POLR1C Gene Treacher Collins Syndrome Type 3 NGS Genetic DNA Test
Introduction to the Test
The POLR1C Gene Treacher Collins Syndrome Type 3 NGS Genetic DNA Test is an advanced diagnostic test that utilizes Next Generation Sequencing (NGS) technology to identify mutations in the POLR1C gene. Treacher Collins syndrome is a genetic disorder that affects the development of facial bones and tissues, leading to distinctive facial features and potential hearing loss. Early detection through genetic testing is essential for effective management and intervention.
What the Test Measures
This test specifically measures mutations in the POLR1C gene, which are linked to Treacher Collins syndrome type 3. By analyzing the genetic material, the test can confirm the presence of pathogenic variations that may contribute to the condition.
Who Should Consider This Test?
Individuals who should consider the POLR1C Gene Treacher Collins Syndrome Type 3 NGS Genetic DNA Test include:
- Children or adults displaying clinical features of Treacher Collins syndrome.
- Individuals with a family history of Treacher Collins syndrome.
- Parents planning for children, especially if there is a known genetic predisposition.
Benefits of Taking the Test
The benefits of the POLR1C Gene Treacher Collins Syndrome Type 3 NGS Genetic DNA Test include:
- Accurate diagnosis of Treacher Collins syndrome, facilitating timely medical intervention.
- Informed family planning decisions for prospective parents.
- Personalized medical management and support based on genetic findings.
- Access to genetic counseling for affected families.
Understanding Your Results
Results from the POLR1C Gene Treacher Collins Syndrome Type 3 NGS Genetic DNA Test will be provided in a detailed report. A genetic counselor will help interpret the results, explaining the implications for the individual and their family. Positive results indicate the presence of a mutation, while negative results suggest that no pathogenic variants were detected.
Test Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
POLR1C Gene Treacher Collins Syndrome Type 3 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book Your Test Today!
Don’t wait to gain crucial insights into your genetic health. Book the POLR1C Gene Treacher Collins Syndrome Type 3 NGS Genetic DNA Test today! For more information or to schedule your test, please call or WhatsApp us at +2348077798758.
Test Details
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
- Pre-Test Instructions: Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected by the POLR1C gene.