ERCC2 Gene Trichothiodystrophy NGS Genetic DNA Test
Introduction to the Test
The ERCC2 Gene Trichothiodystrophy NGS Genetic DNA Test is a specialized diagnostic tool that utilizes Next-Generation Sequencing (NGS) technology to analyze the ERCC2 gene. This test is significant in identifying genetic mutations that lead to Trichothiodystrophy, a rare disorder characterized by brittle hair, skin abnormalities, and other systemic issues.
What the Test Measures
This test specifically detects mutations in the ERCC2 gene, which is crucial for DNA repair mechanisms. By identifying these mutations, healthcare providers can better understand the genetic basis of Trichothiodystrophy in affected individuals.
Who Should Consider This Test?
Individuals who exhibit symptoms such as:
- Brittle hair and skin
- Growth retardation
- Photosensitivity
- Developmental delays
Additionally, those with a family history of Trichothiodystrophy or related genetic disorders may benefit from this test. A genetic counseling session is recommended to discuss the implications of the test results.
Benefits of Taking the Test
- Accurate diagnosis of Trichothiodystrophy
- Informed decision-making regarding treatment options
- Understanding hereditary patterns and risks for family members
- Access to specialized care from dermatologists and geneticists
Understanding Your Results
Test results will indicate whether mutations in the ERCC2 gene are present. A genetic counselor will assist in interpreting these results and discussing potential next steps, including management and treatment options.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| ERCC2 Gene Trichothiodystrophy NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Test Logistics
The turnaround time for results is approximately 3 to 4 weeks. The test requires a sample type of blood or extracted DNA, or one drop of blood on an FTA card. It is essential to provide a clinical history during the pre-test instructions.
Book Your Test Today!
We have branches across Kenya and offer home sample collection services. For more information or to schedule your test, please contact us at +254711564616. Don’t wait; take the first step towards understanding your genetic health!
