Short Description

NGS genetic DNA test detecets for variant and mutation detection in CUX2 gene for Early infantile epileptic encephalopathy type 67

PreTest Information

Clinical History of Patient who is going for CUX2 Gene Early infantile epileptic encephalopathy type 67 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CUX2 Gene Early infantile epileptic encephalopathy type 67

Detail Description

CUX2 Gene Early Infantile Epileptic Encephalopathy Type 67 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Early infantile epileptic encephalopathy type 67 (EIEE67) is a rare genetic disorder that affects the brain's function, leading to seizures and developmental delays. It is caused by mutations in the CUX2 gene, which provides instructions for making a protein that regulates the development and function of nerve cells in the brain.

Symptoms of EIEE67

The symptoms of EIEE67 usually appear within the first few months of life and may include:

• Recurrent seizures
• Developmental delays
• Intellectual disability
• Abnormal muscle tone
• Difficulty with movement and coordination
• Feeding difficulties

Diagnosis of EIEE67

EIEE67 is diagnosed using genetic testing, which looks for mutations in the CUX2 gene. Next-generation sequencing (NGS) is a type of genetic testing that can analyze multiple genes at once, making it an efficient and cost-effective method of testing for rare genetic disorders like EIEE67.

CUX2 Gene Early Infantile Epileptic Encephalopathy Type 67 NGS Genetic DNA Test Cost

The cost of the CUX2 Gene Early Infantile Epileptic Encephalopathy Type 67 NGS Genetic DNA Test in India is INR 20,000. This test is available through DNA Labs India, a leading provider of genetic testing services in the country.

Why Get Tested?

If your child is exhibiting symptoms of EIEE67, it is important to get them tested as soon as possible. Early diagnosis can help doctors develop an appropriate treatment plan and improve outcomes for your child.

In addition, genetic testing can help identify other family members who may be at risk of developing EIEE67. This information can be used to inform family planning decisions and provide early intervention for affected individuals.

Conclusion

CUX2 Gene Early Infantile Epileptic Encephalopathy Type 67 is a rare genetic disorder that affects the brain's function, leading to seizures and developmental delays. Genetic testing, including NGS, is an efficient and cost-effective method of diagnosing the disorder. If your child is exhibiting symptoms of EIEE67, it is important to get them tested as soon as possible to improve outcomes and inform family planning decisions.

Contact DNA Labs India today to learn more about the CUX2 Gene Early Infantile Epileptic Encephalopathy Type 67 NGS Genetic DNA Test.

The CUX2 gene is associated with a neurological condition known as Early Infantile Epileptic Encephalopathy Type 67 (EIEE67). EIEE67 is a rare genetic disorder characterized by severe epilepsy that begins in infancy or early childhood. Individuals with this condition experience frequent seizures that may be resistant to treatment, as well as developmental and intellectual disabilities.