Short Description

NGS genetic DNA test detecets for variant and mutation detection in EXOSC3 gene for Pontocerebellar hypoplasia type 1B

PreTest Information

Clinical History of Patient who is going for EXOSC3 Gene Pontocerebellar hypoplasia type 1B NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with EXOSC3 Gene Pontocerebellar hypoplasia type 1B

Detail Description

EXOSC3 Gene Pontocerebellar Hypoplasia Type 1B NGS Genetic DNA Test

Pontocerebellar hypoplasia type 1B is a rare genetic disorder that affects the development of the brain. This disorder is caused by mutations in the EXOSC3 gene. The EXOSC3 gene provides instructions for making a protein that is part of a complex called the exosome. The exosome is involved in the processing of RNA, which is a molecule that carries genetic information.

Symptoms of Pontocerebellar Hypoplasia Type 1B

The symptoms of pontocerebellar hypoplasia type 1B vary from person to person and can range from mild to severe. Some of the common symptoms include:

• Delayed development
• Weak muscle tone
• Difficulty with coordination and balance
• Seizures
• Intellectual disability

Diagnosis of Pontocerebellar Hypoplasia Type 1B

The diagnosis of pontocerebellar hypoplasia type 1B is made through genetic testing. A sample of DNA is taken from the patient and analyzed for mutations in the EXOSC3 gene. This can be done through a variety of methods, including:

• Next-generation sequencing (NGS)
• Sanger sequencing
• PCR analysis

NGS Genetic DNA Test

Next-generation sequencing (NGS) is a powerful tool that allows for the analysis of multiple genes at once. This technology can be used to analyze the EXOSC3 gene and identify mutations that may be causing pontocerebellar hypoplasia type 1B. NGS is a highly accurate and efficient method of genetic testing that can provide a diagnosis in a timely manner.

Cost of NGS Genetic DNA Test

The cost of the NGS genetic DNA test for pontocerebellar hypoplasia type 1B varies depending on the laboratory and location. In India, the cost of this test is typically around INR 20,000. However, this cost may vary depending on the specific laboratory and any additional testing that may be required.

Conclusion

Pontocerebellar hypoplasia type 1B is a rare genetic disorder that can have a significant impact on a person's life. Genetic testing, such as NGS, can provide a diagnosis and help to guide treatment options. The cost of this testing may vary, but it is an important investment in the health and well-being of those affected by this disorder.

Pontocerebellar Hypoplasia (PCH) Type 1B is a rare genetic disorder that primarily affects the brain's development, particularly the pons and cerebellum. It is caused by mutations in the EXOSC3 gene.

The EXOSC3 gene encodes a component of the exosome complex, which is involved in RNA processing and degradation. Mutations in this gene can lead to abnormal RNA processing and potentially disrupt normal cellular functions critical for brain development.

A Next-Generation Sequencing (NGS) genetic DNA test for the EXOSC3 gene would involve sequencing the DNA of an individual to identify any variations or mutations within the gene that could be linked to Pontocerebellar Hypoplasia Type 1B. This type of test can aid in confirming a diagnosis, providing information for medical management, and assisting with genetic counseling.

If you suspect that someone might have Pontocerebellar Hypoplasia Type 1B or if there's a family history of the condition, it's important to consult with a medical geneticist or a healthcare professional with expertise in genetics. They can guide you through the process of genetic testing, provide appropriate counseling, and help interpret the test results. Genetic testing can offer valuable insights into the genetic basis of the condition and assist in making informed medical decisions.