Short Description

NGS genetic DNA test detecets for variant and mutation detection in CIZ1 gene for Cervical dystonia

PreTest Information

Clinical History of Patient who is going for CIZ1 Gene Cervical dystonia NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CIZ1 Gene Cervical dystonia

Detail Description

CIZ1 Gene and Cervical Dystonia: NGS Genetic DNA Test Cost INR 20000

Cervical dystonia is a neurological disorder that causes involuntary contractions and spasms of the neck muscles, resulting in abnormal head movements and postures. It is a rare condition, affecting only 1 in 10,000 people, and is often misdiagnosed or undiagnosed.

Recent research has identified a possible genetic link to cervical dystonia, specifically in the CIZ1 gene. The CIZ1 gene is responsible for the production of a protein that plays a role in the regulation of cell division and DNA replication. Mutations in this gene have been associated with an increased risk of cervical dystonia.

NGS (Next-Generation Sequencing) genetic DNA testing is a powerful tool for identifying genetic mutations and variations in genes associated with various diseases, including cervical dystonia. This test analyzes the entire DNA sequence of the CIZ1 gene, allowing for a more accurate diagnosis of cervical dystonia and better treatment options.

Symptoms of Cervical Dystonia

The symptoms of cervical dystonia can vary from person to person, but typically include:

• Involuntary contractions and spasms of the neck muscles
• Abnormal head movements and postures
• Pain and discomfort in the neck and shoulders
• Headaches
• Difficulty swallowing
• Speech difficulties

These symptoms can be mild or severe and can have a significant impact on a person's quality of life. Early diagnosis and treatment can help to manage symptoms and improve outcomes.

Diagnosis of Cervical Dystonia

Diagnosis of cervical dystonia can be challenging, as there is no specific test that can definitively diagnose the condition. Diagnosis is typically based on a physical examination, medical history, and ruling out other possible causes of the symptoms.

NGS genetic DNA testing can provide additional information to support a diagnosis of cervical dystonia and identify any genetic mutations associated with the condition.

NGS Genetic DNA Test Cost INR 20000

The cost of NGS genetic DNA testing for the CIZ1 gene is INR 20000. This test is typically not covered by insurance, and payment is required upfront.

The test involves a simple blood draw, and results are typically available within a few weeks. Results will identify any genetic mutations or variations in the CIZ1 gene that may be associated with cervical dystonia.

Conclusion

Cervical dystonia is a rare neurological disorder that can have a significant impact on a person's quality of life. Recent research has identified a possible genetic link to the condition, specifically in the CIZ1 gene. NGS genetic DNA testing is a powerful tool for identifying genetic mutations and variations in this gene, allowing for a more accurate diagnosis and better treatment options. The cost of this test is INR 20000, and results are typically available within a few weeks.

If you or a loved one is experiencing symptoms of cervical dystonia, it is important to seek medical attention and discuss the possibility of NGS genetic DNA testing with your healthcare provider.