Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC25A19 gene for Thiamine metabolism dysfunction syndrome 4 progressive polyneuropathy type

PreTest Information

Clinical History of Patient who is going for SLC25A19 Gene Thiamine metabolism dysfunction syndrome 4 progressive polyneuropathy type NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SLC25A19 Gene Thiamine metabolism dysfunction syndrome 4 progressive polyneuropathy type

Detail Description

SLC25A19 Gene Thiamine Metabolism Dysfunction Syndrome 4 Progressive Polyneuropathy Type NGS Genetic DNA Test Cost | DNA Labs India

If you or someone you know is experiencing symptoms like peripheral neuropathy, muscle weakness, and vision loss, it may be due to SLC25A19 gene mutation. This mutation causes Thiamine Metabolism Dysfunction Syndrome 4 Progressive Polyneuropathy Type, a rare genetic disorder that affects the body's ability to process thiamine (vitamin B1).

At DNA Labs India, we offer a Next Generation Sequencing (NGS) Genetic DNA Test that can detect the SLC25A19 gene mutation and provide an accurate diagnosis. Our test costs INR 20,000 and is conducted by our team of experienced geneticists and genetic counselors.

What are the Symptoms of SLC25A19 Gene Thiamine Metabolism Dysfunction Syndrome 4 Progressive Polyneuropathy Type?

The symptoms of SLC25A19 gene mutation can vary from person to person, and may include:

• Peripheral neuropathy
• Muscle weakness
• Vision loss
• Intellectual disability
• Speech difficulties
• Developmental delay

How is SLC25A19 Gene Thiamine Metabolism Dysfunction Syndrome 4 Progressive Polyneuropathy Type Diagnosed?

The diagnosis of SLC25A19 gene mutation is made through genetic testing. At DNA Labs India, we offer a Next Generation Sequencing (NGS) Genetic DNA Test that can detect the mutation with a high degree of accuracy. Our genetic counselors will provide a detailed report that can help you and your doctor make informed decisions about your treatment options.

What are the Treatment Options for SLC25A19 Gene Thiamine Metabolism Dysfunction Syndrome 4 Progressive Polyneuropathy Type?

Currently, there is no cure for SLC25A19 gene mutation. Treatment options focus on managing the symptoms and may include:

• Thiamine supplements
• Physical therapy
• Occupational therapy
• Speech therapy
• Assistive devices (such as hearing aids or mobility aids)

It is important to work closely with your doctor and genetic counselor to develop a treatment plan that is tailored to your specific needs.

Conclusion

If you or someone you know is experiencing symptoms of SLC25A19 gene mutation, it is important to seek medical attention. At DNA Labs India, we offer a Next Generation Sequencing (NGS) Genetic DNA Test that can detect the mutation and provide an accurate diagnosis. Our team of experienced geneticists and genetic counselors can provide support and guidance throughout the testing process, and can help you make informed decisions about your treatment options.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for SLC25A19 Gene Thiamine metabolism dysfunction syndrome 4 progressive polyneuropathy type NGS Genetic DNA Test