Short Description

NGS genetic DNA test detecets for variant and mutation detection in GFRA1 gene for Central hypoventilation syndrome, congenital

PreTest Information

Clinical History of Patient who is going for GFRA1 Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GFRA1 Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test gene GFRA1

Detail Description

GFRA1 Gene Central Hypoventilation Syndrome: Symptoms, Diagnosis and Congenital NGS Genetic DNA Test Cost at DNA Labs India

Central hypoventilation syndrome (CHS) is a rare genetic disorder that affects the body's ability to breathe properly during sleep. CHS is caused by a mutation in the GFRA1 gene, which plays a critical role in the development of the nervous system. In this blog, we will discuss the symptoms, diagnosis, and cost of the congenital NGS genetic DNA test for CHS at DNA Labs India.

Symptoms of CHS

The symptoms of CHS can vary from person to person, but the most common symptoms include:

• Difficulty breathing during sleep
• Daytime sleepiness and fatigue
• Frequent waking during the night
• Difficulty staying asleep
• Slow development of speech and language skills
• Poor growth and weight gain

These symptoms may be present at birth or may develop later in childhood. CHS can also cause a decrease in the body's response to high levels of carbon dioxide, which can lead to a decrease in respiratory drive and a build-up of carbon dioxide in the blood.

Diagnosis of CHS

CHS is diagnosed through a combination of clinical evaluation and genetic testing. A doctor will perform a physical exam and take a detailed medical history to look for signs of CHS. They may also perform a sleep study to monitor the patient's breathing during sleep.

If CHS is suspected, a genetic test may be ordered to confirm the diagnosis. The GFRA1 gene can be sequenced using next-generation sequencing (NGS) technology to identify mutations that may be causing CHS.

Congenital NGS Genetic DNA Test Cost at DNA Labs India

DNA Labs India offers a comprehensive congenital NGS genetic DNA test for CHS. The cost of this test is INR 20,000, which includes the cost of sample collection, testing, and analysis.

This test uses state-of-the-art NGS technology to sequence the GFRA1 gene and identify mutations that may be causing CHS. The test is non-invasive and requires only a small sample of blood or saliva for analysis.

Conclusion

Central hypoventilation syndrome is a rare genetic disorder that can cause difficulty breathing during sleep and other related symptoms. The GFRA1 gene plays a critical role in the development of the nervous system and mutations in this gene can cause CHS. DNA Labs India offers a comprehensive congenital NGS genetic DNA test for CHS at a cost of INR 20,000. If you or a loved one is experiencing symptoms of CHS, it is important to speak with a doctor and consider genetic testing to confirm a diagnosis and explore treatment options.

For more information about the congenital NGS genetic DNA test for CHS at DNA Labs India, please visit our website or contact us directly.