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Accurate Test Results for COASY Gene Neurodegeneration with brain iron accumulation type 6 NGS Genetic DNA Test
COASY Gene Neurodegeneration with brain iron accumulation type 6 NGS Genetic DNA Test Cost 20000 Rs
COASY Gene Neurodegeneration with brain iron accumulation type 6 NGS Genetic DNA Test Details
COASY Gene Neurodegeneration with Brain Iron Accumulation Type 6 NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis
Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited neurodegenerative disorders characterized by an abnormal accumulation of iron in the basal ganglia of the brain, which leads to progressive movement disorders and cognitive decline. One of the types of NBIA is caused by mutations in the COASY gene, which is responsible for encoding an enzyme involved in the synthesis of coenzyme A.
What is COASY Gene Neurodegeneration with Brain Iron Accumulation Type 6?
COASY Gene Neurodegeneration with Brain Iron Accumulation Type 6 (NBIA6) is a rare genetic disorder that is caused by mutations in the COASY gene. This condition is characterized by an abnormal accumulation of iron in the basal ganglia of the brain, leading to progressive movement disorders and cognitive decline.
The COASY gene encodes an enzyme that is involved in the synthesis of coenzyme A, which is essential for a variety of cellular processes. Mutations in the COASY gene can disrupt this process, leading to the accumulation of iron in the brain and subsequent neurodegeneration.
Symptoms of COASY Gene Neurodegeneration with Brain Iron Accumulation Type 6
The symptoms of COASY Gene Neurodegeneration with Brain Iron Accumulation Type 6 typically begin in childhood or early adulthood and progress over time. The most common symptoms include:
- Difficulty with movement, such as tremors, rigidity, and difficulty walking
- Speech difficulties
- Cognitive decline
- Behavioral changes
- Seizures
- Visual impairment
- Sleep disturbances
Diagnosis of COASY Gene Neurodegeneration with Brain Iron Accumulation Type 6
Diagnosis of COASY Gene Neurodegeneration with Brain Iron Accumulation Type 6 typically involves a combination of clinical evaluation, genetic testing, and brain imaging studies. A neurologist will perform a detailed evaluation of the patient's symptoms and medical history, and may order imaging studies such as an MRI to assess the extent of iron accumulation in the brain.
Genetic testing is also an important component of diagnosis, as mutations in the COASY gene are responsible for this condition. Next-generation sequencing (NGS) genetic DNA testing is a highly accurate and reliable method for detecting genetic mutations and can be used to confirm a diagnosis of COASY Gene Neurodegeneration with Brain Iron Accumulation Type 6.
COASY Gene Neurodegeneration with Brain Iron Accumulation Type 6 NGS Genetic DNA Test Cost
The cost of COASY Gene Neurodegeneration with Brain Iron Accumulation Type 6 NGS Genetic DNA testing in India typically ranges from INR 20000 to INR 25000, depending on the testing facility and the specific tests ordered.
It is important to note that genetic testing is typically not covered by health insurance, so patients should be prepared to pay out of pocket for these tests.
Conclusion
COASY Gene Neurodegeneration with Brain Iron Accumulation Type 6 is a rare genetic disorder that is characterized by an abnormal accumulation of iron in the basal ganglia of the brain, leading to progressive movement disorders and cognitive decline. Diagnosis typically involves a combination of clinical evaluation, genetic testing, and brain imaging studies, and NGS Genetic DNA testing is a highly accurate and reliable method for detecting genetic mutations. The cost of COASY Gene Neurodegeneration with Brain Iron Accumulation Type 6 NGS Genetic DNA testing in India typically ranges from INR 20000 to INR 25000.
If you or a loved one is experiencing symptoms of COASY Gene Neurodegeneration with Brain Iron Accumulation Type 6, it is important to seek medical attention promptly and undergo appropriate diagnostic testing to ensure an accurate diagnosis and appropriate treatment.
