Short Description

NGS genetic DNA test detecets for variant and mutation detection in NDUFAF5 gene for Mitochondrial complex I deficiency

PreTest Information

Clinical History of Patient who is going for NDUFAF5 Gene Mitochondrial complex I deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with NDUFAF5 Gene Mitochondrial complex I deficiency

Detail Description

NDUFAF5 Gene Mitochondrial Complex I Deficiency NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

DNA Labs India offers advanced genetic testing services for mitochondrial disorders, including NDUFAF5 gene mutations that cause complex I deficiency. Mitochondrial complex I is a critical component of the electron transport chain that produces ATP, the energy currency of the cell. Mutations in the NDUFAF5 gene can impair complex I function, leading to a wide range of symptoms and clinical presentations.

Symptoms of NDUFAF5 Gene Mutations

The symptoms of complex I deficiency can vary widely, depending on the severity and location of the mutation. Some common symptoms include:

• Developmental delays
• Intellectual disability
• Seizures
• Muscle weakness
• Ataxia
• Hypotonia
• Cardiomyopathy
• Respiratory failure
• Lactic acidosis

These symptoms can be present in infancy or childhood, and may worsen over time. Some individuals with complex I deficiency may have a milder form of the disorder, with symptoms that develop later in life. Others may have a more severe form, with symptoms that are apparent at birth.

Diagnosis of NDUFAF5 Gene Mutations

Diagnosis of complex I deficiency can be challenging, as there are many different genes that can be involved. At DNA Labs India, we use next-generation sequencing (NGS) to analyze multiple genes at once, including NDUFAF5. This approach allows us to identify mutations that may be missed by other testing methods.

If a mutation is identified, further testing may be recommended to confirm the diagnosis and determine the severity of the disorder. This may include muscle biopsy, imaging studies, and metabolic testing.

NGS Genetic DNA Test Cost

The cost of the NGS genetic DNA test for NDUFAF5 gene mutations is INR:20000. This includes the cost of sample collection, testing, and interpretation. Our testing is performed in a state-of-the-art laboratory using advanced technology and techniques.

Why Choose DNA Labs India for NGS Genetic DNA Testing?

At DNA Labs India, we are committed to providing high-quality genetic testing services to our clients. Our team of experienced scientists and genetic counselors are dedicated to helping individuals and families understand the underlying causes of their medical conditions. We use the latest technology and techniques to ensure accurate and reliable testing results.

In addition to our expertise in mitochondrial disorders, we offer a wide range of genetic testing services for other conditions, including cancer, cardiovascular disease, and inherited disorders. We are committed to providing personalized care and support to each of our clients.

Conclusion

If you or a loved one are experiencing symptoms of complex I deficiency, DNA Labs India can help. Our NGS genetic DNA test for NDUFAF5 gene mutations is an accurate and reliable way to diagnose this disorder. With our state-of-the-art laboratory and team of experienced professionals, we are committed to providing the best possible care to our clients. Contact us today to learn more about our services and how we can help you.

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 NDUFAF5 Gene Mitochondrial complex I deficiency NGS Genetic DNA Test