Short Description

NGS genetic DNA test detecets for variant and mutation detection in TTC19 gene for Mitochondrial complex III deficiency, nuclear type 2

PreTest Information

Clinical History of Patient who is going for TTC19 Gene Mitochondrial complex III deficiency, nuclear type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TTC19 Gene Mitochondrial complex III deficiency, nuclear type 2

Detail Description

TTC19 Gene Mitochondrial Complex III Deficiency, Nuclear Type 2 NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

DNA Labs India offers a comprehensive genetic testing package for TTC19 Gene Mitochondrial Complex III Deficiency, Nuclear Type 2. This test is designed to identify genetic mutations in the TTC19 gene that may result in mitochondrial complex III deficiency. The test is performed using Next-Generation Sequencing (NGS) technology and costs INR 20,000.

What is Mitochondrial Complex III Deficiency?

Mitochondrial complex III deficiency is a rare genetic disorder that affects the function of mitochondria, the energy-producing structures within cells. Mitochondria are responsible for producing ATP, the main source of energy for the body. When the mitochondria are not functioning properly, cells cannot produce enough ATP, which can lead to a wide range of symptoms.

There are several types of mitochondrial complex III deficiency, including nuclear and mitochondrial types. Nuclear types are caused by mutations in genes located in the nucleus of the cell, while mitochondrial types are caused by mutations in genes located in the mitochondria themselves.

What is the TTC19 Gene?

The TTC19 gene provides instructions for making a protein that is part of the mitochondrial complex III enzyme. This enzyme is involved in the electron transport chain, which is responsible for producing ATP. Mutations in the TTC19 gene can result in mitochondrial complex III deficiency.

What are the Symptoms of Mitochondrial Complex III Deficiency?

The symptoms of mitochondrial complex III deficiency can vary widely depending on the severity of the condition and which tissues or organs are affected. Some common symptoms include:

• Muscle weakness and fatigue
• Exercise intolerance
• Developmental delays
• Neurological problems, such as seizures and intellectual disability
• Respiratory problems
• Heart problems

How is Mitochondrial Complex III Deficiency Diagnosed?

Diagnosing mitochondrial complex III deficiency can be challenging because the symptoms can be similar to those of other conditions. However, genetic testing can help identify mutations in the TTC19 gene that are associated with this condition.

The TTC19 Gene Mitochondrial Complex III Deficiency, Nuclear Type 2 NGS Genetic DNA Test offered by DNA Labs India uses NGS technology to identify mutations in the TTC19 gene. This test is highly accurate and can help diagnose mitochondrial complex III deficiency in patients with suspected symptoms.

Conclusion

If you or someone you know is experiencing symptoms of mitochondrial complex III deficiency, it is important to seek medical attention. The TTC19 Gene Mitochondrial Complex III Deficiency, Nuclear Type 2 NGS Genetic DNA Test offered by DNA Labs India can help diagnose this condition and provide valuable information for treatment and management. Contact DNA Labs India today to learn more about this test and other genetic testing services.

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 TTC19 Gene Mitochondrial complex III deficiency, nuclear type 2 NGS Genetic DNA Test