Short Description

NGS genetic DNA test detecets for variant and mutation detection in ASCL1 gene for Central hypoventilation syndrome, congenital

PreTest Information

Clinical History of Patient who is going for ASCL1 Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ASCL1 Gene Central hypoventilation syndrome, congenital

Detail Description

ASCL1 Gene and Central Hypoventilation Syndrome: Causes, Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Central hypoventilation syndrome (CHS) is a rare genetic disorder that affects the respiratory system. It is also known as Ondine's curse, named after the mythological figure who was cursed to forget to breathe during sleep. CHS is caused by a mutation in the ASCL1 gene, which is responsible for the development and function of the autonomic nervous system.

Causes

CHS is a genetic disorder that is caused by a mutation in the ASCL1 gene. This gene is responsible for the development and function of the autonomic nervous system, which controls involuntary processes such as breathing, heart rate, and digestion. When this gene is mutated, it can disrupt the normal functioning of the autonomic nervous system, leading to CHS.

Symptoms

The symptoms of CHS can vary depending on the severity of the condition. Some common symptoms include:

• Difficulty breathing, especially during sleep
• Episodes of apnea (cessation of breathing) during sleep
• Excessive sleepiness during the day
• Difficulty swallowing
• Difficulty speaking
• High blood pressure
• Heart rhythm abnormalities

Diagnosis

Diagnosing CHS can be challenging because it is a rare disorder with symptoms that can be mistaken for other conditions. A doctor will typically perform a physical exam and take a medical history to rule out other possible causes of the symptoms. They may also order a sleep study to monitor breathing patterns during sleep. Genetic testing can confirm a diagnosis of CHS by detecting mutations in the ASCL1 gene.

NGS Genetic DNA Test Cost in India

Next-generation sequencing (NGS) is a powerful tool for genetic testing that can detect mutations in multiple genes simultaneously. NGS genetic DNA testing is available in India for CHS and other genetic disorders. The cost of NGS testing for CHS can vary depending on the laboratory and the specific tests ordered, but it typically ranges from INR 15,000 to INR 25,000. DNA Labs India offers NGS genetic DNA testing for CHS and other genetic disorders at a cost of INR 20,000.

Conclusion

Central hypoventilation syndrome is a rare genetic disorder that can have serious consequences if left untreated. Symptoms can vary and may be mistaken for other conditions, making diagnosis challenging. Genetic testing can confirm a diagnosis of CHS and help guide treatment options. NGS genetic DNA testing is available in India for CHS and other genetic disorders at a cost of INR 20,000.

It is important to seek medical attention if you or a loved one is experiencing symptoms of CHS or other respiratory problems, as early diagnosis and treatment can improve outcomes.

For more information about NGS genetic DNA testing for CHS and other genetic disorders, contact DNA Labs India today.