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BDNF Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test Cost 20000 Rs
BDNF Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test Details
BDNF Gene and Central Hypoventilation Syndrome: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost
Central hypoventilation syndrome (CHS) is a rare genetic disorder that affects breathing during sleep and wakefulness. It is also known as Ondine's curse, named after a mythological character who was cursed to forget to breathe. CHS is caused by mutations in the BDNF gene, which provides instructions for making a protein that helps to regulate breathing. In this blog, we will discuss the symptoms, diagnosis, and NGS genetic DNA test cost for CHS.
Symptoms of CHS
The hallmark symptom of CHS is hypoventilation, which is an abnormally slow or shallow breathing pattern. This can occur during sleep or wakefulness and can lead to low oxygen levels in the blood (hypoxemia) and high carbon dioxide levels (hypercapnia). Other symptoms of CHS include:
- Difficulty breathing
- Shortness of breath
- Fatigue
- Difficulty staying awake
- Difficulty eating and swallowing
- Delayed growth and development
CHS can also cause sudden death in some cases, particularly during sleep. Therefore, it is important to diagnose and manage the condition as early as possible.
Diagnosis of CHS
CHS is diagnosed based on a combination of clinical features and genetic testing. The clinical features may include hypoventilation, abnormal breathing patterns, and low oxygen levels in the blood. Genetic testing can confirm the diagnosis by identifying mutations in the BDNF gene.
NGS genetic DNA testing is a powerful tool for identifying genetic mutations associated with CHS. NGS stands for next-generation sequencing, which is a high-throughput sequencing technology that can analyze large amounts of DNA in a short amount of time. NGS testing can identify mutations in the BDNF gene with high accuracy and sensitivity, making it a valuable tool for diagnosing CHS.
NGS Genetic DNA Test Cost
The cost of NGS genetic DNA testing for CHS in India is approximately INR 20,000. This cost may vary depending on the specific testing laboratory and the extent of the genetic analysis performed. However, NGS testing is generally considered to be a cost-effective and efficient method for diagnosing CHS.
Conclusion
Central hypoventilation syndrome is a rare genetic disorder that can cause breathing difficulties and other symptoms. It is caused by mutations in the BDNF gene, which can be identified through NGS genetic DNA testing. The cost of this testing in India is around INR 20,000, making it a valuable tool for diagnosing and managing CHS. If you or someone you know is experiencing symptoms of CHS, it is important to seek medical attention and consider genetic testing to confirm the diagnosis.
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