Short Description

NGS genetic DNA test detecets for variant and mutation detection in BOLA3 gene for Multiple mitochondrial dysfunctions syndrome type 2

PreTest Information

Clinical History of Patient who is going for BOLA3 Gene Multiple mitochondrial dysfunctions syndrome type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with BOLA3 Gene Multiple mitochondrial dysfunctions syndrome type 2

Detail Description

BOLA3 Gene Multiple Mitochondrial Dysfunctions Syndrome Type 2 NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Multiple Mitochondrial Dysfunctions Syndrome Type 2 is a rare genetic disorder that affects the functioning of mitochondria in the body. Mitochondria are organelles present in every cell of the body that are responsible for producing energy. Multiple mitochondrial dysfunctions syndrome type 2 is caused by mutations in the BOLA3 gene, which encodes a protein that is involved in the assembly of iron-sulfur clusters. Iron-sulfur clusters are important cofactors in many enzymes involved in energy production and other cellular processes.

Symptoms of Multiple Mitochondrial Dysfunctions Syndrome Type 2

The symptoms of Multiple Mitochondrial Dysfunctions Syndrome Type 2 can vary widely from person to person. Some of the most common symptoms include:

• Developmental delay
• Intellectual disability
• Muscle weakness
• Progressive neurological deterioration
• Seizures
• Vision loss

The severity of these symptoms can also vary widely, with some people experiencing only mild symptoms while others experience severe disability.

Diagnosis of Multiple Mitochondrial Dysfunctions Syndrome Type 2

Diagnosis of Multiple Mitochondrial Dysfunctions Syndrome Type 2 is typically done through genetic testing. Specifically, next-generation sequencing (NGS) of the BOLA3 gene can identify mutations that cause this disorder. Other tests that may be used to diagnose this disorder include:

• Blood tests
• Urine tests
• Muscle biopsy
• Electroencephalogram (EEG)
• Magnetic resonance imaging (MRI)

If you suspect that you or a loved one may have Multiple Mitochondrial Dysfunctions Syndrome Type 2, it is important to speak with a healthcare professional who can perform the necessary tests and provide an accurate diagnosis.

NGS Genetic DNA Test Cost INR 20000

DNA Labs India offers NGS genetic DNA testing for Multiple Mitochondrial Dysfunctions Syndrome Type 2 at a cost of INR 20000. This test is a comprehensive genetic analysis that can identify mutations in the BOLA3 gene that cause this disorder. The test is performed on a blood or saliva sample, and results are typically available within a few weeks.

Conclusion

Multiple Mitochondrial Dysfunctions Syndrome Type 2 is a rare genetic disorder that affects the functioning of mitochondria in the body. Symptoms can vary widely from person to person, and diagnosis is typically done through genetic testing. DNA Labs India offers NGS genetic DNA testing for this disorder at a cost of INR 20000. If you suspect that you or a loved one may have Multiple Mitochondrial Dysfunctions Syndrome Type 2, it is important to speak with a healthcare professional who can perform the necessary tests and provide an accurate diagnosis.