Short Description

NGS genetic DNA test detecets for variant and mutation detection in NDUFB3 gene for Mitochondrial complex I deficiency

PreTest Information

Clinical History of Patient who is going for NDUFB3 Gene Mitochondrial complex I deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with NDUFB3 Gene Mitochondrial complex I deficiency

Detail Description

NDUFB3 Gene Mitochondrial Complex I Deficiency NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

DNA Labs India offers NDUFB3 Gene Mitochondrial Complex I Deficiency NGS Genetic DNA Test at an affordable cost of INR 20,000. This test is used to diagnose mitochondrial complex I deficiency, which is caused by mutations in the NDUFB3 gene. This condition can cause a range of symptoms, which we will discuss in this blog.

What is Mitochondrial Complex I Deficiency?

Mitochondrial complex I deficiency is a rare genetic disorder that affects the mitochondria, which are the energy-producing organelles in the cells. This disorder is caused by mutations in genes that are involved in the production of energy within the mitochondria. One of these genes is NDUFB3, which codes for a protein that is a component of complex I.

Complex I is one of the five complexes involved in the electron transport chain, which is responsible for producing ATP, the energy currency of the cell. When complex I is not functioning properly, the production of ATP is reduced, which can cause a range of symptoms.

Symptoms of Mitochondrial Complex I Deficiency

The symptoms of mitochondrial complex I deficiency can vary widely, depending on the severity of the condition and the age of onset. Some of the common symptoms include:

• Muscle weakness and fatigue
• Poor muscle coordination
• Developmental delays
• Intellectual disability
• Seizures
• Visual impairment
• Hearing loss
• Heart defects

These symptoms can be mild or severe, and may appear at any age, from infancy to adulthood.

Diagnosis of Mitochondrial Complex I Deficiency

The diagnosis of mitochondrial complex I deficiency is based on a combination of clinical symptoms, biochemical tests, and genetic testing. Biochemical tests can help to measure the levels of ATP production in the mitochondria, while genetic testing can identify mutations in genes that are associated with the disorder.

DNA Labs India offers NDUFB3 Gene Mitochondrial Complex I Deficiency NGS Genetic DNA Test to diagnose this condition. This test uses Next Generation Sequencing (NGS) technology to analyze the entire coding region of the NDUFB3 gene, which can identify mutations that may be causing the condition. The test has a turnaround time of 2-3 weeks and costs INR 20,000.

Conclusion

Mitochondrial complex I deficiency is a rare genetic disorder that can cause a range of symptoms, including muscle weakness, developmental delays, and heart defects. The disorder is caused by mutations in genes that are involved in the production of energy within the mitochondria. DNA Labs India offers NDUFB3 Gene Mitochondrial Complex I Deficiency NGS Genetic DNA Test at an affordable cost of INR 20,000 to diagnose this condition. If you or a loved one is experiencing symptoms of mitochondrial complex I deficiency, talk to your doctor about genetic testing.

For more information about genetic testing, visit https://dnalabsindia.com.

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 NDUFB3 Gene Mitochondrial complex I deficiency NGS Genetic DNA Test