Short Description

NGS genetic DNA test detecets for variant and mutation detection in ACO2 gene for Cerebellar-retinal degeneration, infantile

PreTest Information

Clinical History of Patient who is going for ACO2 Gene Cerebellar-retinal degeneration, infantile NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ACO2 Gene Cerebellar-retinal degeneration, infantile NGS Genetic DNA Test gene ACO2

Detail Description

ACO2 Gene Cerebellar-retinal degeneration, infantile NGS Genetic DNA Test

ACO2 Gene Cerebellar-retinal degeneration, infantile is a rare genetic disorder that affects the brain and eyes. It is caused by mutations in the ACO2 gene, which provides instructions for making an enzyme called aconitase 2. This enzyme is involved in the production of energy within cells. When the ACO2 gene is mutated, the enzyme does not work properly, leading to a buildup of toxic byproducts within cells, which ultimately leads to the death of cells in the cerebellum and retina.

Symptoms of ACO2 Gene Cerebellar-retinal degeneration, infantile

The symptoms of ACO2 Gene Cerebellar-retinal degeneration, infantile typically begin within the first few months of life. The primary symptoms include:

• Progressive vision loss
• Problems with balance and coordination
• Weak muscle tone
• Intellectual disability
• Seizures

Diagnosis of ACO2 Gene Cerebellar-retinal degeneration, infantile

Diagnosis of ACO2 Gene Cerebellar-retinal degeneration, infantile involves a combination of clinical evaluation, genetic testing, and imaging studies. The genetic test for ACO2 Gene Cerebellar-retinal degeneration, infantile is done using Next-generation sequencing (NGS) technology. NGS is a high-throughput method that can analyze large amounts of DNA sequence data quickly and accurately. The test can detect mutations in the ACO2 gene and confirm a diagnosis of ACO2 Gene Cerebellar-retinal degeneration, infantile.

Cost of NGS Genetic DNA Test

The cost of the NGS Genetic DNA Test for ACO2 Gene Cerebellar-retinal degeneration, infantile in India is approximately INR 20,000. The cost may vary depending on the laboratory or clinic where the test is performed.

Conclusion

ACO2 Gene Cerebellar-retinal degeneration, infantile is a rare genetic disorder that affects the brain and eyes. The disorder can be diagnosed using NGS Genetic DNA Test, which can detect mutations in the ACO2 gene and confirm a diagnosis of ACO2 Gene Cerebellar-retinal degeneration, infantile. The cost of the test is around INR 20,000 in India. Early diagnosis and treatment can help manage symptoms and improve the quality of life for individuals with this condition.

If you suspect that you or your child may have ACO2 Gene Cerebellar-retinal degeneration, infantile, it is important to consult with a genetic counselor or a healthcare provider who specializes in genetics. They can help determine if genetic testing is appropriate and provide guidance on treatment options and management of the condition.

At DNA Labs India, we offer a wide range of genetic tests, including NGS Genetic DNA Test for ACO2 Gene Cerebellar-retinal degeneration, infantile. Our team of genetic counselors and healthcare professionals can provide personalized guidance and support to help you make informed decisions about your health.

Contact us today to learn more about our genetic testing services and how we can help you.

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 ACO2 Gene Cerebellar-retinal degeneration, infantile NGS Genetic DNA Test