Short Description

NGS genetic DNA test detecets for variant and mutation detection in ALG3 gene for Glycosylation disorder type 1D

PreTest Information

Clinical History of Patient who is going for ALG3 Gene Glycosylation disorder type 1D NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycosylation disorder type 1D

Detail Description

ALG3 Gene Glycosylation Disorder Type 1D: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

ALG3 gene glycosylation disorder type 1D is a rare genetic disorder that affects the way the body processes sugars. It is caused by mutations in the ALG3 gene, which is responsible for producing a protein involved in the glycosylation process. Glycosylation is the process by which sugar molecules are added to proteins and lipids, which is essential for their proper functioning.

Symptoms of ALG3 Gene Glycosylation Disorder Type 1D

The symptoms of ALG3 gene glycosylation disorder type 1D can vary widely between individuals. Some common symptoms include:

• Delayed growth and development
• Developmental delay
• Intellectual disability
• Seizures
• Abnormal facial features
• Eye abnormalities
• Abnormal muscle tone
• Organ abnormalities
• Recurrent infections

Some individuals with ALG3 gene glycosylation disorder type 1D may also have skeletal abnormalities, hearing loss, and heart defects.

Diagnosis of ALG3 Gene Glycosylation Disorder Type 1D

ALG3 gene glycosylation disorder type 1D is typically diagnosed through genetic testing. Next-generation sequencing (NGS) genetic DNA testing can be used to identify mutations in the ALG3 gene. This type of testing can analyze multiple genes at once, which can be helpful in identifying other genetic conditions that may be present.

In addition to genetic testing, doctors may also perform a physical examination and order other tests to evaluate an individual's symptoms. These tests may include blood tests, imaging tests, and other diagnostic procedures.

NGS Genetic DNA Test Cost in India

The cost of NGS genetic DNA testing for ALG3 gene glycosylation disorder type 1D in India can vary depending on the laboratory and the specific tests ordered. On average, the cost of NGS genetic DNA testing for this condition is around INR 20,000.

Conclusion

ALG3 gene glycosylation disorder type 1D is a rare genetic disorder that can cause a range of symptoms, including delayed growth and development, intellectual disability, and seizures. Genetic testing, including NGS genetic DNA testing, can be used to diagnose this condition. The cost of NGS genetic DNA testing for ALG3 gene glycosylation disorder type 1D in India is around INR 20,000.

If you suspect that you or a loved one may have ALG3 gene glycosylation disorder type 1D, it is important to speak with a healthcare professional. They can help to evaluate symptoms and recommend appropriate diagnostic testing and treatment options.