Short Description

NGS genetic DNA test detecets for variant and mutation detection in AGK gene for Sengers syndrome

PreTest Information

Clinical History of Patient who is going for AGK Gene Sengers syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with AGK Gene Sengers syndrome NGS Genetic DNA Test gene AGK

Detail Description

Understanding AGK Gene and Sengers Syndrome: NGS Genetic DNA Test Cost in India

AGK gene is responsible for producing an enzyme called acylglycerol kinase. This enzyme plays a crucial role in the metabolism of lipids in the body. When there is a mutation in the AGK gene, it can lead to a rare genetic disorder called Sengers syndrome.

Sengers syndrome is a condition that affects multiple organs in the body, including the heart, muscles, and eyes. It is an autosomal recessive disorder, which means that both parents must carry the mutated gene for their child to inherit the condition.

Some of the symptoms of Sengers syndrome include:

• Cardiomyopathy
• Weakness and wasting of muscles
• Cataracts
• Hearing loss
• Lactic acidosis

Diagnosis of Sengers syndrome can be challenging as the symptoms are not specific to the condition. However, genetic testing can help confirm the diagnosis. Next-generation sequencing (NGS) is a type of genetic testing that can analyze multiple genes simultaneously and provide a comprehensive genetic analysis.

The cost of NGS genetic DNA testing in India can range from INR 15,000 to INR 30,000, depending on the complexity of the test and the laboratory that performs the analysis.

How Does NGS Genetic Testing Work?

NGS genetic testing involves analyzing DNA samples to identify mutations in specific genes. The process involves:

• Extracting DNA from the patient's blood or tissue sample
• Breaking down the DNA into smaller fragments
• Attaching short DNA sequences called adapters to the fragments
• Amplifying the DNA fragments using polymerase chain reaction (PCR)
• Sequencing the amplified DNA using a high-throughput sequencer
• Comparing the DNA sequence to a reference genome to identify mutations

NGS genetic testing is a highly accurate and sensitive method of identifying mutations in genes associated with genetic disorders.

Conclusion

AGK gene mutations can lead to Sengers syndrome, a rare genetic disorder that affects multiple organs in the body. NGS genetic testing is a powerful tool for diagnosing Sengers syndrome and other genetic disorders. The cost of NGS genetic testing in India can vary depending on the laboratory and the complexity of the test.

If you suspect that you or a family member may have Sengers syndrome, consult with a genetic counselor to discuss the options for genetic testing and diagnosis.

For more information about NGS genetic testing and DNA analysis, contact DNA Labs India.