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Accurate Test Results for TSEN54 Gene Pontocerebellar hypoplasia type 5 NGS Genetic DNA Test
TSEN54 Gene Pontocerebellar hypoplasia type 5 NGS Genetic DNA Test Cost 20000 Rs
TSEN54 Gene Pontocerebellar hypoplasia type 5 NGS Genetic DNA Test Details
TSEN54 Gene Pontocerebellar Hypoplasia Type 5 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis
Pontocerebellar hypoplasia type 5 (PCH5) is a rare genetic disorder that affects the development of the brain. It is caused by mutations in the TSEN54 gene, which is responsible for the production of a protein that plays a critical role in the processing of transfer RNAs (tRNAs). The disorder is characterized by the underdevelopment of the cerebellum and brainstem, which can lead to a range of neurological symptoms.
If you or someone you know has symptoms of PCH5, it is important to seek medical attention and consider genetic testing. DNA Labs India offers a Next-Generation Sequencing (NGS) Genetic DNA Test for the TSEN54 gene, which can provide a definitive diagnosis of PCH5. The cost of the test is INR 20000.
Symptoms of PCH5
The symptoms of PCH5 can vary widely depending on the severity of the condition. Some common symptoms include:
- Delayed motor development
- Progressive muscle weakness
- Difficulty with coordination and balance
- Intellectual disability
- Seizures
- Abnormal eye movements
These symptoms typically begin in infancy or early childhood and may worsen over time. In some cases, affected individuals may also have difficulty with breathing and swallowing, which can be life-threatening.
Diagnosis of PCH5
Diagnosing PCH5 can be challenging, as the symptoms can resemble those of other neurological disorders. However, genetic testing can provide a definitive diagnosis.
The NGS Genetic DNA Test offered by DNA Labs India analyzes the TSEN54 gene to identify mutations that may be causing PCH5. The test is non-invasive and involves collecting a small sample of blood or saliva. Results are typically available within a few weeks.
Cost of the Test
The cost of the NGS Genetic DNA Test for the TSEN54 gene is INR 20000. This fee covers the cost of the test, as well as any counseling and support that may be needed before and after the test.
Conclusion
If you or someone you know is experiencing symptoms of PCH5, it is important to seek medical attention and consider genetic testing. The NGS Genetic DNA Test offered by DNA Labs India can provide a definitive diagnosis of PCH5 and help individuals and families better understand the condition. With a better understanding of the condition, affected individuals and their families can make more informed decisions about their medical care and treatment.
For more information about the test or to schedule an appointment, contact DNA Labs India today.
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 TSEN54 Gene Pontocerebellar hypoplasia type 5 NGS Genetic DNA Test
