ERCC6 Gene De Sanctis-Cacchione Syndrome NGS Genetic DNA Test
Introduction
The ERCC6 Gene De Sanctis-Cacchione Syndrome NGS Genetic DNA Test is a state-of-the-art diagnostic tool designed to detect mutations in the ERCC6 gene, which are associated with De Sanctis-Cacchione syndrome. This genetic disorder primarily affects children and is characterized by neurological and physical abnormalities.
Importance of the Test
Understanding your genetic predisposition is essential for early diagnosis and management of potential health issues. This test employs Next Generation Sequencing (NGS) technology, allowing for comprehensive analysis of the ERCC6 gene, which plays a critical role in DNA repair mechanisms.
What the Test Measures
The ERCC6 Gene De Sanctis-Cacchione Syndrome NGS Genetic DNA Test measures specific mutations in the ERCC6 gene. It aims to identify genetic variations that may lead to dysmorphology and other related health conditions.
Who Should Consider This Test
This test is recommended for individuals who exhibit symptoms such as:
- Developmental delays
- Neurological symptoms
- Physical abnormalities
Additionally, family history of De Sanctis-Cacchione syndrome or related genetic disorders may warrant consideration of this test.
Benefits of Taking the Test
- Early identification of genetic disorders
- Informed family planning and management options
- Access to targeted therapies and interventions
- Peace of mind through understanding genetic health
Understanding Your Results
Results from the ERCC6 Gene De Sanctis-Cacchione Syndrome NGS Genetic DNA Test will provide insights into the presence of mutations. It is crucial to discuss these results with a healthcare provider or genetic counselor to understand their implications fully.
Test Pricing
| Test Name | Discount Price (NGN) | Regular Price (NGN) |
|---|---|---|
| ERCC6 Gene De Sanctis-Cacchione Syndrome NGS Genetic DNA Test | 400,000 | 560,000 |
Turnaround time for results is approximately 3 to 4 weeks. The sample type required for this test can be blood, extracted DNA, or one drop of blood on an FTA card.
Book the Test
To schedule your ERCC6 Gene De Sanctis-Cacchione Syndrome NGS Genetic DNA Test, please contact us at +2348077798758. Our team is here to assist you with any questions and guide you through the process.
Pre-test instructions include a clinical history of the patient and a genetic counseling session to draw a pedigree chart of affected family members.
