Short Description

NGS genetic DNA test detecets for variant and mutation detection in C19orf12 gene for Neurodegeneration with brain iron accumulation type 4

PreTest Information

Clinical History of Patient who is going for C19orf12 Gene Neurodegeneration with brain iron accumulation type 4 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with C19orf12 Gene Neurodegeneration with brain iron accumulation type 4

Detail Description

C19orf12 Gene Neurodegeneration with Brain Iron Accumulation Type 4 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Neurodegeneration with brain iron accumulation (NBIA) is a group of rare, inherited neurological disorders that are characterized by the abnormal accumulation of iron in the brain. One type of NBIA is caused by mutations in the C19orf12 gene, which is responsible for the production of a protein that helps to transport iron within cells. NBIA caused by C19orf12 mutations is known as NBIA4.

Symptoms of NBIA4

The symptoms of NBIA4 typically begin in childhood and worsen over time. The most common symptoms include:

• Dystonia (involuntary muscle contractions)
• Spasticity (stiff or tight muscles)
• Difficulty with movement and coordination
• Speech difficulties
• Vision problems
• Seizures
• Cognitive decline

Diagnosis of NBIA4

Diagnosis of NBIA4 can be difficult, as the symptoms can be similar to those of other neurological disorders. A diagnosis is typically made through a combination of clinical evaluation, brain imaging, and genetic testing. Brain imaging may show iron accumulation in certain areas of the brain, while genetic testing can confirm the presence of C19orf12 mutations.

NGS Genetic DNA Test for NBIA4

Next-generation sequencing (NGS) is a powerful tool for genetic testing, allowing for the analysis of multiple genes at once. A NGS genetic DNA test for NBIA4 can detect mutations in the C19orf12 gene with a high degree of accuracy.

Cost of NGS Genetic DNA Test for NBIA4

The cost of a NGS genetic DNA test for NBIA4 in India is typically around INR 20,000. However, the exact cost may vary depending on the laboratory and the specific testing protocol used.

Conclusion

NBIA4 is a rare neurological disorder caused by mutations in the C19orf12 gene. Symptoms typically begin in childhood and worsen over time, and diagnosis can be difficult. A NGS genetic DNA test can detect mutations in the C19orf12 gene with a high degree of accuracy, and the cost of such a test in India is typically around INR 20,000.

If you or a loved one are experiencing symptoms of NBIA4, it is important to seek medical attention and consider genetic testing for a proper diagnosis.

For more information on NGS genetic DNA testing for NBIA4, contact DNA Labs India.