Short Description

NGS genetic DNA test detecets for variant and mutation detection in BSCL2 gene for Neuropathy, distal hereditary motor, type 5A

PreTest Information

Clinical History of Patient who is going for BSCL2 Gene Neuropathy, distal hereditary motor, type 5A NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with BSCL2 Gene Neuropathy, distal hereditary motor, type 5A

Detail Description

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

BSCL2 gene neuropathy, also known as distal hereditary motor neuropathy type 5A (dHMN5A), is a rare inherited disorder that affects the motor neurons in the peripheral nervous system.

The condition is caused by mutations in the BSCL2 gene, which provides instructions for making a protein called seipin that is involved in the formation of fat cells. These mutations disrupt the normal function of seipin, leading to the degeneration of motor neurons and the muscles they control.

Symptoms of BSCL2 Gene Neuropathy

The symptoms of BSCL2 gene neuropathy usually begin in adolescence or early adulthood and progress slowly over time. They typically include:

• Weakness and wasting of the muscles in the hands and feet
• Difficulty walking and maintaining balance
• Loss of muscle tone and reflexes
• Difficulty with fine motor skills, such as writing or buttoning clothes
• Numbness, tingling or pain in the affected limbs

Diagnosis of BSCL2 Gene Neuropathy

BSCL2 gene neuropathy is diagnosed through a combination of clinical examination, electromyography (EMG) and genetic testing. EMG is used to assess the electrical activity of the muscles and determine the extent of nerve damage. Genetic testing can confirm the presence of BSCL2 gene mutations.

NGS Genetic DNA Test Cost for BSCL2 Gene Neuropathy at DNA Labs India

The cost of NGS Genetic DNA Test for BSCL2 Gene Neuropathy at DNA Labs India is INR 20,000. This test uses next-generation sequencing technology to analyze the entire coding region of the BSCL2 gene and identify mutations that may be causing the condition.

At DNA Labs India, we provide accurate and reliable genetic testing services for a wide range of inherited disorders, including BSCL2 gene neuropathy. Our state-of-the-art laboratory is equipped with the latest technology and staffed by experienced professionals who are committed to providing the highest level of service and support to our clients.

If you or a loved one is experiencing symptoms of BSCL2 gene neuropathy, contact DNA Labs India today to learn more about our genetic testing services and how we can help.