PHOX2A Gene Central Hypoventilation Syndrome: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost
Central hypoventilation syndrome (CHS) is a rare genetic disorder that affects the respiratory system. It is also known as Ondine's curse, named after a mythological figure who was punished by losing the ability to breathe automatically. CHS is caused by a mutation in the PHOX2A gene, which is responsible for the development of the autonomic nervous system.
CHS is a congenital disorder, meaning it is present at birth. The symptoms of CHS usually become apparent in the first few months of life. Infants with CHS may have difficulty breathing, especially during sleep. They may also have a bluish tint to their skin (cyanosis) and a slower heart rate (bradycardia). Infants with CHS may also have difficulty feeding and may require a feeding tube to get proper nutrition.
Diagnosis of CHS involves genetic testing to confirm the presence of a PHOX2A gene mutation. Next-generation sequencing (NGS) is a powerful tool that can be used to sequence the entire PHOX2A gene quickly and accurately. NGS is a type of genetic testing that can detect mutations in multiple genes at once, making it an efficient and cost-effective option for genetic testing.
The cost of NGS genetic DNA testing for CHS in India is typically around INR 20,000. This cost may vary depending on the specific testing facility and any additional testing or counseling that may be required.
If you or a loved one is exhibiting symptoms of CHS, it is important to seek medical attention right away. A diagnosis of CHS can help guide treatment and management of the condition. Additionally, genetic testing can provide valuable information for family planning and genetic counseling.
DNA Labs India is a leading provider of genetic testing services in India. Our team of expert geneticists and counselors can help guide you through the testing process and provide support and guidance every step of the way. Contact us today to learn more about our NGS genetic DNA testing services for CHS.
Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for PHOX2A Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test