Short Description

NGS genetic DNA test detecets for variant and mutation detection in EXOSC8 gene for Joubert syndrome, EXOSC8 related

PreTest Information

Clinical History of Patient who is going for EXOSC8 Gene Joubert syndrome, EXOSC8 related NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with EXOSC8 Gene Joubert syndrome, EXOSC8 related

Detail Description

EXOSC8 Gene and Joubert Syndrome: Symptoms, Diagnosis and Genetic Testing Cost in India

Joubert Syndrome is a rare genetic disorder that affects the development of the cerebellum, which is the part of the brain that controls balance and coordination. It is characterized by a specific brain malformation known as the "molar tooth sign," which can be seen on brain imaging scans.

Recent studies have identified a gene known as EXOSC8, which is associated with Joubert Syndrome. This gene is responsible for producing a protein that is essential for the normal development of the cerebellum. Mutations in the EXOSC8 gene can lead to a deficiency of this protein, resulting in the development of Joubert Syndrome.

Symptoms of Joubert Syndrome

The symptoms of Joubert Syndrome can vary widely from person to person, depending on the severity of the malformation and the presence of other associated abnormalities. Some of the common symptoms include:

• Abnormal eye movements
• Poor muscle tone
• Developmental delays
• Cognitive impairment
• Breathing abnormalities
• Abnormalities of the hands and feet
• Kidney abnormalities

Diagnosis of Joubert Syndrome

Joubert Syndrome is usually diagnosed based on the presence of the "molar tooth sign" on brain imaging scans, along with the presence of other characteristic symptoms. Genetic testing may also be used to confirm the diagnosis and identify the specific gene mutation responsible for the disorder.

EXOSC8 Gene and Joubert Syndrome

Recent research has identified the EXOSC8 gene as a major contributor to the development of Joubert Syndrome. This gene produces a protein that is essential for the normal development of the cerebellum. Mutations in the EXOSC8 gene can lead to a deficiency of this protein, resulting in the development of Joubert Syndrome.

Genetic Testing for EXOSC8 Gene Mutations

Genetic testing is available to identify mutations in the EXOSC8 gene that may be responsible for Joubert Syndrome. This testing can be performed using Next-Generation Sequencing (NGS) technology, which allows for the rapid and accurate detection of genetic mutations. The cost of this testing in India is approximately INR 20,000.

Conclusion

Joubert Syndrome is a rare genetic disorder that can cause a wide range of symptoms, including abnormalities of the cerebellum, developmental delays, and cognitive impairment. The EXOSC8 gene has been identified as a major contributor to the development of this disorder, and genetic testing is available to identify mutations in this gene. If you suspect that you or a loved one may have Joubert Syndrome, it is important to seek medical attention and undergo genetic testing to confirm the diagnosis and receive appropriate treatment.

For more information on genetic testing and Joubert Syndrome, visit DNA Labs India.

Joubert syndrome is a rare genetic disorder characterized by a group of symptoms that primarily affect the brain and can lead to various physical, developmental, and cognitive challenges. The EXOSC8 gene is associated with a subtype of Joubert syndrome known as Joubert syndrome 15 (JBTS15), which is caused by mutations in the EXOSC8 gene.

The EXOSC8 gene encodes a protein that is part of the exosome complex, which is involved in RNA processing and degradation. Mutations in the EXOSC8 gene can disrupt the normal functioning of this complex, affecting cellular processes that are critical for brain development and function.

A Next-Generation Sequencing (NGS) genetic DNA test for the EXOSC8 gene would involve sequencing the DNA of an individual to identify any variations or mutations within the gene that could be linked to Joubert syndrome, specifically the EXOSC8-related subtype. 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 Joubert syndrome 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.