Chr 15q11 Gene Angelman Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Angelman Syndrome
The Chr 15q11 Gene Angelman Syndrome NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering unparalleled accuracy in detecting one of the most complex neurodevelopmental disorders. Angelman Syndrome affects approximately 1 in 12,000 to 20,000 individuals and requires sophisticated genetic analysis for proper diagnosis and management.
What is Angelman Syndrome?
Angelman Syndrome is a rare genetic disorder primarily affecting the nervous system, characterized by severe developmental delays, speech impairment, movement and balance problems, and a unique behavioral profile. The condition results from abnormalities in the UBE3A gene located on chromosome 15q11.2-q13, which plays a crucial role in brain development and function.
What This Test Measures and Detects
Our advanced NGS (Next-Generation Sequencing) technology provides comprehensive analysis of the critical 15q11 chromosomal region, detecting:
- Deletions in the maternal chromosome 15q11.2-q13 region (70-75% of cases)
- Paternal uniparental disomy (UPD) of chromosome 15 (2-3% of cases)
- Imprinting defects affecting gene expression (3-5% of cases)
- UBE3A gene mutations (10% of cases)
- Chromosomal rearrangements and microdeletions
Who Should Consider This Test
Clinical Indications and Symptoms
This test is recommended for individuals presenting with the following symptoms:
- Developmental delay noticeable by 6-12 months of age
- Severe speech impairment with minimal or no use of words
- Movement or balance disorders including ataxia and tremors
- Frequent laughter and smiling with an apparent happy demeanor
- Seizures, typically beginning between 2-3 years of age
- Microcephaly (small head size)
- Sleep disturbances and feeding difficulties in infancy
- Hyperactive behavior with short attention span
- Fascination with water and crinkly materials
Benefits of Taking the Test
Early and accurate diagnosis through our comprehensive genetic testing provides numerous advantages:
- Accurate Diagnosis: Eliminates diagnostic uncertainty and prevents misdiagnosis
- Personalized Treatment: Enables targeted therapeutic interventions and management strategies
- Genetic Counseling: Provides crucial information for family planning and recurrence risk assessment
- Early Intervention: Facilitates timely access to specialized therapies and educational support
- Medical Management: Guides appropriate seizure control and sleep management protocols
- Family Support: Connects families with specialized support networks and resources
Understanding Your Test Results
Interpretation Guidance
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Confirms Angelman Syndrome diagnosis, allowing for immediate implementation of appropriate care plans
- Negative Result: Excludes Angelman Syndrome, directing further diagnostic evaluation toward other conditions
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Provides information about recurrence risks for future pregnancies
All results are reviewed by board-certified genetic specialists and accompanied by detailed genetic counseling to ensure complete understanding and appropriate next steps.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | Chr 15q11 Gene Angelman Syndrome 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 |
| Methodology | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree
- Documentation of affected family members with similar symptoms
- Informed consent for genetic testing
Nationwide Accessibility
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 more cities. Our network ensures that advanced genetic testing is accessible to families nationwide.
Take the Next Step Toward Diagnosis
Don’t let diagnostic uncertainty delay appropriate care and support. Our specialized team of genetic counselors and neurologists is ready to help you navigate this important testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book the Chr 15q11 Gene Angelman Syndrome NGS Genetic DNA Test.
Early diagnosis through comprehensive genetic testing can make a significant difference in quality of life and treatment outcomes. Take control of your genetic health journey with our expert team and state-of-the-art diagnostic capabilities.
