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EDN3 Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test Cost 20000 Rs
EDN3 Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test Details
EDN3 Gene and Central Hypoventilation Syndrome: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost
Central hypoventilation syndrome (CHS) is a rare neurological disorder that affects breathing. It is also known as Ondine's curse, named after a mythical character who was cursed to keep breathing consciously, or else he would stop breathing altogether. CHS is caused by the dysfunction of the autonomic nervous system, which controls involuntary functions such as breathing, heart rate, and digestion.
CHS can be either acquired or congenital. Congenital CHS is caused by genetic mutations that affect the development of the autonomic nervous system, particularly the EDN3 gene. The EDN3 gene provides instructions for making a protein called endothelin-3, which is involved in the development of the nervous system. Mutations in this gene can disrupt the formation of certain nerve cells, leading to CHS.
Symptoms of CHS
The symptoms of CHS can vary depending on the severity of the condition. Some common symptoms include:
- Difficulty breathing, especially during sleep
- Irregular breathing patterns
- Difficulty regulating body temperature
- Low heart rate
- Difficulty swallowing
Diagnosis of CHS
Diagnosing CHS can be challenging, as it is a rare disorder and the symptoms can be similar to other breathing disorders. A definitive diagnosis can be made through genetic testing, which can identify mutations in the EDN3 gene. Other tests that may be performed include:
- Sleep studies to monitor breathing patterns during sleep
- Electrocardiogram (ECG) to measure heart rate and rhythm
- X-rays or CT scans to look for abnormalities in the lungs or chest
- Blood tests to rule out other conditions
NGS Genetic DNA Test Cost in India
Next-generation sequencing (NGS) is a powerful genetic testing technology that can analyze multiple genes at once. NGS testing for CHS can identify mutations in the EDN3 gene and other genes associated with the condition. The cost of NGS genetic testing in India can vary depending on the provider and the specific test ordered. On average, the cost of NGS testing for CHS in India is around INR 20,000.
Conclusion
Central hypoventilation syndrome is a rare disorder that can be caused by genetic mutations in the EDN3 gene. Symptoms can include difficulty breathing, irregular breathing patterns, low heart rate, and difficulty regulating body temperature. Diagnosis can be made through genetic testing and other tests to rule out other conditions. NGS genetic testing can identify mutations in the EDN3 gene and other genes associated with CHS, with an average cost of INR 20,000 in India.
If you suspect that you or a loved one may have CHS, it is important to seek medical attention as soon as possible. Genetic testing can provide a definitive diagnosis and help guide treatment options. DNA Labs India offers a range of genetic testing services, including NGS testing for CHS. Contact us today to learn more.
