ADNP Gene Mental Retardation Autosomal Dominant Type 28 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Development Disorders
The ADNP Gene Mental Retardation Autosomal Dominant Type 28 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for neurological development disorders. This advanced testing methodology provides families and healthcare providers with definitive answers about genetic conditions affecting cognitive development and neurological function.
What is ADNP-Related Neurodevelopmental Disorder?
ADNP syndrome, also known as Helsmoortel-Van der Aa syndrome, is a rare genetic condition caused by mutations in the ADNP gene located on chromosome 20. This gene plays a crucial role in brain development and function, particularly in neuronal differentiation and synaptic formation. When mutations occur in this gene, they disrupt normal brain development, leading to intellectual disability, autism spectrum features, and various neurological symptoms.
What Does This Test Measure and Detect?
Our comprehensive NGS genetic test specifically targets the ADNP gene to identify pathogenic variants responsible for autosomal dominant mental retardation type 28. The test detects:
- Single nucleotide variants (SNVs) throughout the ADNP gene
- Small insertions and deletions (indels)
- Copy number variations affecting the ADNP gene region
- Novel mutations not previously documented in genetic databases
- Both inherited and de novo (new) genetic mutations
The test utilizes state-of-the-art Next Generation Sequencing technology, providing unparalleled accuracy and comprehensive coverage of the entire ADNP gene coding region and flanking sequences.
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is recommended for individuals presenting with the following symptoms or clinical features:
- Unexplained intellectual disability or developmental delay
- Autism spectrum disorder features
- Speech and language impairments
- Motor coordination difficulties
- Characteristic facial features (prominent forehead, wide-set eyes)
- Feeding difficulties in infancy
- Sleep disturbances and behavioral challenges
- Family history of similar neurological conditions
- Unexplained seizures or epilepsy
- Muscle tone abnormalities (hypotonia)
Family Planning Considerations
Families with a history of ADNP-related disorders or unexplained developmental conditions should consider genetic testing for accurate diagnosis and informed reproductive planning.
Benefits of ADNP Genetic Testing
Medical and Personal Advantages
- Definitive Diagnosis: Provides clear answers about the genetic cause of neurological symptoms
- Personalized Treatment: Enables targeted interventions and management strategies
- Family Planning: Informs reproductive decisions and recurrence risk assessment
- Early Intervention: Facilitates timely access to appropriate therapies and support services
- Research Contribution: Helps advance scientific understanding of neurodevelopmental disorders
- Psychological Relief: Reduces diagnostic uncertainty and provides closure for families
- Educational Planning: Guides appropriate educational accommodations and support
Understanding Your Test Results
Interpretation Guidelines
Our certified genetic counselors provide comprehensive result interpretation:
- Positive Result: Indicates a pathogenic mutation in the ADNP gene confirming the diagnosis
- Negative Result: Suggests ADNP mutations are not the cause of symptoms, but doesn’t rule out other genetic conditions
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important information for family members and future reproductive planning
Post-Test Support
All positive results include detailed genetic counseling sessions to discuss implications, management recommendations, and family testing options.
Test Details and Pricing
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | ADNP Gene Mental Retardation Autosomal Dominant Type 28 NGS Genetic DNA Test | – |
| Discount Price | Limited time special offer | $500 |
| Regular Price | Standard pricing | $700 |
| Turnaround Time | Comprehensive analysis and reporting | 3-4 Weeks |
| Sample Type | Blood sample collection | Included |
| Genetic Counseling | Pre-test and post-test sessions | Included |
Nationwide Testing Availability
We have conveniently located testing centers across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our certified phlebotomists and genetic counselors are available to provide comprehensive testing services at locations near you.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological symptoms continue to impact your family’s quality of life. Our ADNP genetic testing provides the answers you need to make informed healthcare decisions and access appropriate support services.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and testing appointment. Our compassionate team is ready to guide you through the testing process and provide the comprehensive support your family deserves.
Early genetic diagnosis can make a significant difference in management outcomes and quality of life. Take control of your genetic health journey with our specialized neurological genetics testing services.
