Short Description

NGS genetic DNA test detecets for variant and mutation detection in NDUFAF3 gene for Mitochondrial complex I deficiency

PreTest Information

Clinical History of Patient who is going for NDUFAF3 Gene Mitochondrial complex I deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with NDUFAF3 Gene Mitochondrial complex I deficiency

Detail Description

NDUFAF3 Gene Mitochondrial Complex I Deficiency NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

NDUFAF3 gene is a protein-coding gene that plays an important role in the functioning of Mitochondrial Complex I. Mitochondrial Complex I is a large protein complex that helps in the production of energy in the form of ATP. Deficiency of Mitochondrial Complex I can lead to various diseases and disorders. NDUFAF3 gene Mutations are one of the causes of Mitochondrial Complex I Deficiency.

NGS (Next-Generation Sequencing) Genetic DNA test is a powerful tool that can help in the diagnosis of Mitochondrial Complex I Deficiency. NGS Genetic DNA Test examines the DNA sequence of the NDUFAF3 gene and identifies any mutations or abnormalities in the gene. The cost of NGS Genetic DNA Test for Mitochondrial Complex I Deficiency in India is around INR 20000.

Symptoms of Mitochondrial Complex I Deficiency

The symptoms of Mitochondrial Complex I Deficiency can vary depending on the severity of the deficiency and the organs affected. Some of the common symptoms of Mitochondrial Complex I Deficiency are:

• Developmental delays
• Seizures
• Muscle weakness and fatigue
• Difficulty in breathing
• Poor growth and feeding difficulties
• Vision and hearing problems
• Heart abnormalities

It is important to note that not all individuals with Mitochondrial Complex I Deficiency will have all these symptoms. Some individuals may have only a few symptoms, while others may have many.

Diagnosis of Mitochondrial Complex I Deficiency

Diagnosis of Mitochondrial Complex I Deficiency can be challenging as the symptoms can be non-specific and can vary widely. NGS Genetic DNA Test is one of the diagnostic tools that can help in the diagnosis of Mitochondrial Complex I Deficiency. Other diagnostic tests include:

• Blood tests
• Urine tests
• Electromyography (EMG)
• Muscle biopsy
• Brain imaging

It is important to consult a genetic counselor or a healthcare provider if you suspect that you or your child may have Mitochondrial Complex I Deficiency.

Conclusion

Mitochondrial Complex I Deficiency can cause a range of symptoms and can be challenging to diagnose. NGS Genetic DNA Test is a powerful tool that can help in the diagnosis of Mitochondrial Complex I Deficiency. The cost of NGS Genetic DNA Test for Mitochondrial Complex I Deficiency in India is around INR 20000. If you suspect that you or your child may have Mitochondrial Complex I Deficiency, it is important to consult a genetic counselor or a healthcare provider.

At DNA Labs India, we provide reliable and accurate NGS Genetic DNA Test for Mitochondrial Complex I Deficiency. Our team of experts and genetic counselors are always available to answer any questions that you may have. Contact us today to learn more about our services.