Short Description

NGS genetic DNA test detecets for variant and mutation detection in PIGA gene for Early infantile epileptic encephalopathy type 20

PreTest Information

Clinical History of Patient who is going for PIGA Gene Early infantile epileptic encephalopathy type 20 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PIGA Gene Early infantile epileptic encephalopathy type 20

Detail Description

PIGA Gene Early Infantile Epileptic Encephalopathy Type 20 NGS Genetic DNA Test Cost INR 20000: Symptoms, Diagnosis

Early infantile epileptic encephalopathy type 20 is a rare genetic condition that affects the brain and causes seizures. This condition is caused by mutations in the PIGA gene, which is responsible for producing a protein that helps to anchor other proteins to the surface of cells. The PIGA gene is located on the X chromosome and is inherited in an X-linked recessive pattern, which means that it primarily affects males.

Symptoms of early infantile epileptic encephalopathy type 20 can vary widely, but typically include seizures that begin in the first few months of life. These seizures may be difficult to control with medication and can lead to developmental delays and intellectual disability. Other symptoms may include low muscle tone, difficulty with movement, and feeding difficulties.

Diagnosis of early infantile epileptic encephalopathy type 20 typically involves a genetic test that looks for mutations in the PIGA gene. This test is known as a next-generation sequencing (NGS) genetic DNA test and involves analyzing the DNA sequence of the PIGA gene to look for mutations. The cost of this test in India is typically around INR 20000.

If a mutation is found in the PIGA gene, genetic counseling may be recommended for the affected individual and their family members. This can help to explain the inheritance pattern of the condition and provide information about the risks of passing it on to future generations. Treatment for early infantile epileptic encephalopathy type 20 typically involves managing seizures with medication and providing supportive care for other symptoms.

In conclusion, early infantile epileptic encephalopathy type 20 is a rare genetic condition that is caused by mutations in the PIGA gene. Symptoms can include seizures, developmental delays, and intellectual disability. Diagnosis involves a genetic test that looks for mutations in the PIGA gene, and the cost of this test in India is typically around INR 20000. Treatment typically involves managing seizures with medication and providing supportive care for other symptoms.

If you suspect that you or a loved one may have early infantile epileptic encephalopathy type 20, it is important to speak with a healthcare provider who can provide an accurate diagnosis and recommend appropriate treatment options.

For more information on genetic testing and counseling services, contact DNA Labs India.