Short Description

NGS genetic DNA test detecets for variant and mutation detection in DNAJC19 gene for 3-methylglutaconic aciduria type 5

PreTest Information

Clinical History of Patient who is going for DNAJC19 Gene 3-methylglutaconic aciduria type 5 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with 3-methylglutaconic aciduria type 5

Detail Description

DNAJC19 Gene 3-methylglutaconic aciduria type 5 NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

3-methylglutaconic aciduria type 5 (also known as Costeff syndrome) is a rare genetic disorder that affects the nervous system and causes muscle weakness, developmental delay, and vision problems. The condition is caused by mutations in the DNAJC19 gene, which provides instructions for making a protein that is important for mitochondrial function.

If you suspect that you or someone you know may have 3-methylglutaconic aciduria type 5, a DNA test can help confirm the diagnosis. The DNAJC19 gene test is a type of Next Generation Sequencing (NGS) test that can identify mutations in the gene.

Symptoms of 3-methylglutaconic aciduria type 5

The symptoms of 3-methylglutaconic aciduria type 5 can vary widely, but may include:

• Muscle weakness
• Developmental delay
• Low muscle tone (hypotonia)
• Vision problems, including optic atrophy and nystagmus
• Intellectual disability
• Seizures
• Abnormalities of the brain and nervous system

Diagnosing 3-methylglutaconic aciduria type 5

If you or someone you know is experiencing symptoms that may be related to 3-methylglutaconic aciduria type 5, it is important to see a doctor for a diagnosis. A DNA test can help confirm the presence of mutations in the DNAJC19 gene.

The DNAJC19 gene test is a type of Next Generation Sequencing (NGS) test that can identify mutations in the gene. The test is performed on a blood or saliva sample, and results are typically available within a few weeks.

The cost of the DNAJC19 gene test

The cost of the DNAJC19 gene test can vary depending on the testing facility and the specific type of test that is performed. In India, the cost of the test is typically around INR 20,000.

Conclusion

3-methylglutaconic aciduria type 5 is a rare genetic disorder that affects the nervous system and causes muscle weakness, developmental delay, and vision problems. If you suspect that you or someone you know may have this condition, it is important to see a doctor for a diagnosis. A DNA test can help confirm the presence of mutations in the DNAJC19 gene, and can be performed for a cost of around INR 20,000 in India.

At DNA Labs India, we offer a range of DNA testing services, including the DNAJC19 gene test. Our experienced team of professionals can provide accurate and reliable results, and we are committed to providing our customers with the highest level of service and support. Contact us today to learn more about our DNA testing services.