Short Description

NGS genetic DNA test detecets for variant and mutation detection in OPA3 gene for 3-methylglutaconic aciduria type 3

PreTest Information

Clinical History of Patient who is going for OPA3 Gene 3-methylglutaconic aciduria type 3 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with 3-methylglutaconic aciduria type 3

Detail Description

OPA3 Gene 3-methylglutaconic aciduria type 3 NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

OPA3 gene 3-methylglutaconic aciduria type 3 NGS genetic DNA test is a test that is used to diagnose a rare genetic disorder called 3-methylglutaconic aciduria type 3. This disorder is caused by mutations in the OPA3 gene, which provides instructions for making a protein that is involved in the maintenance of mitochondria, the energy-producing structures in cells. This disorder affects the nervous system, causing developmental delay, muscle weakness, and other symptoms.

Symptoms of 3-methylglutaconic aciduria type 3

The symptoms of 3-methylglutaconic aciduria type 3 include:

• Developmental delay
• Muscle weakness
• Difficulty walking
• Abnormal eye movements
• Speech difficulties
• Seizures

Diagnosis of 3-methylglutaconic aciduria type 3

The diagnosis of 3-methylglutaconic aciduria type 3 is made through genetic testing, specifically through the OPA3 gene 3-methylglutaconic aciduria type 3 NGS genetic DNA test. This test looks for mutations in the OPA3 gene that are known to cause the disorder. In addition, doctors may perform a physical exam, neurological exam, and other tests to confirm the diagnosis.

Cost of OPA3 gene 3-methylglutaconic aciduria type 3 NGS genetic DNA test

The cost of the OPA3 gene 3-methylglutaconic aciduria type 3 NGS genetic DNA test is INR 20000 in DNA Labs India. This cost may vary depending on the location and other factors.

Conclusion

The OPA3 gene 3-methylglutaconic aciduria type 3 NGS genetic DNA test is a valuable tool for diagnosing a rare genetic disorder that affects the nervous system. If you or someone you know is experiencing symptoms of 3-methylglutaconic aciduria type 3, talk to a doctor about the possibility of genetic testing.

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 OPA3 Gene 3-methylglutaconic aciduria type 3 NGS Genetic DNA Test