Chromosome 22q13.3 Gene Phelan-McDermid Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Developmental Disorders
The Chromosome 22q13.3 Phelan-McDermid Syndrome NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for neurodevelopmental disorders. This advanced genetic screening utilizes next-generation sequencing (NGS) technology to precisely analyze the SHANK3 gene located on chromosome 22q13.3, providing critical insights for families and healthcare providers managing complex developmental conditions.
What This Test Detects and Measures
Our specialized NGS genetic test focuses on identifying:
- Deletions or mutations in the SHANK3 gene on chromosome 22q13.3
- Point mutations, frameshift mutations, and copy number variations
- Genetic abnormalities associated with Phelan-McDermid syndrome
- Specific gene variants linked to neurodevelopmental disorders
Clinical Significance of SHANK3 Gene Analysis
The SHANK3 gene plays a crucial role in synaptic function and neuronal communication. Mutations in this gene disrupt normal brain development and function, leading to the characteristic features of Phelan-McDermid syndrome. Our test provides comprehensive coverage of the entire SHANK3 coding region and adjacent regulatory elements.
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with:
- Global developmental delays in early childhood
- Autism spectrum disorder features
- Significant speech and language delays
- Intellectual disability of unknown cause
- Neurological symptoms including seizures or hypotonia
- Regression of developmental milestones
- Dysmorphic facial features
- Behavioral challenges and social communication difficulties
Early Detection Benefits
Early genetic diagnosis enables timely intervention and personalized treatment planning. Children with confirmed Phelan-McDermid syndrome benefit from targeted therapies addressing their specific developmental needs.
Key Benefits of Genetic Testing
- Accurate Diagnosis: Provides definitive genetic confirmation of Phelan-McDermid syndrome
- Personalized Care: Enables development of targeted intervention strategies
- Family Planning: Offers recurrence risk information for future pregnancies
- Treatment Guidance: Informs medication choices and therapeutic approaches
- Prognostic Information: Helps understand potential developmental trajectory
- Research Contribution: Advances understanding of neurodevelopmental disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results:
Positive Result Interpretation
A positive result indicates the presence of a SHANK3 gene mutation consistent with Phelan-McDermid syndrome. This confirmation enables:
- Development of specialized educational and therapeutic plans
- Monitoring for associated medical conditions
- Family genetic counseling and testing
- Connection with support networks and resources
Negative Result Interpretation
A negative result suggests that Phelan-McDermid syndrome is unlikely to be the cause of symptoms. This information helps:
- Guide further diagnostic evaluation for other genetic conditions
- Focus on alternative treatment approaches
- Provide reassurance when appropriate
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | Chromosome 22q13.3 Gene Phelan-McDermid 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before testing, we require:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree
- Documentation of developmental milestones and symptoms
- Informed consent for genetic testing
Nationwide Testing Availability
We have testing facilities and collection centers across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, and many other cities. Our network ensures convenient access to genetic testing services regardless of your location.
Take the Next Step Toward Answers
If you or your child are experiencing developmental challenges that suggest Phelan-McDermid syndrome, our comprehensive genetic test can provide the answers you need. Early diagnosis leads to better outcomes and more targeted interventions.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and testing appointment. Our experienced genetic counselors are available to answer your questions and guide you through the testing process.
Don’t wait to get the genetic information that could transform your approach to care and treatment. Book your Chromosome 22q13.3 Phelan-McDermid Syndrome NGS Genetic DNA Test today and take the first step toward understanding and managing this complex condition.
