NOTCH3 Mutation Detection CADASIL Test
Understanding CADASIL and the NOTCH3 Gene
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a rare inherited neurological disorder that affects blood vessels in the brain. This condition is caused by mutations in the NOTCH3 gene located on chromosome 19. The NOTCH3 gene provides instructions for making a protein that plays a crucial role in the development and function of blood vessels, particularly the smooth muscle cells in cerebral arteries.
When mutations occur in the NOTCH3 gene, they lead to the accumulation of abnormal protein deposits in the walls of small blood vessels, causing progressive damage to the brain’s white matter. This damage results in the characteristic symptoms of CADASIL, including recurrent strokes, cognitive impairment, and migraines. Early detection through genetic testing is essential for proper management and treatment planning.
What the NOTCH3 Mutation Detection Test Measures
Our advanced NOTCH3 Mutation Detection CADASIL Test utilizes cutting-edge molecular diagnostic techniques to identify specific genetic mutations associated with this neurological condition:
- Comprehensive Gene Analysis: Full sequencing of the NOTCH3 gene to detect all known pathogenic variants
- Mutation Detection: Identifies missense mutations in epidermal growth factor-like repeat domains
- Pathogenic Variant Identification: Detects mutations that lead to abnormal protein accumulation in cerebral blood vessels
- Inheritance Pattern Confirmation: Helps determine autosomal dominant inheritance patterns
The test employs PCR amplification and DNA sequencing technologies to provide accurate and reliable results, ensuring comprehensive coverage of all critical regions within the NOTCH3 gene.
Who Should Consider NOTCH3 Mutation Testing
This genetic test is particularly important for individuals experiencing symptoms suggestive of CADASIL or those with a family history of the condition:
Clinical Indications Include:
- Recurrent transient ischemic attacks (TIAs) or strokes before age 60
- Migraine headaches with aura, particularly with unusual symptoms
- Progressive cognitive decline or early-onset dementia
- Mood disorders, depression, or apathy without clear cause
- Family history of stroke, dementia, or migraine in multiple generations
- White matter changes on brain MRI suggestive of small vessel disease
- Unexplained neurological symptoms in young or middle-aged adults
High-Risk Populations:
- Individuals with first-degree relatives diagnosed with CADASIL
- Patients with unexplained cerebral small vessel disease
- Those with characteristic MRI findings without other explanations
- Young stroke patients without traditional risk factors
Benefits of NOTCH3 Mutation Detection Testing
Undergoing NOTCH3 mutation testing provides numerous advantages for patients and their families:
- Definitive Diagnosis: Provides conclusive evidence of CADASIL, eliminating diagnostic uncertainty
- Early Intervention: Enables proactive management strategies before significant neurological damage occurs
- Family Planning Guidance: Informs reproductive decisions and provides genetic counseling opportunities
- Personalized Treatment: Guides appropriate medical management and preventive measures
- Risk Assessment: Helps identify at-risk family members who may benefit from testing
- Psychological Relief: Reduces anxiety associated with unexplained symptoms and provides clarity
- Research Participation: May qualify patients for clinical trials and emerging treatments
Understanding Your Test Results
Interpreting NOTCH3 mutation detection results requires careful consideration by healthcare professionals:
Possible Results Include:
- Positive Result: Identification of a pathogenic NOTCH3 mutation confirms CADASIL diagnosis
- Negative Result: No mutation detected, significantly reducing likelihood of CADASIL
- Variant of Uncertain Significance: Genetic change identified with unknown clinical impact
- No Mutation Found: Comprehensive testing reveals no known pathogenic variants
Clinical Implications:
- Positive results typically indicate autosomal dominant inheritance pattern
- Negative results in symptomatic individuals may warrant additional neurological evaluation
- Genetic counseling is recommended for all positive results and family members
- Results should be interpreted in context of clinical symptoms and family history
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $326 |
| Regular Price | $450 |
Turnaround Time:
Sample received by Monday 11:00 AM | Report delivered by Friday
Sample Requirements:
- 4 mL (2 mL minimum) whole blood from 1 Lavender Top (EDTA) tube
- Ship refrigerated – DO NOT FREEZE
- Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified collection facilities ensures accessible testing for patients nationwide.
Book Your NOTCH3 Mutation Detection Test Today
Take the first step toward definitive diagnosis and personalized care management. Our experienced genetic counselors and neurological specialists are available to discuss your testing needs and provide comprehensive support throughout the process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your NOTCH3 Mutation Detection CADASIL Test and receive professional genetic counseling services.
Early detection through genetic testing can significantly impact treatment outcomes and quality of life for individuals at risk for CADASIL. Don’t wait – take control of your neurological health with definitive genetic testing from our accredited molecular diagnostics laboratory.
