Short Description

NGS genetic DNA test detecets for variant and mutation detection in ALG11 gene for Congenital disorder of glycosylation, type Ip

PreTest Information

Clinical History of Patient who is going for ALG11 Gene Congenital disorder of glycosylation, type Ip NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Congenital disorder of glycosylation, type Ip

Detail Description

ALG11 Gene Congenital Disorder of Glycosylation, Type Ip NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Congenital disorders of glycosylation (CDG) are a group of rare genetic disorders that affect the body's ability to produce and process proteins and sugars. CDG can lead to a wide range of symptoms, including developmental delays, neurological problems, and digestive issues. One specific type of CDG is caused by mutations in the ALG11 gene, known as ALG11 CDG, type Ip.

What is ALG11 CDG, type Ip?

ALG11 CDG, type Ip is a rare genetic disorder that affects the body's ability to produce and process sugars and proteins. This disorder is caused by mutations in the ALG11 gene, which provides instructions for producing an enzyme that is essential for the production of glycoproteins. Glycoproteins are proteins that have sugar molecules attached to them, and they play a crucial role in many biological processes.

Symptoms of ALG11 CDG, type Ip

The symptoms of ALG11 CDG, type Ip can vary widely from person to person and depend on the severity of the condition. Some common symptoms include:

• Developmental delays
• Neurological problems
• Abnormal facial features
• Seizures
• Failure to thrive
• Enlarged liver and spleen
• Gastrointestinal problems
• Increased susceptibility to infections

Diagnosis of ALG11 CDG, type Ip

Diagnosing ALG11 CDG, type Ip can be challenging because the symptoms can be similar to other genetic disorders. However, there are specific tests that can be done to diagnose this disorder, including a genetic test that looks for mutations in the ALG11 gene. Other tests may include blood and urine tests, imaging tests, and a biopsy of the liver or skin.

NGS Genetic DNA Test for ALG11 CDG, type Ip

Next-generation sequencing (NGS) is a powerful tool used to diagnose genetic disorders, including ALG11 CDG, type Ip. This test involves analyzing a patient's DNA to look for mutations in the ALG11 gene. The test is highly accurate and can detect even small mutations that may be missed by other tests. The cost of NGS genetic DNA testing for ALG11 CDG, type Ip in India is around INR 20,000.

Conclusion

ALG11 CDG, type Ip is a rare genetic disorder that can cause a wide range of symptoms, including developmental delays, neurological problems, and digestive issues. Early diagnosis is crucial for managing the symptoms of this disorder and improving the patient's quality of life. NGS genetic DNA testing is a powerful tool that can help diagnose ALG11 CDG, type Ip accurately. If you suspect that you or a loved one may have this disorder, speak to a genetic counselor or healthcare provider about testing options.