Chr 22q133 Gene PhelanMcDermid Syndrome NGS Genetic DNA Test
Introduction
The Chr 22q133 Gene PhelanMcDermid Syndrome NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to evaluate genetic variations associated with Phelan-McDermid syndrome. This syndrome is characterized by developmental delays, intellectual disabilities, and distinctive physical features. Utilizing Next Generation Sequencing (NGS) technology, this test allows for a comprehensive analysis of the 22q13.3 region of the genome, providing critical insights into the genetic underpinnings of this condition.
What the Test Measures
This test specifically measures genetic alterations within the 22q13.3 region, which can lead to Phelan-McDermid syndrome. By identifying deletions, duplications, or other mutations in this gene region, healthcare providers can better understand the genetic factors contributing to a patient’s symptoms.
Who Should Consider This Test
Individuals who may benefit from the Chr 22q133 Gene PhelanMcDermid Syndrome NGS Genetic DNA Test include:
- Patients exhibiting developmental delays or intellectual disabilities.
- Individuals with a family history of Phelan-McDermid syndrome.
- Patients showing physical characteristics associated with dysmorphology.
Benefits of Taking the Test
Taking the Chr 22q133 Gene PhelanMcDermid Syndrome NGS Genetic DNA Test offers several benefits:
- Accurate diagnosis of genetic conditions, leading to appropriate management strategies.
- Informed family planning and genetic counseling options.
- Access to targeted therapies and interventions based on genetic findings.
Understanding Your Results
Once the test is completed, results will be interpreted by a genetic specialist. Understanding these results is crucial for making informed health decisions. A positive result may indicate the presence of a genetic variant associated with Phelan-McDermid syndrome, while a negative result may provide reassurance. Always consult with a healthcare provider for personalized guidance based on your results.
Test Details and Pricing
| Test Name | Discount Price (NGN) | Regular Price (NGN) |
|---|---|---|
| Chr 22q133 Gene PhelanMcDermid Syndrome NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking Information
To book the Chr 22q133 Gene PhelanMcDermid Syndrome NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you in scheduling your appointment and answering any questions you may have.
Additional Information
Turnaround time for results is approximately 3 to 4 weeks. Please ensure you provide a clinical history and undergo a genetic counseling session to discuss the family history relevant to this test.
