Short Description

NGS genetic DNA test detecets for variant and mutation detection in KCNJ10 gene for SESAME syndrome

PreTest Information

Clinical History of Patient who is going for KCNJ10 Gene SESAME syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with KCNJ10 Gene SESAME syndrome

Detail Description

KCNJ10 Gene and SESAME Syndrome

KCNJ10 gene is responsible for encoding a protein called Kir4.1, which forms a potassium channel in the cell membrane of certain cells in the body. This channel plays an important role in maintaining the electrical balance of cells and is particularly important in the brain, inner ear, and kidneys.

SESAME (Seizures, Sensorineural deafness, Ataxia, Mental retardation, and Electrolyte imbalance) syndrome is a rare genetic disorder that is caused by mutations in the KCNJ10 gene. This syndrome is characterized by a range of symptoms, including seizures, hearing loss, problems with movement and coordination, intellectual disability, and disturbances in the balance of electrolytes in the body.

Symptoms of SESAME Syndrome

The symptoms of SESAME syndrome can vary widely between individuals, but some of the most common symptoms include:

• Seizures
• Sensorineural deafness
• Ataxia (problems with movement and coordination)
• Mental retardation
• Electrolyte imbalance

Diagnosing SESAME Syndrome

SESAME syndrome is a rare disorder, and it can be difficult to diagnose. However, a variety of tests can be used to help diagnose the condition. These may include:

• Genetic testing to look for mutations in the KCNJ10 gene
• Electroencephalogram (EEG) to look for abnormal brain activity
• Hearing tests to evaluate hearing loss
• Electrolyte tests to look for imbalances in the body's electrolytes

NGS Genetic DNA Test for KCNJ10 Gene Mutations

Next-generation sequencing (NGS) is a powerful tool for genetic testing that can be used to look for mutations in the KCNJ10 gene. NGS is a high-throughput method that allows for the rapid analysis of large amounts of genetic data. This test can help to identify mutations in the KCNJ10 gene that are associated with SESAME syndrome.

Cost of NGS Genetic DNA Test for KCNJ10 Gene Mutations

The cost of NGS genetic testing for KCNJ10 gene mutations can vary depending on the laboratory that performs the test. At DNA Labs India, the cost of this test is INR 20,000.

Conclusion

SESAME syndrome is a rare genetic disorder that is caused by mutations in the KCNJ10 gene. This syndrome can cause a range of symptoms, including seizures, hearing loss, problems with movement and coordination, intellectual disability, and disturbances in the balance of electrolytes in the body. NGS genetic testing can be used to identify mutations in the KCNJ10 gene, and the cost of this test at DNA Labs India is INR 20,000.

If you suspect that you or a loved one may have SESAME syndrome, it is important to speak with a healthcare professional. They can help to evaluate your symptoms and determine the best course of action.

For more information on genetic testing for SESAME syndrome, contact DNA Labs India today.

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 KCNJ10 Gene SESAME syndrome NGS Genetic DNA Test