Short Description

NGS genetic DNA test detecets for variant and mutation detection in UQCC2 gene for Mitochondrial complex III deficiency, nuclear type 7

PreTest Information

Clinical History of Patient who is going for UQCC2 Gene Mitochondrial complex III deficiency, nuclear type 7 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with UQCC2 Gene Mitochondrial complex III deficiency, nuclear type 7 NGS Genetic DNA Test gene UQCC2

Detail Description

UQCC2 Gene Mitochondrial Complex III Deficiency: Symptoms, Diagnosis and NGS Genetic DNA Test Cost

UQCC2 Gene Mitochondrial Complex III Deficiency, Nuclear Type 7 is a rare genetic disorder that affects the way the body produces energy. This condition is caused by mutations in the UQCC2 gene, which is responsible for making a protein that is essential for the proper functioning of the mitochondrial complex III. This complex is crucial for the production of ATP, the molecule that provides energy for the body’s cells.

Symptoms of UQCC2 Gene Mitochondrial Complex III Deficiency

The symptoms of UQCC2 Gene Mitochondrial Complex III Deficiency vary greatly from person to person. Some people may have no symptoms at all, while others may experience a range of symptoms that affect multiple body systems. Common symptoms of UQCC2 Gene Mitochondrial Complex III Deficiency include:

• Developmental delay
• Intellectual disability
• Muscle weakness
• Lactic acidosis
• Seizures
• Respiratory problems
• Vision problems
• Hearing loss
• Heart abnormalities

Diagnosis of UQCC2 Gene Mitochondrial Complex III Deficiency

Diagnosing UQCC2 Gene Mitochondrial Complex III Deficiency can be challenging, as the symptoms can be similar to those of other conditions. However, there are several tests that can help confirm a diagnosis. These include:

• Blood tests to measure levels of lactate and other metabolites
• Genetic testing to look for mutations in the UQCC2 gene
• Biopsy of muscle tissue to examine the mitochondria
• Electroencephalogram (EEG) to look for abnormal brain activity
• Electromyography (EMG) to evaluate muscle function

NGS Genetic DNA Test Cost for UQCC2 Gene Mitochondrial Complex III Deficiency

The NGS Genetic DNA Test Cost for UQCC2 Gene Mitochondrial Complex III Deficiency in India is approximately INR 20,000. This test uses next-generation sequencing technology to look for mutations in the UQCC2 gene. The test is highly accurate and can help confirm a diagnosis of UQCC2 Gene Mitochondrial Complex III Deficiency.

Conclusion

UQCC2 Gene Mitochondrial Complex III Deficiency, Nuclear Type 7 is a rare genetic disorder that affects the way the body produces energy. The symptoms of this condition can vary greatly from person to person, and diagnosing it can be challenging. However, with the help of blood tests, genetic testing, muscle biopsy, EEG, and EMG, a diagnosis can be confirmed. The NGS Genetic DNA Test for UQCC2 Gene Mitochondrial Complex III Deficiency costs approximately INR 20,000 in India and can help provide an accurate diagnosis.

If you or someone you know is experiencing symptoms of UQCC2 Gene Mitochondrial Complex III Deficiency, it is important to seek medical attention as soon as possible. Early diagnosis and treatment can help improve outcomes and quality of life.

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 UQCC2 Gene Mitochondrial complex III deficiency, nuclear type 7 NGS Genetic DNA Test