Short Description

NGS genetic DNA test detecets for variant and mutation detection in EHMT1 gene for Kleefstra syndrome

PreTest Information

Clinical History of Patient who is going for EHMT1 Gene Kleefstra syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with EHMT1 Gene Kleefstra syndrome NGS Genetic DNA Test gene EHMT1

Detail Description

EHMT1 Gene Kleefstra Syndrome NGS Genetic DNA Test Cost: INR 20,000 - Symptoms and Diagnosis

Kleefstra Syndrome is a rare genetic disorder caused by a mutation in the EHMT1 gene. This mutation affects the development of the brain and can lead to intellectual disability, developmental delays, and other symptoms. The disorder is named after the Dutch geneticist Tjitske Kleefstra, who first identified it in 2004.

The EHMT1 gene is responsible for producing a protein that plays a crucial role in the development and function of the brain. Mutations in this gene can lead to a wide range of symptoms, including intellectual disability, speech and language delays, behavioral problems, and physical abnormalities such as a small head size and distinctive facial features.

Symptoms of Kleefstra Syndrome

The symptoms of Kleefstra Syndrome can vary widely from person to person, and may include:

• Intellectual disability
• Delayed speech and language development
• Behavioral problems, such as hyperactivity, anxiety, and aggression
• Physical abnormalities, such as a small head size and distinctive facial features
• Feeding difficulties and gastrointestinal problems
• Recurrent infections
• Seizures

Diagnosis

Diagnosing Kleefstra Syndrome can be challenging, as the symptoms can be similar to those of other genetic disorders. A genetic test is required to confirm the diagnosis of Kleefstra Syndrome. The most common genetic test used to diagnose Kleefstra Syndrome is Next Generation Sequencing (NGS).

NGS is a powerful tool that allows for the rapid and accurate sequencing of DNA. It can identify mutations in the EHMT1 gene, making it the most effective way to diagnose Kleefstra Syndrome. The cost of NGS genetic DNA testing for Kleefstra Syndrome in India is INR 20,000.

Treatment

There is no cure for Kleefstra Syndrome, but treatment can help manage the symptoms. Treatment may include speech therapy, physical therapy, and behavioral therapy. Medications may be prescribed to manage seizures, anxiety, and other symptoms.

Conclusion

Kleefstra Syndrome is a rare genetic disorder caused by a mutation in the EHMT1 gene. The disorder can lead to a wide range of symptoms, including intellectual disability, speech and language delays, behavioral problems, and physical abnormalities. A genetic test using Next Generation Sequencing (NGS) is required to diagnose Kleefstra Syndrome, and the cost of the test in India is INR 20,000. While there is no cure for Kleefstra Syndrome, treatment can help manage the symptoms and improve quality of life.

It is important to spread awareness about rare genetic disorders like Kleefstra Syndrome and to encourage genetic testing to help in the early diagnosis and management of such disorders.

At DNA Labs India, we offer a comprehensive range of genetic testing services, including NGS genetic DNA testing for Kleefstra Syndrome. Contact us today to learn more about our genetic testing services.