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SLC35A2 Gene Glycosylation disorder type 2M NGS Genetic DNA Test Cost 20000 Rs
SLC35A2 Gene Glycosylation disorder type 2M NGS Genetic DNA Test Details
SLC35A2 Gene Glycosylation Disorder Type 2M NGS Genetic DNA Test
SLC35A2 Gene Glycosylation Disorder Type 2M is a rare genetic disorder that affects the glycosylation process of proteins and lipids in the body. Glycosylation is the process of adding sugar molecules to proteins and lipids to create glycoproteins and glycolipids, which play crucial roles in cell signaling, cell adhesion, and immune response.
SLC35A2 Gene Glycosylation Disorder Type 2M is caused by mutations in the SLC35A2 gene, which provides instructions for making a protein that is involved in the glycosylation process. When this protein is not functioning correctly, the glycosylation process is disrupted, leading to a wide range of symptoms and complications.
Symptoms
The symptoms of SLC35A2 Gene Glycosylation Disorder Type 2M can vary widely, depending on the severity and type of mutation. Some of the common symptoms include:
- Developmental delay
- Intellectual disability
- Seizures
- Microcephaly (small head size)
- Abnormal muscle tone
- Problems with vision and hearing
- Abnormalities in the brain and spinal cord
Diagnosis
SLC35A2 Gene Glycosylation Disorder Type 2M is diagnosed through genetic testing, such as Next Generation Sequencing (NGS) Genetic DNA Test. This test analyzes the DNA sequence of the SLC35A2 gene to identify mutations that may be causing the disorder. The test is typically performed on a blood sample or a cheek swab.
If a mutation is found in the SLC35A2 gene, further testing may be needed to confirm the diagnosis and determine the specific type of mutation. This may include additional genetic testing, imaging tests, and other diagnostic procedures.
Cost
The cost of the NGS Genetic DNA Test for SLC35A2 Gene Glycosylation Disorder Type 2M in India is approximately INR 20,000. However, the cost may vary depending on the testing facility and the specific type of test performed.
Treatment
There is currently no cure for SLC35A2 Gene Glycosylation Disorder Type 2M. Treatment is focused on managing the symptoms and complications of the disorder. This may include medication to control seizures, physical therapy to improve muscle tone and coordination, and other supportive care.
Conclusion
SLC35A2 Gene Glycosylation Disorder Type 2M is a rare genetic disorder that affects the glycosylation process in the body. It can lead to a wide range of symptoms and complications, including developmental delay, intellectual disability, seizures, and abnormal muscle tone. Diagnosis is typically made through genetic testing, such as the NGS Genetic DNA Test, which can identify mutations in the SLC35A2 gene. While there is no cure for the disorder, treatment can help manage the symptoms and improve quality of life.
If you suspect that you or someone you know may have SLC35A2 Gene Glycosylation Disorder Type 2M, it is important to seek medical attention and genetic testing as soon as possible.
For more information or to schedule a genetic testing appointment, contact DNA Labs India today.
