Short Description

NGS genetic DNA test detecets for variant and mutation detection in RAB3GAP2 gene for Warburg micro syndrome type 2

PreTest Information

Clinical History of Patient who is going for RAB3GAP2 Gene Warburg micro syndrome type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with RAB3GAP2 Gene Warburg micro syndrome type 2 NGS Genetic DNA Test gene RAB3GAP2

Detail Description

RAB3GAP2 Gene and Warburg Micro Syndrome Type 2

Warburg Micro Syndrome Type 2 is a rare genetic disorder that affects the development of the brain, eyes, and other parts of the body. The syndrome is caused by mutations in the RAB3GAP2 gene, which provides instructions for making a protein that is essential for the proper functioning of cells.

The RAB3GAP2 gene is located on chromosome 1 and is responsible for producing a protein that is involved in the transport of molecules between cells. Mutations in this gene can disrupt the normal functioning of cells, leading to the development of Warburg Micro Syndrome Type 2.

Symptoms of Warburg Micro Syndrome Type 2

Individuals with Warburg Micro Syndrome Type 2 typically have a combination of symptoms that affect various parts of the body, including:

• Seizures
• Intellectual disability
• Visual impairment
• Abnormal muscle tone
• Abnormalities in the brain structure
• Malformations of the eyes, such as microphthalmia or optic atrophy
• Feeding difficulties
• Delayed development

Diagnosis of Warburg Micro Syndrome Type 2

Diagnosis of Warburg Micro Syndrome Type 2 typically involves a physical examination, medical history, and genetic testing. Genetic testing can be done using NGS (next-generation sequencing) technology to identify mutations in the RAB3GAP2 gene.

NGS Genetic DNA Test cost INR:20000

It is important to note that genetic testing is not always necessary to diagnose Warburg Micro Syndrome Type 2. A diagnosis can also be made based on clinical symptoms and physical examination.

Treatment of Warburg Micro Syndrome Type 2

There is currently no cure for Warburg Micro Syndrome Type 2. Treatment is focused on managing the symptoms of the disorder and providing supportive care to affected individuals. This may include medications to control seizures, feeding tubes for individuals with feeding difficulties, and physical therapy to improve muscle tone and mobility.

Conclusion

Warburg Micro Syndrome Type 2 is a rare genetic disorder that affects the development of the brain, eyes, and other parts of the body. It is caused by mutations in the RAB3GAP2 gene, which provides instructions for making a protein that is essential for the proper functioning of cells. Diagnosis of the disorder typically involves a physical examination, medical history, and genetic testing using NGS technology. While there is currently no cure for Warburg Micro Syndrome Type 2, treatment is available to manage the symptoms of the disorder and provide supportive care to affected individuals.