TCOF1 Gene Treacher Collins Syndrome Type 1 NGS Genetic DNA Test
Introduction
The TCOF1 Gene Treacher Collins Syndrome Type 1 NGS Genetic DNA Test is a pivotal diagnostic tool for identifying Treacher Collins Syndrome, a genetic disorder characterized by craniofacial deformities. This test employs Next-Generation Sequencing (NGS) technology to analyze the TCOF1 gene, which is crucial for normal facial development. Early diagnosis can significantly improve patient management and family planning.
What the Test Measures
This test detects mutations in the TCOF1 gene, which are responsible for Treacher Collins Syndrome. By identifying these genetic alterations, healthcare providers can offer a clearer prognosis and tailored management strategies for affected individuals.
Who Should Consider This Test?
Individuals showing symptoms of Treacher Collins Syndrome, such as:
- Facial dysmorphology
- Hearing loss
- Underdeveloped cheekbones
- Other craniofacial anomalies
Additionally, those with a family history of Treacher Collins Syndrome should consider this test, especially if there are known cases in the family.
Benefits of Taking the Test
- Accurate diagnosis of Treacher Collins Syndrome.
- Informed family planning options.
- Guidance for potential treatment and management strategies.
- Access to genetic counseling for affected families.
Understanding Your Results
Results from the TCOF1 Gene test will indicate whether a mutation in the TCOF1 gene has been detected. A positive result confirms the presence of the syndrome, while a negative result may provide reassurance or suggest further investigation into other potential causes of symptoms.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| TCOF1 Gene Treacher Collins Syndrome Type 1 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking the Test
To book the TCOF1 Gene Treacher Collins Syndrome Type 1 NGS Genetic DNA Test, please contact us at +2348110567037 or visit our website. 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 TCOF1 Gene test, patients are advised to have a clinical history assessment and a genetic counseling session to draw a pedigree chart of affected family members. This is vital for understanding the genetic implications of the test.
Sample Type
The test can be conducted using:
- Blood
- Extracted DNA
- One drop of blood on FTA card
Turnaround Time
The results of the TCOF1 Gene Treacher Collins Syndrome Type 1 NGS Genetic DNA Test are typically available within 3 to 4 weeks.
