliminating diagnostic uncertainty
- Personalized Treatment: Enables targeted therapeutic approaches based on specific genetic findings
- Prognostic Information: Helps predict disease progression and potential complications
- Family Risk Assessment: Identifies at-risk family members for early intervention
- Reproductive Planning: Supports informed family planning decisions and prenatal testing options
- Research Contribution: Advances scientific understanding of COL4A2-related disorders
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive genetic report provides detailed interpretation of your results:
- Positive Result: Identification of a pathogenic COL4A2 variant confirms the diagnosis of porencephaly type 2 and provides information for family screening
- Negative Result: No pathogenic variants detected, though this does not completely rule out the condition if clinical features are strongly suggestive
- Variant of Uncertain Significance (VUS): Genetic changes with unclear clinical significance require correlation with clinical findings and family studies
- Carrier Status: Identification of individuals who carry one copy of a pathogenic variant and may be at risk of passing the condition to offspring
Post-Test Counseling
All positive results and variants of uncertain significance include recommendations for genetic counseling to discuss implications for the patient and family members.
Test Details and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | COL4A2 Gene Porencephaly Type 2 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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 | Neurology and Genetics |
| Disease Category | Neurological Disorders |
Pre-Test Requirements
Essential Preparations
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree chart
- Identification of affected family members with COL4A2-related symptoms
- Discussion of test implications and potential outcomes
- Informed consent process 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. Our network of certified collection centers ensures accessible testing for patients nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological symptoms affect your quality of life. Our COL4A2 Gene Porencephaly Type 2 NGS Genetic DNA Test provides the answers you need for proper diagnosis and management. With our discounted price of $500 USD and comprehensive genetic analysis, you can make informed decisions about your health and family planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take control of your neurological health journey.
Our team of genetic specialists and neurologists is ready to guide you through the testing process and provide the expert interpretation you deserve. Early genetic diagnosis can significantly impact treatment outcomes and quality of life for individuals with COL4A2-related disorders.
