EDN3 Gene Central Hypoventilation Syndrome Congenital NGS Genetic DNA Test
The EDN3 Gene Central Hypoventilation Syndrome Congenital NGS Genetic DNA Test is a pivotal diagnostic tool that assesses mutations in the EDN3 gene, which are linked to congenital central hypoventilation syndrome (CCHS). This syndrome can lead to severe respiratory issues, particularly during sleep, making early diagnosis and intervention essential for affected individuals.
What the Test Measures/Detects
This test specifically detects genetic mutations in the EDN3 gene that may contribute to the development of CCHS. By identifying these mutations, healthcare providers can better understand the genetic factors influencing a patient’s respiratory function.
Who Should Consider This Test?
Individuals who may benefit from this test include:
- Patients presenting with symptoms of respiratory distress, particularly during sleep.
- Individuals with a family history of congenital central hypoventilation syndrome.
- Patients with dysmorphology or related syndromic features.
Benefits of Taking the Test
Taking the EDN3 Gene Central Hypoventilation Syndrome Congenital NGS Genetic DNA Test provides numerous benefits, including:
- Accurate identification of genetic mutations that may affect respiratory health.
- Informed decision-making regarding treatment and management options.
- Enhanced understanding of family risk and potential genetic counseling opportunities.
Understanding Your Results
Results from the EDN3 Gene test will be provided within 3 to 4 weeks. A positive result indicates the presence of mutations associated with CCHS, while a negative result suggests no detectable mutations. It is important to discuss your results with a healthcare provider to understand their implications fully.
Test Name and Price
| Test Name | Discount Price (NGN) | Regular Price (NGN) |
|---|---|---|
| EDN3 Gene Central Hypoventilation Syndrome Congenital NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
To book the EDN3 Gene Central Hypoventilation Syndrome Congenital NGS Genetic DNA Test, please call or WhatsApp us at +2348077798758. Ensure you have a clinical history ready for review and consider a genetic counseling session to better understand your family’s genetic health.
