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TH Gene Segawa syndrome, autosomal recessive NGS Genetic DNA Test Cost 20000 Rs
TH Gene Segawa syndrome, autosomal recessive NGS Genetic DNA Test Details
TH Gene Segawa Syndrome: Symptoms, Diagnosis and Genetic DNA Test Cost in India
Segawa Syndrome, also known as Dopa-Responsive Dystonia (DRD), is a rare neurological disorder that affects the way the brain communicates with the muscles. The condition is caused by mutations in the TH gene, which provides instructions for making an enzyme called tyrosine hydroxylase. This enzyme is responsible for the production of dopamine, a chemical messenger that helps to regulate movement and emotions.
Segawa Syndrome is an autosomal recessive disorder, which means that a person must inherit two copies of the mutated TH gene (one from each parent) to develop the condition. The symptoms of Segawa Syndrome usually appear in childhood or adolescence and can vary in severity from mild to severe.
Symptoms of Segawa Syndrome
The symptoms of Segawa Syndrome can include:
- Difficulty with movement, such as stiffness, tremors, or difficulty walking
- Abnormal posture, such as leaning forward or backward
- Involuntary muscle contractions
- Difficulty with fine motor skills, such as writing or buttoning clothes
- Speech difficulties
- Mood swings or behavioral problems
Diagnosis of Segawa Syndrome
Segawa Syndrome is diagnosed based on clinical symptoms, family history, and genetic testing. A neurologist or genetic counselor will conduct a thorough evaluation of the patient's symptoms and medical history, as well as perform a physical exam and neurological testing. Genetic testing, such as Next-Generation Sequencing (NGS), can be used to confirm the diagnosis and identify the specific mutation in the TH gene.
Genetic DNA Test Cost in India
The cost of genetic testing for Segawa Syndrome in India can vary depending on the type of test and the laboratory conducting the test. Next-Generation Sequencing (NGS) is a common genetic testing method used to identify mutations in the TH gene. The cost of NGS testing for Segawa Syndrome in India can range from INR 20,000 to INR 50,000.
Conclusion
Segawa Syndrome is a rare neurological disorder caused by mutations in the TH gene. The condition is characterized by difficulty with movement, abnormal posture, and involuntary muscle contractions. Genetic testing, such as NGS, can be used to confirm the diagnosis and identify the specific mutation in the TH gene. The cost of genetic testing for Segawa Syndrome in India can vary depending on the type of test and the laboratory conducting the test.
At DNA Labs India, we offer a range of genetic testing services, including NGS testing for Segawa Syndrome. Our team of experienced genetic counselors and laboratory professionals are committed to providing accurate and timely results to our patients. Contact us today to learn more about our genetic testing 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 TH Gene Segawa syndrome, autosomal recessive NGS Genetic DNA Test
