Short Description

NGS genetic DNA test detecets for variant and mutation detection in KCTD17 gene for DYT26, myoclonic

PreTest Information

Clinical History of Patient who is going for KCTD17 Gene DYT26, myoclonic NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with KCTD17 Gene DYT26, myoclonic

Detail Description

KCTD17 Gene DYT26: Understanding Symptoms, Diagnosis and NGS Genetic DNA Test Cost

DYT26 is a rare genetic disorder that falls under the category of dystonia. It is caused by mutations in the KCTD17 gene, which is responsible for encoding a protein that helps in regulating the activity of a neurotransmitter called GABA. GABA is involved in the modulation of muscle movements, and its dysfunction can lead to involuntary muscle contractions and spasms, which are the hallmark symptoms of dystonia.

Symptoms of DYT26

The symptoms of DYT26 usually manifest in early childhood or adolescence and worsen over time. The severity and pattern of symptoms may vary from person to person, but the most common symptoms include:

• Involuntary muscle contractions and spasms
• Tremors or shaking
• Abnormal postures
• Difficulty in initiating or controlling movements
• Speech difficulties

Diagnosis of DYT26

Diagnosis of DYT26 usually involves a combination of clinical evaluation, genetic testing, and neuroimaging studies. A neurologist or a movement disorder specialist may perform a physical examination to assess the severity and pattern of symptoms. They may also order tests such as electromyography (EMG) or magnetic resonance imaging (MRI) to rule out other neurological conditions that may mimic dystonia.

Genetic testing is the most definitive way to diagnose DYT26. A simple blood or saliva sample is collected from the patient, and the DNA is sequenced using next-generation sequencing (NGS) technology. The test looks for mutations in the KCTD17 gene and can confirm the diagnosis of DYT26.

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA testing for DYT26 may vary depending on the testing facility, the location, and the extent of the genetic analysis. In India, the cost of NGS genetic DNA testing for DYT26 may range from INR 15,000 to INR 25,000. However, it is important to note that this cost may not include the consultation fees of the specialist or the cost of additional tests that may be required for diagnosis.

Conclusion

DYT26 is a rare genetic disorder that can have a significant impact on the quality of life of affected individuals. Early diagnosis and intervention can help in managing the symptoms and improving the prognosis. NGS genetic DNA testing is the most reliable way to diagnose DYT26, and its cost may vary depending on several factors. If you or your loved ones are experiencing symptoms of dystonia, it is important to consult a specialist and get a timely diagnosis.

At DNA Labs India, we offer comprehensive genetic testing services for various neurological disorders, including DYT26. Our state-of-the-art NGS technology and experienced team of geneticists ensure accurate and timely diagnosis. Contact us today to know more about our services.

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 KCTD17 Gene DYT26, myoclonic NGS Genetic DNA Test