Short Description

NGS genetic DNA test detecets for variant and mutation detection in BSCL2 gene for Encephalopathy, progressive, with or without lipodystrophy

PreTest Information

Clinical History of Patient who is going for BSCL2 Gene Encephalopathy, progressive, with or without lipodystrophy NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with BSCL2 Gene Encephalopathy, progressive, with or without lipodystrophy

Detail Description

BSCL2 Gene Encephalopathy: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

BSCL2 Gene Encephalopathy is a rare genetic disorder that affects the nervous system and causes progressive damage to the brain. It is also known as Encephalopathy, progressive, with or without lipodystrophy. This disorder is caused by mutations in the BSCL2 gene, which is responsible for encoding proteins that play a critical role in the metabolism of fats in the body.

BSCL2 Gene Encephalopathy is a progressive disorder, which means that symptoms worsen over time. It is characterized by a range of neurological symptoms, including seizures, loss of motor skills, speech difficulties, and cognitive impairment. In addition, some individuals with BSCL2 Gene Encephalopathy also develop a condition called lipodystrophy, which is characterized by the loss of body fat in certain areas of the body, such as the face, arms, and legs.

Diagnosis of BSCL2 Gene Encephalopathy typically involves a combination of physical examination, neurological testing, and genetic testing. Genetic testing is particularly important for the diagnosis of this disorder, as it can identify mutations in the BSCL2 gene that are responsible for the disorder.

NGS Genetic DNA testing is a highly advanced form of genetic testing that uses next-generation sequencing technology to analyze an individual's DNA. This technology can identify even the smallest mutations in the DNA, making it an effective tool for diagnosing rare genetic disorders like BSCL2 Gene Encephalopathy.

The cost of NGS Genetic DNA testing for BSCL2 Gene Encephalopathy in India is typically around INR 20,000. This cost may vary depending on the specific testing facility and the extent of testing required.

If you or someone you know is experiencing symptoms of BSCL2 Gene Encephalopathy, it is important to seek medical attention immediately. Early diagnosis and treatment can help to slow the progression of the disorder and improve quality of life.

In conclusion, BSCL2 Gene Encephalopathy is a rare genetic disorder that can cause significant neurological symptoms and lipodystrophy. Diagnosis typically involves a combination of physical examination, neurological testing, and genetic testing, including NGS Genetic DNA testing. The cost of NGS Genetic DNA testing for BSCL2 Gene Encephalopathy in India is typically around INR 20,000.