Phox2a Gene Central Hypoventilation Syndrome Congenital NGS Genetic DNA Test
Introduction
The Phox2a Gene Central Hypoventilation Syndrome Congenital NGS Genetic DNA Test is a crucial diagnostic tool designed to detect mutations in the PHOX2A gene. This genetic test is particularly important for identifying congenital central hypoventilation syndrome (CCHS), a condition that affects the automatic control of breathing, especially during sleep. Early diagnosis can significantly improve the management and outcomes for affected individuals.
What the Test Measures
This test analyzes the PHOX2A gene, which plays a vital role in the development of the nervous system and the regulation of respiratory functions. By identifying mutations in this gene, healthcare providers can ascertain the likelihood of CCHS in patients.
Who Should Consider This Test
Individuals who should consider the Phox2a Gene Test include:
- Newborns and children exhibiting symptoms of respiratory distress.
- Patients with a family history of congenital central hypoventilation syndrome.
- Individuals with unexplained sleep apnea or abnormal breathing patterns.
Benefits of Taking the Test
The benefits of undergoing the Phox2a Gene Central Hypoventilation Syndrome Test include:
- Accurate diagnosis of CCHS, leading to timely medical interventions.
- Enhanced understanding of the genetic factors influencing respiratory health.
- Informed decisions regarding management and treatment options for affected individuals.
- Peace of mind for families regarding their child’s health.
Understanding Your Results
Results from the Phox2a Gene Test will provide insights into whether mutations in the PHOX2A gene are present. A genetic counseling session is recommended to help interpret these results and discuss potential implications for family members.
Test Name and Price
| Test Name | Discount Price (NGN) | Regular Price (NGN) |
|---|---|---|
| Phox2a Gene Central Hypoventilation Syndrome Congenital NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
How to Book the Test
To book the Phox2a Gene Central Hypoventilation Syndrome Congenital NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with any questions and guide you through the booking process.
Additional Information
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. Prior to testing, a clinical history of the patient is necessary, and a genetic counseling session is recommended to draw a pedigree chart of family members affected by the PHOX2A gene.
Specialties Involved
This test falls under the Pediatrics specialty, within the Genetics department, utilizing NGS technology to analyze genetic conditions related to dysmorphology.
