COL4A1 Gene Porencephaly Familial NGS Genetic DNA Test
Comprehensive Genetic Testing for Familial Porencephaly
The COL4A1 Gene Porencephaly Familial NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for neurological disorders. This advanced screening method specifically targets mutations in the COL4A1 gene, which encodes type IV collagen alpha-1 chain – a critical component of basement membranes throughout the body, particularly in cerebral blood vessels.
What This Test Measures and Detects
Our state-of-the-art Next-Generation Sequencing (NGS) technology comprehensively analyzes the COL4A1 gene to identify:
- Pathogenic mutations associated with familial porencephaly
- Genetic variations affecting collagen IV production
- Inheritance patterns for autosomal dominant conditions
- Specific nucleotide changes impacting cerebral vascular integrity
Who Should Consider This Genetic Test
This specialized genetic screening is recommended for individuals experiencing:
- Family history of porencephaly or cerebral cavities
- Unexplained infantile hemiparesis or cerebral palsy symptoms
- Recurrent strokes or cerebrovascular events in childhood
- Developmental delays with suspected genetic etiology
- Planning pregnancy with known family risk of COL4A1 mutations
- Multiple family members with neurological disorders
Key Benefits of COL4A1 Genetic Testing
- Early Diagnosis: Enables prompt intervention and management strategies
- Family Planning: Provides crucial information for reproductive decisions
- Personalized Care: Guides targeted treatment approaches
- Risk Assessment: Identifies asymptomatic family members at risk
- Peace of Mind: Reduces uncertainty about genetic inheritance
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret results effectively:
- Positive Result: Indicates presence of COL4A1 mutation; enables proactive medical management and family screening
- Negative Result: Suggests absence of tested mutations; consult genetic counselor for complete risk assessment
- Variant of Unknown Significance: Requires ongoing monitoring and potential family studies
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | COL4A1 Gene Porencephaly Familial 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 |
| Specialty | Pediatrics |
| Department | Genetics |
| Method | NGS Technology |
| Disease Type | Dysmorphology |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session for pedigree analysis
- Family medical history review
- Understanding of test implications and limitations
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, San Jose, and many more cities nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about familial porencephaly affect your family’s future. Our expert genetic counselors and advanced NGS technology provide the answers you need for informed healthcare decisions.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your COL4A1 Gene Porencephaly Familial NGS Genetic DNA Test and take the first step toward genetic clarity and peace of mind.
