Short Description

NGS genetic DNA test detecets for variant and mutation detection in ZEB2 gene for Central hypoventilation syndrome, congenital

PreTest Information

Clinical History of Patient who is going for ZEB2 Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ZEB2 Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test gene ZEB2

Detail Description

ZEB2 Gene Central Hypoventilation Syndrome

Central Hypoventilation Syndrome (CHS) is a rare genetic disorder that affects the respiratory system. CHS is a type of sleep disorder that causes an individual to stop breathing during sleep. This disorder is caused by mutations in the ZEB2 gene.

Symptoms of Central Hypoventilation Syndrome

The symptoms of CHS include:

• Difficulty breathing during sleep
• Slow breathing rate during the day
• Difficulty swallowing
• Difficulty speaking
• Abnormal sweating
• Abnormal heart rate
• Blue skin color

If you or your child has any of these symptoms, it is important to seek medical attention.

Diagnosis of Central Hypoventilation Syndrome

The diagnosis of CHS is made through a combination of physical examination, medical history, and genetic testing. Genetic testing can identify mutations in the ZEB2 gene, which confirm the diagnosis of CHS.

Congenital NGS Genetic DNA Test Cost INR 20000

DNA Labs India offers a Congenital Next Generation Sequencing (NGS) Genetic DNA Test for Central Hypoventilation Syndrome caused by ZEB2 Gene. The cost of this test is INR 20000.

The test involves a simple blood sample collection, and the results are available within 2-3 weeks. Early diagnosis of CHS can help with the management of symptoms and improve the quality of life for the affected individual.

Conclusion

Central Hypoventilation Syndrome caused by mutations in the ZEB2 gene is a rare genetic disorder that affects the respiratory system. If you or your child have any symptoms of CHS, it is important to seek medical attention. DNA Labs India offers a Congenital NGS Genetic DNA Test for CHS at an affordable cost of INR 20000. Early diagnosis can help with the management of symptoms and improve the quality of life for the affected individual.