Short Description

NGS genetic DNA test detecets for variant and mutation detection in TSEN54 gene for Pontocerebellar hypoplasia type 4

PreTest Information

Clinical History of Patient who is going for TSEN54 Gene Pontocerebellar hypoplasia type 4 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TSEN54 Gene Pontocerebellar hypoplasia type 4

Detail Description

TSEN54 Gene Pontocerebellar Hypoplasia Type 4 NGS Genetic DNA Test: Symptoms, Diagnosis and Cost

Pontocerebellar hypoplasia type 4 (PCH4) is a rare genetic disorder that affects the development of the brain. It is caused by mutations in the TSEN54 gene, which provides instructions for making a protein involved in the processing of RNA molecules. This disorder is characterized by abnormal development of the cerebellum and brainstem, leading to significant neurological symptoms.

Symptoms of PCH4

The symptoms of PCH4 can vary from person to person and can range from mild to severe. Some of the common symptoms include:

• Delayed developmental milestones
• Seizures
• Abnormal muscle tone
• Difficulties with feeding and swallowing
• Abnormal eye movements
• Intellectual disability

Diagnosis of PCH4

The diagnosis of PCH4 involves a combination of clinical examination, imaging studies, and genetic testing. A neurological examination can help identify the characteristic features of PCH4, such as abnormal eye movements and muscle tone. Imaging studies, such as magnetic resonance imaging (MRI), can show the abnormalities in the cerebellum and brainstem.

The definitive diagnosis of PCH4 is confirmed by genetic testing. Next-generation sequencing (NGS) genetic DNA testing can identify mutations in the TSEN54 gene. This test can help confirm the diagnosis and provide information about the inheritance pattern of the disorder.

Cost of TSEN54 Gene PCH4 NGS Genetic DNA Test

The cost of the TSEN54 gene PCH4 NGS genetic DNA test in India is approximately INR 20,000. This cost may vary depending on the testing facility and location. Some insurance companies may cover the cost of genetic testing, so it is important to check with your provider.

Conclusion

Pontocerebellar hypoplasia type 4 is a rare genetic disorder that affects the development of the brain. The symptoms can vary from person to person, and the diagnosis is confirmed by genetic testing. The cost of the TSEN54 gene PCH4 NGS genetic DNA test in India is approximately INR 20,000. If you suspect that you or a loved one may have PCH4, it is important to speak with a healthcare professional to determine the appropriate diagnostic testing and treatment options.

Contact DNA Labs India for TSEN54 Gene PCH4 NGS Genetic DNA Test.

https://dnalabsindia.com/

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 4 NGS Genetic DNA Test