Short Description

NGS genetic DNA test detecets for variant and mutation detection in ALG6 gene for Glycosylation disorder type 1C

PreTest Information

Clinical History of Patient who is going for ALG6 Gene Glycosylation disorder type 1C NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ALG6 Gene Glycosylation disorder type 1C

Detail Description

ALG6 Gene Glycosylation Disorder Type 1C NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

ALG6 gene glycosylation disorder type 1C is a rare genetic disorder that affects the production of glycosylation enzymes. This disorder can lead to a range of symptoms including developmental delays, intellectual disability, seizures, and other neurological problems. The disorder is caused by mutations in the ALG6 gene which provides instructions for making an enzyme that is involved in the glycosylation process.

The glycosylation process is important for the normal functioning of many proteins in the body. It involves the addition of sugar molecules to proteins, which helps to stabilize them and allows them to interact properly with other molecules in the body. In people with ALG6 gene glycosylation disorder type 1C, the glycosylation process is disrupted, leading to a range of symptoms.

Symptoms of ALG6 Gene Glycosylation Disorder Type 1C

The symptoms of ALG6 gene glycosylation disorder type 1C can vary widely from person to person. Some of the common symptoms include:

• Developmental delays
• Intellectual disability
• Seizures
• Muscle weakness
• Abnormalities in the brain structure
• Behavioral problems
• Facial dysmorphism
• Gastrointestinal problems
• Abnormalities in the skeletal system

Diagnosis of ALG6 Gene Glycosylation Disorder Type 1C

ALG6 gene glycosylation disorder type 1C is diagnosed through genetic testing. This involves analyzing a person's DNA to identify mutations in the ALG6 gene. The most common type of genetic testing used for this disorder is Next Generation Sequencing (NGS). This test is able to analyze a person's entire genome, which makes it a highly accurate and reliable test for diagnosing genetic disorders.

Cost of ALG6 Gene Glycosylation Disorder Type 1C NGS Genetic DNA Test

The cost of ALG6 gene glycosylation disorder type 1C NGS genetic DNA test in India is around INR 20000. This cost may vary depending on the testing facility and the specific tests that are included in the analysis.

Conclusion

ALG6 gene glycosylation disorder type 1C is a rare genetic disorder that can lead to a range of symptoms including developmental delays, intellectual disability, seizures, and other neurological problems. The disorder is caused by mutations in the ALG6 gene which disrupts the glycosylation process. The disorder can be diagnosed through genetic testing, and the cost of the NGS genetic DNA test is around INR 20000 in India. If you suspect that you or a loved one may have this disorder, it is important to speak with a healthcare professional for proper diagnosis and treatment.