Short Description

NGS genetic DNA test detecets for variant and mutation detection in COL6A3 gene for DYT27

PreTest Information

Clinical History of Patient who is going for COL6A3 Gene DYT27 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with COL6A3 Gene DYT27

Detail Description

Understanding DYT27 – The COL6A3 Gene and NGS Genetic DNA Test

Dystonia is a neurological movement disorder that causes involuntary muscle contractions leading to repetitive movements or abnormal postures. DYT27 is a rare genetic form of dystonia that is caused by mutations in the COL6A3 gene. This gene provides instructions for making one of the six chains of the collagen VI protein, which is found in connective tissues throughout the body, including muscles and skin.

As dystonia is a complex disorder that can have multiple causes, it is important to have an accurate diagnosis. The NGS Genetic DNA test for DYT27 can help to identify the specific genetic mutation that is causing dystonia, which can aid in the development of personalized treatment plans.

Symptoms of DYT27

DYT27 is characterized by the onset of dystonia in childhood or adolescence, typically in the legs or feet. The dystonia may progress to involve other parts of the body, including the hands, arms, and trunk. Other symptoms may include:

• Tremors
• Difficulty with fine motor skills
• Abnormal gait
• Stiffness
• Pain or discomfort

It is important to note that symptoms can vary widely among individuals with DYT27.

Diagnosis of DYT27

The diagnosis of DYT27 is typically made through a combination of clinical evaluation, genetic testing, and imaging studies. A neurologist will perform a physical examination to assess for muscle tone, strength, and coordination. Imaging studies such as MRI or CT scans may be ordered to rule out other potential causes of dystonia.

The NGS Genetic DNA test for DYT27 can identify specific mutations in the COL6A3 gene that are associated with dystonia. This test can be ordered by a physician or genetic counselor and involves a blood or saliva sample.

Cost of NGS Genetic DNA Test for DYT27

The cost of the NGS Genetic DNA test for DYT27 in India is approximately INR 20,000. This cost may vary depending on the laboratory and specific testing protocol.

Personalized Treatment for DYT27

Once a diagnosis of DYT27 has been made, personalized treatment plans can be developed. Treatment may include medications to manage symptoms, physical therapy to improve mobility and range of motion, and deep brain stimulation (DBS) for severe cases.

With an accurate diagnosis through NGS Genetic DNA testing, individuals with DYT27 can receive personalized treatment plans that can help to manage their symptoms and improve their quality of life.

Conclusion

DYT27 is a rare genetic form of dystonia that is caused by mutations in the COL6A3 gene. The NGS Genetic DNA test for DYT27 can help to identify the specific genetic mutation that is causing dystonia, which can aid in the development of personalized treatment plans. With an accurate diagnosis, individuals with DYT27 can receive personalized treatment plans that can help to manage their symptoms and improve their quality of life.

If you suspect that you or a loved one may have DYT27, it is important to speak with a healthcare provider or genetic counselor to discuss testing options and treatment plans.

For more information about DYT27 and NGS Genetic DNA testing, contact DNA Labs India today.