SMARCE1 Gene Coffin-Siris Syndrome SMARCE1 Related NGS Genetic DNA Test
Introduction
The SMARCE1 Gene Coffin-Siris Syndrome SMARCE1 Related NGS Genetic DNA Test is a specialized genetic test designed to identify mutations in the SMARCE1 gene, which are associated with Coffin-Siris syndrome. This condition is characterized by distinct physical features and developmental delays. Understanding if you or your child carries this mutation can provide critical information for diagnosis, management, and family planning.
What the Test Measures
This test utilizes Next Generation Sequencing (NGS) technology to detect specific mutations in the SMARCE1 gene. By analyzing the genetic material, we can ascertain whether an individual is a carrier of the gene associated with Coffin-Siris syndrome.
Who Should Consider This Test
Individuals who may benefit from this test include:
- Children displaying symptoms of Coffin-Siris syndrome, such as developmental delays, distinctive facial features, and other associated anomalies.
- Parents with a family history of Coffin-Siris syndrome or other genetic disorders.
- Individuals undergoing genetic counseling for family planning purposes.
Benefits of Taking the Test
Taking the SMARCE1 Gene Coffin-Siris syndrome test provides several benefits:
- Accurate diagnosis of genetic conditions.
- Informed family planning decisions.
- Access to tailored medical care and interventions.
- Peace of mind for families concerned about genetic disorders.
Understanding Your Results
Results from the SMARCE1 Gene Coffin-Siris syndrome test will be reviewed by a genetic counselor. They will help interpret the findings and discuss the implications for you and your family. It is essential to understand that not all mutations will lead to symptoms, and a comprehensive understanding of the results is crucial for making informed decisions.
Test Pricing
| Test Name | Discount Price (NGN) | Regular Price (NGN) |
|---|---|---|
| SMARCE1 Gene Coffin-Siris Syndrome SMARCE1 Related NGS Genetic DNA Test | 400,000 | 560,000 |
How to Book the Test
To book the SMARCE1 Gene Coffin-Siris Syndrome test, please contact us at +2348077798758. Our team is ready to assist you with scheduling your appointment and providing additional information on pre-test instructions.
Additional Information
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Pre-Test Instructions: A clinical history of the patient undergoing the test and a genetic counseling session to draw a pedigree chart of affected family members is required.
This test falls under the Pediatrics specialty, within the Genetics department, and is crucial for diagnosing dysmorphology conditions.
