Short Description

NGS genetic DNA test detecets for variant and mutation detection in SCN9A gene for Dravet syndrome, modifier of

PreTest Information

Clinical History of Patient who is going for SCN9A Gene Dravet syndrome, modifier of NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SCN9A Gene Dravet syndrome, modifier of

Detail Description

Understanding Dravet Syndrome and the Role of SCN9A Gene Modifier in NGS Genetic DNA Testing

Dravet Syndrome is a rare genetic disorder that affects one in every 20,000-40,000 people worldwide. It is characterized by seizures, developmental delays, and cognitive impairment. The condition is caused by mutations in the SCN1A gene, which produces a protein that helps regulate the flow of sodium ions in the brain.

Recent studies have shown that the SCN9A gene modifier plays a crucial role in the development and severity of Dravet Syndrome. The SCN9A gene, also known as the Nav1.7 sodium channel gene, produces a protein that is involved in transmitting pain signals to the brain. Research has found that mutations in this gene can affect the severity of seizures in people with Dravet Syndrome.

NGS Genetic DNA Testing and Dravet Syndrome

Next-generation sequencing (NGS) genetic DNA testing is a powerful tool that can help diagnose Dravet Syndrome and identify the specific genetic mutations responsible for the condition. The test involves sequencing the entire genome or a specific portion of the genome to identify genetic mutations that may be associated with the condition.

NGS genetic DNA testing is particularly useful in cases of Dravet Syndrome because the condition is caused by mutations in multiple genes, not just SCN1A. By identifying mutations in other genes, such as SCN9A, doctors can better understand the severity of the condition and develop more targeted treatment plans.

Symptoms of Dravet Syndrome

The symptoms of Dravet Syndrome typically begin in the first year of life and may include:

• Seizures
• Fever-related seizures
• Developmental delays
• Cognitive impairment
• Behavioral problems
• Delayed speech development
• Balance and coordination problems

The severity of the symptoms can vary widely between individuals, even within the same family.

Diagnosing Dravet Syndrome

Diagnosing Dravet Syndrome can be challenging because the symptoms are similar to other types of epilepsy. However, there are specific diagnostic criteria that doctors use to identify the condition. These criteria include:

• Onset of seizures before the age of 1 year
• Febrile seizures
• Multiple seizure types
• Seizures that are difficult to control with medication
• Developmental delays or cognitive impairment
• A family history of similar symptoms

If Dravet Syndrome is suspected, doctors may order genetic testing, including NGS genetic DNA testing, to identify specific mutations associated with the condition.

NGS Genetic DNA Testing Cost in India

The cost of NGS genetic DNA testing for Dravet Syndrome and other genetic conditions varies depending on the specific test being performed and the laboratory conducting the test. In India, the cost of NGS genetic DNA testing for Dravet Syndrome ranges from INR 20,000 to INR 50,000.

Conclusion

Dravet Syndrome is a rare genetic disorder that can cause seizures, developmental delays, and cognitive impairment. Recent research has identified the SCN9A gene modifier as playing a crucial role in the severity of the condition. NGS genetic DNA testing is a powerful tool that can help diagnose Dravet Syndrome and identify specific genetic mutations associated with the condition. The cost of NGS genetic DNA testing in India ranges from INR 20,000 to INR 50,000, depending on the specific test being performed.

At DNA Labs India, we offer NGS genetic DNA testing for Dravet Syndrome and other genetic conditions. Our state-of-the-art laboratory and experienced team of geneticists and molecular biologists ensure accurate and reliable test results. Contact us today to learn more about our NGS genetic DNA testing services.

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 SCN9A Gene Dravet syndrome, modifier of NGS Genetic DNA Test