Crebbp Gene Rubinstein-Taybi Syndrome NGS Genetic DNA Test
Introduction
The Crebbp Gene Rubinstein-Taybi Syndrome NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify mutations in the CREBBP gene, which are associated with the Rubinstein-Taybi syndrome. This syndrome is characterized by distinctive physical features, growth delays, and intellectual disabilities. Understanding the genetic underpinnings of this condition is crucial for accurate diagnosis and management.
What the Test Measures
This NGS (Next Generation Sequencing) test specifically detects alterations in the CREBBP gene. By analyzing the genetic material, healthcare providers can confirm or rule out the presence of mutations that may lead to Rubinstein-Taybi syndrome.
Who Should Consider This Test?
This test is recommended for individuals exhibiting symptoms of Rubinstein-Taybi syndrome, which may include:
- Distinctive facial features
- Growth retardation
- Intellectual disability
- Broad thumbs and toes
Additionally, family members of individuals diagnosed with this syndrome may consider testing to understand their genetic risk.
Benefits of Taking the Test
Taking the Crebbp Gene Rubinstein-Taybi Syndrome NGS Genetic DNA Test offers several benefits:
- Accurate diagnosis of genetic conditions
- Informed family planning and risk assessment
- Access to tailored management and support strategies
- Peace of mind for affected families
Understanding Your Results
Results from the test will typically be available within 3 to 4 weeks. A genetic counseling session is recommended to help interpret the results and discuss their implications for you and your family. Understanding the results can provide clarity on the condition and guide future healthcare decisions.
Test Pricing
| Price Type | Price (KSh) |
|---|---|
| Discount Price | 40,000 |
| Regular Price | 56,000 |
Book Your Test Today
We have branches across Kenya and offer convenient home sample collection services. To book the Crebbp Gene Rubinstein-Taybi Syndrome NGS Genetic DNA Test or for more information, please call or WhatsApp us at +254711564616.
