Short Description

NGS genetic DNA test detecets for variant and mutation detection in GABRG2 gene for Generalized epilepsy with febrile seizures plus type 3

PreTest Information

Clinical History of Patient who is going for GABRG2 Gene Generalized epilepsy with febrile seizures plus type 3 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with GABRG2 Gene Generalized epilepsy with febrile seizures plus type 3

Detail Description

GABRG2 Gene Generalized Epilepsy with Febrile Seizures Plus Type 3 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Generalized epilepsy with febrile seizures plus (GEFS+) is a rare genetic disorder that affects the nervous system. It is characterized by seizures that occur in response to fever, as well as other types of seizures. The disorder is caused by mutations in several genes, including the GABRG2 gene.

The GABRG2 gene provides instructions for making a protein that helps to regulate the activity of certain brain cells called neurons. Mutations in this gene can lead to abnormal neuron activity, which can cause seizures.

Symptoms of GEFS+

The symptoms of GEFS+ can vary widely from person to person. The most common symptom is seizures that occur in response to fever. These seizures may be brief and involve only a part of the body, or they may be more severe and involve the whole body. Other types of seizures, including absence seizures and tonic-clonic seizures, may also occur.

In some cases, people with GEFS+ may also experience other neurological symptoms, such as developmental delays, intellectual disability, and problems with coordination and balance.

Diagnosis of GEFS+

GEFS+ is typically diagnosed based on a person's medical history and a physical examination. Genetic testing may also be used to confirm the diagnosis and identify the specific genetic mutation that is causing the disorder. The GABRG2 gene is one of the genes that is commonly tested for mutations in people with GEFS+.

NGS Genetic DNA Test for GABRG2 Gene

The NGS (next-generation sequencing) genetic DNA test for the GABRG2 gene is a type of genetic testing that can identify mutations in this gene. The test involves sequencing the DNA of the GABRG2 gene to look for changes or variations that may be causing the disorder.

The cost of the NGS genetic DNA test for the GABRG2 gene is typically around INR 20000. However, the cost may vary depending on the laboratory that performs the test.

Conclusion

GEFS+ is a rare genetic disorder that can cause seizures in response to fever, as well as other types of seizures. The disorder is caused by mutations in several genes, including the GABRG2 gene. Genetic testing, such as the NGS genetic DNA test, can be used to diagnose the disorder and identify the specific genetic mutation that is causing it. If you or someone you know is experiencing symptoms of GEFS+, it is important to speak with a healthcare provider to determine the best course of action.

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 GABRG2 Gene Generalized epilepsy with febrile seizures plus type 3 NGS Genetic DNA Test