Short Description

NGS genetic DNA test detecets for variant and mutation detection in PC gene for Leigh syndrome due to pyruvate carboxylase deficiency

PreTest Information

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

Detail Description

PC Gene Leigh Syndrome due to Pyruvate Carboxylase Deficiency NGS Genetic DNA Test

Leigh Syndrome is a rare and severe neurological disorder that usually affects infants. It is characterized by progressive loss of mental and movement abilities, along with poor muscle tone and seizures. Leigh Syndrome is caused by mutations in several genes, and one of them is the PC gene, which codes for Pyruvate Carboxylase. Pyruvate Carboxylase is an enzyme that plays a crucial role in energy metabolism, and its deficiency leads to the accumulation of toxic substances in the brain and other organs.

The diagnosis of Leigh Syndrome due to PC gene mutation is challenging because the symptoms can be non-specific and overlap with other disorders. However, advances in Next-Generation Sequencing (NGS) technology have made it possible to identify the underlying genetic cause of Leigh Syndrome accurately.

Symptoms of Leigh Syndrome due to PC Gene Mutation

The symptoms of Leigh Syndrome due to PC gene mutation can vary in severity and onset, but they usually appear in infancy or early childhood. These symptoms include:

• Delayed motor development
• Weak muscle tone (hypotonia)
• Seizures
• Difficulty breathing
• Enlarged liver and/or spleen
• Developmental regression
• Unusual eye movements

The symptoms of Leigh Syndrome due to PC gene mutation can worsen rapidly, and affected individuals may not survive beyond their teenage years.

Diagnosis of Leigh Syndrome due to PC Gene Mutation

The diagnosis of Leigh Syndrome due to PC gene mutation can be confirmed through genetic testing. NGS technology allows for the sequencing of multiple genes simultaneously, making it a cost-effective and time-efficient method for identifying the underlying genetic cause of Leigh Syndrome. The test requires a blood or saliva sample from the affected individual and their parents, if available.

The PC Gene Leigh Syndrome due to Pyruvate Carboxylase Deficiency NGS Genetic DNA Test is available in India and costs around INR 20,000. The test can provide a definitive diagnosis, which can help in the management and treatment of the disease.

Conclusion

Leigh Syndrome due to PC gene mutation is a severe neurological disorder that can be diagnosed through genetic testing. The PC Gene Leigh Syndrome due to Pyruvate Carboxylase Deficiency NGS Genetic DNA Test is a cost-effective and time-efficient method for identifying the underlying genetic cause of Leigh Syndrome. Early diagnosis can help in the management and treatment of the disease, and genetic counseling can provide valuable information to affected families.

If you suspect that your child may have Leigh Syndrome due to PC gene mutation, consult a genetic counselor or a medical professional who can guide you through the testing process.

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 PC Gene Leigh syndrome due to pyruvate carboxylase deficiency NGS Genetic DNA Test