PHOX2B Gene Central Hypoventilation Syndrome with or without Hirschsprung Disease NGS Genetic DNA Test
Introduction
The PHOX2B Gene Central Hypoventilation Syndrome with or without Hirschsprung Disease NGS Genetic DNA Test is a vital diagnostic tool that helps identify genetic variations linked to central hypoventilation syndrome and Hirschsprung disease. These conditions can significantly impact respiratory function and bowel health, making early detection essential for effective management and treatment.
What the Test Measures
This genetic test analyzes the PHOX2B gene using Next Generation Sequencing (NGS) technology. It detects mutations that may predispose individuals to central hypoventilation syndrome, a condition characterized by the inability to breathe normally during sleep, as well as Hirschsprung disease, a congenital condition affecting the large intestine.
Who Should Consider This Test
Individuals who exhibit symptoms such as:
- Severe sleep apnea or difficulty breathing during sleep
- Constipation or bowel obstruction in infants
- Family history of central hypoventilation syndrome or Hirschsprung disease
Should consider undergoing this genetic test. Additionally, those with a clinical history indicative of these conditions are encouraged to seek testing.
Benefits of Taking the Test
- Early identification of genetic predispositions can lead to proactive management.
- Informs treatment decisions and potential interventions.
- Provides valuable information for family planning and genetic counseling.
- Helps in understanding the risks associated with these conditions.
Understanding Your Results
Results from the PHOX2B Gene NGS test will be interpreted by genetic specialists. A positive result indicates the presence of genetic mutations associated with central hypoventilation syndrome or Hirschsprung disease, while a negative result suggests no identified mutations. It is essential to discuss the implications of your results with a healthcare provider, who can guide you on the next steps.
Test Pricing
| Test Name | Price (NGN) |
|---|---|
| PHOX2B Gene Central Hypoventilation Syndrome with or without Hirschsprung Disease NGS Genetic DNA Test | Discount Price: 400,000 NGN |
| Regular Price: 560,000 NGN |
Booking the Test
To book the PHOX2B Gene Central Hypoventilation Syndrome with or without Hirschsprung Disease NGS Genetic DNA Test, please contact us at +2348077798758 or visit our website. Ensure to bring your clinical history and consider scheduling a genetic counseling session to discuss your family’s health background.
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 with the PHOX2B gene.
- Specialty: Pediatrics
- Department: Genetics
- Method: NGS Technology
- Disease Type: Dysmorphology
