CEP290 Gene Meckel Syndrome Type 4 NGS Genetic DNA Test
Introduction to the Test
The CEP290 Gene Meckel Syndrome Type 4 NGS Genetic DNA Test is an advanced diagnostic test that utilizes Next-Generation Sequencing (NGS) technology to analyze the CEP290 gene. This test is crucial for identifying mutations that lead to Meckel syndrome, a rare genetic disorder characterized by a variety of congenital anomalies. Understanding the genetic basis of this syndrome is essential for early diagnosis, management, and family planning.
What the Test Measures
This test specifically detects mutations in the CEP290 gene, which are associated with Meckel syndrome type 4. By analyzing the DNA, the test can confirm or rule out the presence of these genetic mutations, providing valuable information for patients and their families.
Who Should Consider This Test?
Individuals who may benefit from the CEP290 Gene Meckel Syndrome Type 4 NGS Genetic DNA Test include:
- Patients with symptoms suggestive of Meckel syndrome, such as kidney and liver abnormalities.
- Family members of affected individuals, especially if there is a known history of the syndrome.
- Those with risk factors, including a family history of congenital anomalies.
Benefits of Taking the Test
The benefits of undergoing the CEP290 Gene Meckel Syndrome Type 4 NGS Genetic DNA Test include:
- Accurate diagnosis of genetic conditions, leading to better management and treatment options.
- Informed family planning decisions based on genetic risk assessment.
- Access to genetic counseling for understanding the implications of test results.
Understanding Your Results
Results from the CEP290 Gene Meckel Syndrome Type 4 NGS Genetic DNA Test will be provided with a detailed report. It is important to discuss these results with a healthcare professional or genetic counselor to understand their significance, potential implications for health, and next steps.
Test Pricing
Price Type | Amount (KSh) |
---|---|
Discount Price | 40,000 |
Regular Price | 56,000 |
Sample Type and Turnaround Time
The sample required for this test can be:
- Blood
- Extracted DNA
- One drop of blood on FTA Card
The typical turnaround time for results is approximately 3 to 4 weeks.
Pre-Test Instructions
Prior to taking the CEP290 Gene Meckel Syndrome Type 4 NGS Genetic DNA Test, it is essential to:
- Provide a clinical history of the patient.
- Attend a genetic counseling session to create a pedigree chart of family members affected by the CEP290 gene.
Book Your Test Today!
We have branches across Kenya, making it convenient for you to access our services. For home sample collection or to book your test, please call or WhatsApp us at +254713408028. Take the first step towards understanding your genetic health today!