Short Description

NGS genetic DNA test detecets for variant and mutation detection in NDUFA11 gene for Mitochondrial complex I deficiency

PreTest Information

Clinical History of Patient who is going for NDUFA11 Gene Mitochondrial complex I deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with NDUFA11 Gene Mitochondrial complex I deficiency

Detail Description

NDUFA11 Gene Mitochondrial Complex I Deficiency NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

NDUFA11 gene is a gene that encodes the NADH-ubiquinone oxidoreductase subunit A11. It is located in the mitochondria and is responsible for the function of mitochondrial complex I. Mitochondrial complex I deficiency is a rare genetic disorder that affects the respiratory chain function of the mitochondria. It is a genetic disorder that is caused by mutations in the genes that encode the subunits of mitochondrial complex I.

Symptoms of NDUFA11 Gene Mitochondrial Complex I Deficiency

The symptoms of NDUFA11 gene mitochondrial complex I deficiency can vary widely, and they can be mild or severe. Some of the common symptoms of this condition include:

• Developmental delay
• Seizures
• Weak muscle tone
• Impaired vision or blindness
• Heart problems
• Lactic acidosis
• Difficulty swallowing
• Respiratory problems
• Intellectual disability

Diagnosis of NDUFA11 Gene Mitochondrial Complex I Deficiency

The diagnosis of NDUFA11 gene mitochondrial complex I deficiency can be made through genetic testing. This involves analyzing a sample of DNA for mutations in the NDUFA11 gene. Other diagnostic tests that may be performed include:

• Blood tests to measure lactate and other metabolites
• Electroencephalogram (EEG) to detect abnormal brain waves
• Muscle biopsy to evaluate mitochondrial function
• Brain imaging to detect abnormalities

NGS Genetic DNA Test Cost INR:20000

The cost of NGS genetic DNA test for NDUFA11 gene mitochondrial complex I deficiency in India is INR:20000. This test is performed by DNA Labs India, a leading genetics laboratory in India. The test involves sequencing the NDUFA11 gene to detect mutations that may be responsible for the condition. The test is performed using next-generation sequencing (NGS) technology, which allows for the rapid and accurate analysis of genetic information.

Conclusion

NDUFA11 gene mitochondrial complex I deficiency is a rare genetic disorder that affects the function of the mitochondria. It can cause a range of symptoms, including developmental delay, seizures, weak muscle tone, impaired vision, heart problems, lactic acidosis, difficulty swallowing, respiratory problems, and intellectual disability. The diagnosis of this condition can be made through genetic testing and other diagnostic tests. The cost of NGS genetic DNA test for NDUFA11 gene mitochondrial complex I deficiency in India is INR:20000. If you suspect that you or your child may have this condition, it is important to speak with a healthcare professional to discuss testing and treatment options.

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 NDUFA11 Gene Mitochondrial complex I deficiency NGS Genetic DNA Test