Short Description

NGS genetic DNA test detecets for variant and mutation detection in DPAGT1 gene for Glycosylation disorder type 1J

PreTest Information

Clinical History of Patient who is going for DPAGT1 Gene Glycosylation disorder type 1J NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with DPAGT1 Gene Glycosylation disorder type 1J

Detail Description

DPAGT1 Gene Glycosylation Disorder Type 1J NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

DPAGT1 gene glycosylation disorder type 1J is a rare genetic disorder that affects the glycosylation process in the body. Glycosylation is a biological process in which sugar molecules are added to proteins and lipids to form glycoconjugates. These glycoconjugates play an important role in many biological processes, including cell signaling, cell adhesion, and immune response.

DPAGT1 gene glycosylation disorder type 1J is caused by mutations in the DPAGT1 gene, which provides instructions for making an enzyme that is essential for the glycosylation process. As a result, individuals with this disorder have abnormal glycoconjugates, which can lead to a variety of symptoms.

Symptoms

The symptoms of DPAGT1 gene glycosylation disorder type 1J can vary widely, but may include:

• Developmental delay
• Intellectual disability
• Seizures
• Abnormalities in the structure of the brain
• Abnormalities in the structure of the eyes
• Abnormalities in the structure of the heart
• Abnormalities in the structure of the kidneys
• Weak muscle tone (hypotonia)
• Difficulty with movement
• Abnormalities in the structure of the skeleton
• Recurrent infections
• Abnormalities in the structure of the skin

Diagnosis

DPAGT1 gene glycosylation disorder type 1J is diagnosed through a combination of clinical evaluation, genetic testing, and imaging studies. A healthcare provider may suspect the disorder based on an individual's symptoms and medical history. Genetic testing can confirm the diagnosis by identifying mutations in the DPAGT1 gene. Imaging studies, such as magnetic resonance imaging (MRI) and computed tomography (CT) scans, can help identify structural abnormalities in the brain and other organs.

NGS Genetic DNA Test

The NGS genetic DNA test offered by DNA Labs India can identify mutations in the DPAGT1 gene associated with glycosylation disorder type 1J. The test uses next-generation sequencing (NGS) technology to analyze DNA samples. The cost of the test is INR 20000.

Conclusion

DPAGT1 gene glycosylation disorder type 1J is a rare genetic disorder that can cause a variety of symptoms. Diagnosis typically involves a combination of clinical evaluation, genetic testing, and imaging studies. The NGS genetic DNA test offered by DNA Labs India can identify mutations in the DPAGT1 gene associated with this disorder at a cost of INR 20000.