POLR1D Gene Treacher Collins Syndrome Type 2 NGS Genetic DNA Test
Introduction
The POLR1D Gene Treacher Collins Syndrome Type 2 NGS Genetic DNA Test is a specialized genetic test that plays a vital role in diagnosing Treacher Collins Syndrome, a condition characterized by facial dysmorphology. This test utilizes Next Generation Sequencing (NGS) technology to provide a comprehensive analysis of the POLR1D gene, which is crucial for proper craniofacial development. Understanding your genetic makeup can help in making informed medical decisions, especially for families with a history of dysmorphology.
What the Test Measures
This test specifically detects mutations in the POLR1D gene, which is associated with Treacher Collins Syndrome Type 2. By analyzing the genetic material, the test can identify any alterations that may lead to the characteristic features of this condition.
Who Should Consider This Test
This test is recommended for:
- Individuals with a family history of Treacher Collins Syndrome.
- Patients exhibiting symptoms such as facial asymmetry, underdeveloped facial bones, or hearing loss.
- Parents considering family planning who want to understand potential genetic risks.
Benefits of Taking the Test
The benefits of the POLR1D Gene Treacher Collins Syndrome Type 2 NGS Genetic DNA Test include:
- Early diagnosis and intervention for affected individuals.
- Informed family planning decisions.
- Access to genetic counseling and support services.
- Peace of mind for families regarding genetic risks.
Understanding Your Results
After the test, results will indicate whether any mutations in the POLR1D gene were detected. A genetic counselor will help interpret these results, providing guidance on the implications for the individual and their family. Understanding your results is crucial for planning any necessary medical interventions or family planning considerations.
Test Information and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| POLR1D Gene Treacher Collins Syndrome Type 2 NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Sample Type and Turnaround Time
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Turnaround Time: 3 to 4 Weeks
Pre-Test Instructions
Prior to the test, patients should undergo a genetic counseling session to draw a pedigree chart of family members affected by Treacher Collins Syndrome. This clinical history is essential for accurate testing.
Book Your Test Today!
We have branches across Kenya and offer home sample collection services. To book your test or for more information, please call or WhatsApp us at +254711564616.
