EP300 Gene Rubinstein-Taybi Syndrome NGS Genetic DNA Test
Introduction
The EP300 Gene Rubinstein-Taybi Syndrome NGS Genetic DNA Test is a cutting-edge diagnostic examination designed to identify mutations in the EP300 gene, which are associated with Rubinstein-Taybi syndrome. This genetic condition is characterized by physical abnormalities, developmental delays, and an increased risk of certain health issues. Early detection through this test is crucial for effective management and treatment planning.
What the Test Measures
This test specifically detects mutations in the EP300 gene, which plays a vital role in regulating gene expression and cellular functions. By utilizing Next-Generation Sequencing (NGS) technology, the test provides a comprehensive analysis of the gene, ensuring accurate identification of any genetic anomalies.
Who Should Consider This Test
Individuals who exhibit symptoms of Rubinstein-Taybi syndrome, such as:
- Distinct facial features
- Growth delays
- Intellectual disabilities
- Congenital heart defects
- Other physical abnormalities
Additionally, those with a family history of the syndrome or related genetic conditions should consider this test for informed family planning and management.
Benefits of Taking the Test
- Early diagnosis enables timely intervention and management of symptoms.
- Informed decision-making regarding family planning.
- Access to specialized care and support services.
- Understanding potential health risks associated with the syndrome.
Understanding Your Results
Results from the EP300 Gene Rubinstein-Taybi Syndrome NGS Genetic DNA Test will provide insights into whether a mutation is present. A genetic counselor will help interpret the results, discussing implications for health and family planning.
Test Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
EP300 Gene Rubinstein-Taybi Syndrome NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
How to Book the Test
We have branches across all major cities in Kenya, making it easy for you to access our services. To book the EP300 Gene Rubinstein-Taybi Syndrome NGS Genetic DNA Test, please call or WhatsApp us at +254711564616. Our team is ready to assist you with scheduling your appointment and answering any questions you may have.
Don’t wait to get the answers you need for your health and family planning. Book your test today!