Short Description

NGS genetic DNA test detecets for variant and mutation detection in NDUFA12 gene for Leigh syndrome due to mitochondrial complex I deficiency

PreTest Information

Clinical History of Patient who is going for NDUFA12 Gene Leigh syndrome due to mitochondrial complex I deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with NDUFA12 Gene Leigh syndrome due to mitochondrial complex I deficiency

Detail Description

NDUFA12 Gene Leigh Syndrome Due to Mitochondrial Complex I Deficiency NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Leigh Syndrome is a rare, inherited neurodegenerative disorder that usually affects infants and children. It is caused by a genetic mutation that affects the way mitochondria produce energy in cells. Mitochondria are the "powerhouses" of cells, responsible for generating the energy needed for cell functions. Leigh Syndrome is caused by mutations in any of the genes that encode proteins involved in the oxidative phosphorylation pathway of the mitochondria. One such gene is the NDUFA12 gene.

What is the NDUFA12 Gene?

The NDUFA12 gene provides instructions for making a protein called NADH-ubiquinone oxidoreductase subunit A12. This protein is a subunit of mitochondrial complex I, which is one of five protein complexes that make up the oxidative phosphorylation pathway in mitochondria. The oxidative phosphorylation pathway is responsible for the production of ATP, the energy currency of the cell. Mutations in the NDUFA12 gene can disrupt the function of mitochondrial complex I, leading to Leigh Syndrome.

What is Mitochondrial Complex I Deficiency?

Mitochondrial Complex I Deficiency is a condition in which there is a defect in the function of mitochondrial complex I. This can be caused by mutations in any of the genes that encode the proteins involved in the complex, including the NDUFA12 gene. Mitochondrial Complex I Deficiency can cause a wide range of symptoms, including:

• Developmental delays
• Intellectual disability
• Muscle weakness
• Seizures
• Abnormal eye movements
• Respiratory problems
• Lactic acidosis

What is NGS Genetic DNA Testing?

Next-Generation Sequencing (NGS) Genetic DNA Testing is a type of genetic testing that can analyze many genes at once. It uses advanced technology to sequence the DNA of an individual and identify any mutations or variations that may be present. NGS Genetic DNA Testing can be used to diagnose genetic disorders, including Leigh Syndrome due to mitochondrial complex I deficiency caused by mutations in the NDUFA12 gene.

Symptoms of Leigh Syndrome Due to NDUFA12 Gene Mutations

The symptoms of Leigh Syndrome due to NDUFA12 gene mutations are similar to those of other forms of Leigh Syndrome. They can include:

• Developmental delays
• Intellectual disability
• Muscle weakness
• Seizures
• Abnormal eye movements
• Respiratory problems
• Lactic acidosis

These symptoms can vary in severity and can appear at different ages, depending on the specific mutation in the NDUFA12 gene.

Diagnosing Leigh Syndrome Due to NDUFA12 Gene Mutations

Diagnosing Leigh Syndrome due to NDUFA12 gene mutations can be challenging, as the symptoms can be similar to those of other conditions. However, NGS Genetic DNA Testing can be used to identify mutations in the NDUFA12 gene and confirm a diagnosis of Leigh Syndrome. This test can be performed on a blood or tissue sample and can cost around INR 20,000.

Conclusion

Leigh Syndrome due to mitochondrial complex I deficiency caused by mutations in the NDUFA12 gene is a rare genetic disorder that can cause a range of symptoms, including developmental delays, intellectual disability, muscle weakness, seizures, abnormal eye movements, respiratory problems, and lactic acidosis. NGS Genetic DNA Testing can be used to diagnose the condition and identify mutations in the NDUFA12 gene. The cost of this test is around INR 20,000.

If you suspect that you or someone you know may have Leigh Syndrome due to NDUFA12 gene mutations, it is important to consult a healthcare professional for diagnosis and treatment.

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