CREBBP Gene Rubinstein-Taybi Syndrome NGS Genetic DNA Test
Introduction to the Test
The CREBBP Gene Rubinstein-Taybi Syndrome NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify mutations in the CREBBP gene that are associated with Rubinstein-Taybi Syndrome (RSTS). This syndrome is characterized by distinctive physical features, intellectual disability, and other health issues. Understanding the genetic basis of this condition is crucial for effective management and counseling.
What the Test Measures
This genetic test utilizes Next Generation Sequencing (NGS) technology to analyze the CREBBP gene for specific mutations. It detects alterations that may lead to the development of Rubinstein-Taybi Syndrome, providing critical information for diagnosis and treatment planning.
Who Should Consider This Test
This test is recommended for individuals who exhibit symptoms of Rubinstein-Taybi Syndrome, including:
- Distinctive facial features
- Growth delays
- Intellectual disability
- Other associated health conditions
Additionally, family members of affected individuals may benefit from testing to understand their genetic risks.
Benefits of Taking the Test
Undergoing the CREBBP Gene Rubinstein-Taybi Syndrome NGS Genetic DNA Test offers numerous benefits, including:
- Accurate diagnosis of RSTS
- Informed family planning and genetic counseling
- Understanding potential health risks and management options
- Access to support resources for affected families
Understanding Your Results
Results from the CREBBP Gene Rubinstein-Taybi Syndrome NGS Genetic DNA Test will be provided in a detailed report. A genetic counselor will help interpret the findings, explaining the implications for the individual and their family. It is essential to understand the results in the context of clinical history and symptoms.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| CREBBP Gene Rubinstein-Taybi Syndrome NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking the Test
To book the CREBBP Gene Rubinstein-Taybi Syndrome NGS Genetic DNA Test, please call or WhatsApp us at +2348077798758. Our team is ready to assist you with any questions and guide you through the booking process.
Pre-Test Instructions
Before taking the test, patients should provide a clinical history and may require a genetic counseling session to draw a pedigree chart of family members affected by the CREBBP gene mutations.
Additional Information
Turnaround Time: 3 to 4 weeks
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Specialty: Pediatrics
Department: Genetics
Method: NGS Technology
Disease Type: Dysmorphology
