SLC19A3 gene encephalopathy thiamine-responsive is a rare genetic disorder that affects the brain and nervous system. It is caused by a mutation in the SLC19A3 gene, which is responsible for transporting thiamine (vitamin B1) into the cells of the body.

The symptoms of SLC19A3 gene encephalopathy thiamine-responsive can vary widely, but typically include:

• Developmental delays
• Seizures
• Muscle weakness and wasting
• Difficulty swallowing and breathing
• Intellectual disability
• Speech problems
• Vision problems
• Behavioral problems
• Anemia
• Enlarged heart
• Other neurological symptoms

If you or your child are experiencing any of these symptoms, it is important to speak with a healthcare provider. A diagnosis of SLC19A3 gene encephalopathy thiamine-responsive can be made through genetic testing.

DNA Labs India provides NGS genetic DNA testing for SLC19A3 gene encephalopathy thiamine-responsive. This test uses next-generation sequencing technology to analyze the DNA sequence of the SLC19A3 gene. The test can identify mutations in the gene that are associated with the disorder.

The cost of the SLC19A3 gene encephalopathy thiamine-responsive NGS genetic DNA test at DNA Labs India is INR 20000. The test can be ordered online and a DNA sample can be collected at one of our partner collection centers. Results are typically available within 2-3 weeks.

If you or your child have been diagnosed with SLC19A3 gene encephalopathy thiamine-responsive, it is important to work with a healthcare provider to manage the symptoms of the disorder. Treatment may include thiamine supplements, medications to control seizures and other symptoms, and supportive therapies.