Short Description

NGS genetic DNA test detecets for variant and mutation detection in RRM2B gene for Mitochondrial DNA depletion syndrome 8B, MNGIE type

PreTest Information

Clinical History of Patient who is going for RRM2B Gene Mitochondrial DNA depletion syndrome 8B, MNGIE type NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with RRM2B Gene Mitochondrial DNA depletion syndrome 8B, MNGIE type

Detail Description

RRM2B Gene Mitochondrial DNA Depletion Syndrome 8B, MNGIE Type NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

RRM2B Gene Mitochondrial DNA Depletion Syndrome 8B, MNGIE Type is a rare genetic disorder that affects mitochondrial DNA. This disorder is caused by mutations in the RRM2B gene, which is responsible for providing instructions to create an enzyme that is essential for the production of mitochondrial DNA. Mitochondrial DNA depletion syndrome 8B, MNGIE type is a progressive disease that affects multiple organ systems and can lead to severe disability or death if left untreated.

Symptoms of RRM2B Gene Mitochondrial DNA Depletion Syndrome 8B, MNGIE Type

The symptoms of RRM2B Gene Mitochondrial DNA Depletion Syndrome 8B, MNGIE Type can vary from person to person. Some of the common symptoms include:

• Progressive muscle weakness
• Difficulty swallowing
• Digestive problems
• Blindness or vision loss
• Hearing loss
• Developmental delays

These symptoms usually appear in childhood, but can also appear in adulthood. The severity of symptoms can also vary depending on the individual and the specific mutation in the RRM2B gene.

Diagnosis of RRM2B Gene Mitochondrial DNA Depletion Syndrome 8B, MNGIE Type

Diagnosis of RRM2B Gene Mitochondrial DNA Depletion Syndrome 8B, MNGIE Type usually involves a combination of physical exams, medical history, and genetic testing. A blood sample is usually taken to test for mutations in the RRM2B gene. A muscle biopsy may also be done to examine mitochondrial function.

NGS Genetic DNA Test Cost INR:20000

The NGS Genetic DNA Test cost for RRM2B Gene Mitochondrial DNA Depletion Syndrome 8B, MNGIE Type is INR:20000. This test is performed using Next Generation Sequencing (NGS) technology, which allows for the rapid and accurate sequencing of large amounts of DNA. The test can detect mutations in the RRM2B gene with high accuracy and can be used for both diagnosis and carrier testing.

Conclusion

RRM2B Gene Mitochondrial DNA Depletion Syndrome 8B, MNGIE Type is a rare genetic disorder that can have severe consequences if left untreated. Early diagnosis and treatment can help manage symptoms and improve quality of life. The NGS Genetic DNA Test cost for RRM2B Gene Mitochondrial DNA Depletion Syndrome 8B, MNGIE Type is INR:20000, and can be used for both diagnosis and carrier testing.

If you suspect that you or a loved one may have RRM2B Gene Mitochondrial DNA Depletion Syndrome 8B, MNGIE Type, it is important to seek medical attention as soon as possible.

For more information on genetic testing and diagnosis, contact DNA Labs India.

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 RRM2B Gene Mitochondrial DNA depletion syndrome 8B, MNGIE type NGS Genetic DNA Test