CENPJ Gene Seckel Syndrome Type 4 NGS Genetic DNA Test
Introduction to the CENPJ Gene Seckel Syndrome Type 4 NGS Genetic DNA Test
The CENPJ Gene Seckel Syndrome Type 4 NGS Genetic DNA Test is a state-of-the-art diagnostic tool designed to detect mutations in the CENPJ gene, which are associated with Seckel syndrome, a rare genetic disorder characterized by growth retardation and distinctive facial features. Understanding the genetic basis of this condition is crucial for effective management and counseling of affected individuals and their families.
What the Test Measures
This genetic test employs Next Generation Sequencing (NGS) technology to analyze the CENPJ gene, identifying any pathogenic variants that could lead to Seckel syndrome. By focusing on this specific gene, the test provides detailed insights that can guide clinical decision-making.
Who Should Consider This Test?
Individuals who may benefit from the CENPJ Gene Seckel Syndrome Type 4 NGS Genetic DNA Test include:
- Patients exhibiting symptoms of Seckel syndrome, such as microcephaly, growth delays, and dysmorphic features.
- Families with a history of genetic disorders, particularly those related to dysmorphology.
- Individuals seeking genetic counseling to understand their risk of passing on genetic conditions.
Benefits of Taking the Test
Taking the CENPJ Gene Seckel Syndrome Type 4 NGS Genetic DNA Test offers several benefits:
- Accurate identification of genetic mutations, aiding in diagnosis.
- Informed family planning and risk assessment for future pregnancies.
- Access to tailored management and treatment options for affected individuals.
- Support for psychological and emotional needs through genetic counseling.
Understanding Your Results
Results from the CENPJ Gene Seckel Syndrome Type 4 NGS Genetic DNA Test will be interpreted by qualified geneticists. A positive result indicates the presence of a mutation in the CENPJ gene, while a negative result suggests no identified mutations. It is essential to discuss results with a healthcare provider to understand their implications fully.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| CENPJ Gene Seckel Syndrome Type 4 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking the Test
To book the CENPJ Gene Seckel Syndrome Type 4 NGS Genetic DNA Test, please contact us at +2348110567037. Our team is ready to assist you with the booking process and provide any additional information you may need.
Pre-Test Instructions
Before undergoing the test, patients should prepare by:
- Providing a clinical history relevant to the condition.
- Participating in a genetic counseling session to create a pedigree chart of affected family members.
Turnaround time for results is approximately 3 to 4 weeks, and samples can be collected via blood or extracted DNA, or one drop of blood on an FTA card.
