Short Description

NGS genetic DNA test detecets for variant and mutation detection in ALG12 gene for Glycosylation disorder type 1G

PreTest Information

Clinical History of Patient who is going for ALG12 Gene Glycosylation disorder type 1G NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycosylation disorder type 1G

Detail Description

Understanding ALG12 Gene Glycosylation Disorder Type 1G: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

ALG12 Gene Glycosylation Disorder Type 1G is a rare genetic disorder that affects the way in which the body processes sugars. This disorder is caused by a mutation in the ALG12 gene, which affects the production of glycosylation enzymes. Glycosylation is the process by which sugars are added to proteins and lipids in the body. When this process is disrupted, it can cause a range of symptoms and health problems.

Symptoms of ALG12 Gene Glycosylation Disorder Type 1G

The symptoms of ALG12 Gene Glycosylation Disorder Type 1G can vary from person to person and may include:

• Developmental delays
• Intellectual disability
• Seizures
• Abnormalities in the brain and nervous system
• Facial abnormalities
• Abnormalities in the eyes
• Heart defects
• Abnormalities in the liver and kidneys
• Abnormalities in the skeleton and muscles

These symptoms can range from mild to severe and may become apparent in infancy or early childhood.

Diagnosis of ALG12 Gene Glycosylation Disorder Type 1G

Diagnosing ALG12 Gene Glycosylation Disorder Type 1G can be challenging as it is a rare disorder with symptoms that can be similar to other conditions. A diagnosis is typically made through a combination of clinical evaluation, genetic testing, and imaging studies.

Genetic testing is the most reliable method for diagnosing ALG12 Gene Glycosylation Disorder Type 1G. This involves analyzing a sample of the patient's DNA to look for mutations in the ALG12 gene. Next-generation sequencing (NGS) is a type of genetic testing that can analyze multiple genes simultaneously, making it a powerful tool for diagnosing rare genetic disorders.

NGS Genetic DNA Test Cost in India

The cost of NGS genetic DNA testing in India can vary depending on the laboratory and the specific test being performed. On average, the cost of an NGS genetic DNA test for ALG12 Gene Glycosylation Disorder Type 1G is around INR 20,000.

It is important to note that genetic testing may not be covered by insurance and can be expensive. However, early diagnosis can be crucial for managing the symptoms of ALG12 Gene Glycosylation Disorder Type 1G and improving outcomes for patients.

Conclusion

ALG12 Gene Glycosylation Disorder Type 1G is a rare genetic disorder that can cause a range of symptoms and health problems. Early diagnosis through genetic testing, including NGS genetic DNA testing, can be crucial for managing the symptoms of this disorder. While the cost of genetic testing may be high, it is important to consider the potential benefits of early diagnosis and treatment.