Short Description

NGS genetic DNA test detecets for variant and mutation detection in STT3A gene for Congenital disorder of glycosylation, type Iw

PreTest Information

Clinical History of Patient who is going for STT3A Gene Congenital disorder of glycosylation, type Iw NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Congenital disorder of glycosylation, type Iw

Detail Description

STT3A Gene Congenital Disorder of Glycosylation, Type Iw NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

STT3A gene Congenital Disorder of Glycosylation (CDG) is a rare genetic disorder that affects the body's ability to produce glycoproteins. Glycoproteins are proteins that have sugar molecules attached to them, which are essential for their proper function in the body. CDG can cause a wide range of symptoms, including developmental delays, intellectual disability, seizures, and liver problems.

Symptoms

The symptoms of CDG can vary widely depending on the specific type of CDG and the severity of the condition. Some common symptoms of CDG include:

• Developmental delays
• Intellectual disability
• Seizures
• Liver problems
• Abnormal blood clotting
• Failure to thrive
• Abnormal facial features
• Abnormal muscle tone

Diagnosis

Diagnosing CDG can be challenging because the symptoms can be similar to other conditions. A doctor may suspect CDG if a child has developmental delays, intellectual disability, or other symptoms that suggest a problem with glycoprotein production. To confirm a diagnosis of CDG, a doctor may order genetic testing.

The most common type of genetic testing used to diagnose CDG is next-generation sequencing (NGS). NGS is a type of DNA test that can analyze multiple genes at once. It is a powerful tool for identifying genetic mutations that can cause CDG. NGS can be expensive, and the cost of a CDG NGS genetic DNA test in India is typically around INR 20000.

Treatment

There is no cure for CDG, and treatment is focused on managing symptoms. Treatment may include physical therapy, occupational therapy, speech therapy, and medications to manage seizures or other symptoms.

Conclusion

STT3A gene Congenital Disorder of Glycosylation (CDG) is a rare genetic disorder that can cause a wide range of symptoms, including developmental delays, intellectual disability, seizures, and liver problems. Diagnosing CDG can be challenging, but genetic testing, such as NGS, can help confirm a diagnosis. Treatment is focused on managing symptoms, and there is currently no cure for CDG.

If you suspect that your child may have CDG, it is important to speak with a doctor. Early diagnosis and treatment can help improve outcomes for children with CDG.

For more information on genetic testing and CDG, contact DNA Labs India.