Short Description

NGS genetic DNA test detecets for variant and mutation detection in PRRT2 gene for Seizures, benign familial infantile, type 2

PreTest Information

Clinical History of Patient who is going for PRRT2 Gene Seizures, benign familial infantile, type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PRRT2 Gene Seizures, benign familial infantile, type 2

Detail Description

PRRT2 Gene Seizures: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

PRRT2 gene seizures, also known as benign familial infantile seizures type 2, is a rare genetic disorder that affects the nervous system. It is caused by mutations in the PRRT2 gene, which provides instructions for making a protein involved in the regulation of nerve cell activity.

The symptoms of PRRT2 gene seizures typically begin in infancy or early childhood and include brief episodes of involuntary muscle jerking, usually in the arms and legs. These episodes may last for a few seconds to several minutes and can occur multiple times a day. In some cases, other symptoms such as mild developmental delays, ataxia, or dystonia may also be present.

Diagnosing PRRT2 gene seizures typically involves a combination of clinical evaluation and genetic testing. The clinical evaluation may include a physical exam, medical history, and neurological testing to assess the extent and severity of symptoms. Genetic testing, such as NGS (next-generation sequencing) DNA testing, can be used to identify mutations in the PRRT2 gene and confirm a diagnosis.

NGS genetic DNA testing is a highly advanced technique that can analyze multiple genes simultaneously, making it a powerful tool for identifying genetic disorders such as PRRT2 gene seizures. The cost of NGS genetic DNA testing in India can vary depending on the laboratory and specific test being performed, but typically ranges from INR 15,000 to INR 25,000.

If you suspect that you or a loved one may have PRRT2 gene seizures, it is important to seek medical evaluation and genetic testing as soon as possible. Early diagnosis and treatment can help manage symptoms and improve outcomes for those affected by this rare genetic disorder.

Conclusion

PRRT2 gene seizures is a rare genetic disorder that affects the nervous system, causing involuntary muscle jerking and other symptoms. Diagnosing this disorder typically involves a combination of clinical evaluation and genetic testing, such as NGS DNA testing. The cost of NGS genetic DNA testing in India can vary, but typically ranges from INR 15,000 to INR 25,000. If you suspect that you or a loved one may have PRRT2 gene seizures, seek medical evaluation and genetic testing as soon as possible.

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 PRRT2 Gene Seizures, benign familial infantile, type 2 NGS Genetic DNA Test