RAI1 Gene Smith-Magenis Syndrome NGS Genetic DNA Test
Introduction
The RAI1 Gene Smith-Magenis Syndrome NGS Genetic DNA Test is a specialized diagnostic tool that utilizes Next-Generation Sequencing (NGS) technology to identify genetic mutations associated with Smith-Magenis syndrome, a neurological disorder characterized by developmental delays, behavioral issues, and distinctive physical features. Understanding the genetic basis of this syndrome is crucial for effective management and treatment planning.
What the Test Measures
This test specifically detects mutations in the RAI1 gene, which are responsible for Smith-Magenis syndrome. By analyzing the genetic material, the test provides insights into the presence of these mutations, which can confirm the diagnosis and guide further medical care.
Who Should Consider This Test
This test is recommended for individuals exhibiting symptoms of Smith-Magenis syndrome, which may include:
- Developmental delays
- Sleep disturbances
- Behavioral problems
- Distinctive facial features
Additionally, those with a family history of the syndrome or related neurological disorders should consider this test for a comprehensive assessment.
Benefits of Taking the Test
Undergoing the RAI1 Gene Smith-Magenis Syndrome NGS Genetic DNA Test offers several benefits, including:
- Accurate diagnosis, leading to better management of symptoms.
- Guidance for genetic counseling and family planning.
- Access to tailored therapeutic interventions based on genetic findings.
Understanding Your Results
Results from the RAI1 Gene test will indicate the presence or absence of mutations in the RAI1 gene. A positive result confirms the diagnosis of Smith-Magenis syndrome, while a negative result can provide reassurance or suggest further testing if symptoms persist. It is essential to discuss results with a qualified healthcare provider for proper interpretation and guidance.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| RAI1 Gene Smith-Magenis Syndrome NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Branches and Booking
We have branches across all major cities in Kenya, making it convenient for you to access our services. Additionally, we offer a home sample collection service for your comfort. To book the RAI1 Gene Smith-Magenis Syndrome NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.
Test Details
- Turnaround Time: 3 to 4 weeks
- Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
- Pre-test Instructions: Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with RAI1 Gene Smith-Magenis syndrome.
- Specialty: Neurologist
- Department: Genetics
- Method: NGS Technology
- Disease Type: Neurological Disorders
