Short Description

NGS genetic DNA test detecets for variant and mutation detection in VDAC1 gene for Encephalopathy mitochondrial

PreTest Information

Clinical History of Patient who is going for VDAC1 Gene Encephalopathy mitochondrial NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with VDAC1 Gene Encephalopathy mitochondrial

Detail Description

VDAC1 Gene Encephalopathy Mitochondrial NGS Genetic DNA Test

Encephalopathy is a condition characterized by a brain dysfunction that can cause a wide range of symptoms, including seizures, confusion, and difficulty speaking. Mitochondrial encephalopathy is a type of encephalopathy that is caused by a dysfunction in the mitochondria, the powerhouse of the cell.

The VDAC1 gene is one of the genes that has been linked to mitochondrial encephalopathy. VDAC1 is a protein that is found in the outer membrane of mitochondria and plays a crucial role in regulating the transport of ions and metabolites in and out of the mitochondria.

Symptoms of VDAC1 Gene Encephalopathy

The symptoms of VDAC1 gene encephalopathy can vary widely depending on the severity of the condition and the age of onset. Some common symptoms include:

• Seizures
• Developmental delay
• Muscle weakness
• Difficulty walking
• Loss of vision or hearing
• Problems with speech or language

Diagnosis of VDAC1 Gene Encephalopathy

VDAC1 gene encephalopathy can be diagnosed through genetic testing, specifically Next-Generation Sequencing (NGS). NGS is a technology that allows for the simultaneous sequencing of millions of DNA fragments, making it possible to detect mutations in multiple genes at once.

The cost of NGS genetic DNA testing for VDAC1 gene encephalopathy in India is approximately INR 20,000.

Conclusion

VDAC1 gene encephalopathy is a rare genetic condition that can cause a wide range of symptoms, including seizures, developmental delay, muscle weakness, and difficulty walking. Diagnosis is possible through NGS genetic DNA testing, which costs approximately INR 20,000 in India.

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 VDAC1 Gene Encephalopathy mitochondrial NGS Genetic DNA Test