Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC2A1 gene for Epilepsy, idiopathic generalized type 12

PreTest Information

Clinical History of Patient who is going for SLC2A1 Gene Epilepsy, idiopathic generalized type 12 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SLC2A1 Gene Epilepsy, idiopathic generalized type 12

Detail Description

SLC2A1 Gene Epilepsy: A Comprehensive Guide

Epilepsy is a neurological disorder characterized by recurrent seizures. It affects millions of people worldwide and can cause significant physical and psychological harm. Idiopathic generalized epilepsy (IGE) is a subtype of epilepsy that typically presents in childhood or adolescence and affects both sexes equally. It is characterized by generalized seizures that originate from the brain's thalamus.

SLC2A1 Gene Epilepsy, also known as GLUT1 Deficiency Syndrome, is a rare form of IGE caused by mutations in the SLC2A1 gene. This gene provides instructions for making a protein called glucose transporter type 1 (GLUT1), which is responsible for transporting glucose into the brain. Mutations in this gene can lead to a deficiency of GLUT1, resulting in decreased glucose transport to the brain, which can cause seizures and other neurological symptoms.

Symptoms of SLC2A1 Gene Epilepsy

SLC2A1 Gene Epilepsy is characterized by a variety of symptoms that can vary in severity and presentation. Some of the most common symptoms include:

• Seizures that are often resistant to medication
• Developmental delay
• Motor abnormalities, including spasticity and ataxia
• Language and speech difficulties
• Behavioral problems, including hyperactivity and attention deficit
• Migraine headaches
• Low blood sugar (hypoglycemia)

Diagnosis of SLC2A1 Gene Epilepsy

Diagnosing SLC2A1 Gene Epilepsy can be challenging, as the symptoms can be similar to those of other neurological disorders. However, a diagnosis can be made through genetic testing, which can identify mutations in the SLC2A1 gene. An electroencephalogram (EEG) can also be used to detect abnormal brain activity, which is often present in individuals with SLC2A1 Gene Epilepsy.

NGS Genetic DNA Test for SLC2A1 Gene Epilepsy

NGS Genetic DNA testing is a powerful tool used to detect genetic mutations associated with a variety of disorders, including SLC2A1 Gene Epilepsy. This test uses next-generation sequencing technology to analyze an individual's DNA and identify mutations in the SLC2A1 gene.

The cost of NGS Genetic DNA testing for SLC2A1 Gene Epilepsy in India is approximately INR 20,000. This test can be ordered by a healthcare provider and involves taking a small blood sample from the patient, which is then sent to a laboratory for analysis.

Conclusion

SLC2A1 Gene Epilepsy is a rare form of IGE caused by mutations in the SLC2A1 gene. It can cause a variety of neurological symptoms, including seizures, developmental delay, and motor abnormalities. However, a diagnosis can be made through genetic testing, which can identify mutations in the SLC2A1 gene. NGS Genetic DNA testing is a powerful tool used to detect genetic mutations associated with SLC2A1 Gene Epilepsy, and the cost of this test in India is approximately INR 20,000.

If you or a loved one is experiencing symptoms of SLC2A1 Gene Epilepsy, it is important to seek medical attention promptly. A healthcare provider can perform the necessary tests to diagnose the condition and develop a treatment plan that is tailored to the individual's needs.

At DNA Labs India, we offer a range of genetic testing services, including NGS Genetic DNA testing for SLC2A1 Gene Epilepsy. Contact us today to learn more about our services and how we can help you.