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 groundbreaking diagnostic tool designed to identify genetic mutations associated with Treacher Collins syndrome type 2. This condition primarily affects the development of facial bones and tissues, leading to distinct facial features and possible hearing loss. Early diagnosis is crucial for managing symptoms effectively and providing appropriate care.
What the Test Measures
This test utilizes Next-Generation Sequencing (NGS) technology to analyze the POLR1D gene. By examining this specific gene, the test can detect mutations that may lead to Treacher Collins syndrome type 2, allowing for a comprehensive understanding of the genetic factors involved.
Who Should Consider This Test?
Individuals who should consider the POLR1D Gene Treacher Collins Syndrome Type 2 NGS Genetic DNA Test include:
- Those with a family history of Treacher Collins syndrome or related conditions.
- Individuals exhibiting symptoms such as facial asymmetry, hearing loss, or other dysmorphic features.
- Parents who have children with physical characteristics associated with this syndrome.
Benefits of Taking the Test
- Provides clarity on genetic predisposition to Treacher Collins syndrome type 2.
- Facilitates informed decision-making regarding family planning and management of the condition.
- Enhances understanding of potential health risks and necessary interventions.
Understanding Your Results
After the test, results will be provided with guidance on interpretation. A genetic counseling session will help explain the findings and their implications for you and your family. This ensures a comprehensive understanding of the results and the next steps.
Test Pricing
| Price Type | Amount (NGN) |
|---|---|
| Discount Price | 400,000 NGN |
| Regular Price | 560,000 NGN |
Booking the Test
To book the POLR1D Gene Treacher Collins Syndrome Type 2 NGS Genetic DNA Test, please call or WhatsApp us at +2348077798758. Our team is ready to assist you in scheduling your appointment and answering any questions you may have.
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 who is going for the test is required. A genetic counseling session will be conducted to draw a pedigree chart of family members affected by the POLR1D gene.
Specialty: Pediatrics | Department: Genetics | Method: NGS Technology | Disease Type: Dysmorphology
