Short Description

NGS genetic DNA test detecets for variant and mutation detection in BSCL2 gene for SPG17

PreTest Information

Clinical History of Patient who is going for BSCL2 Gene SPG17 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with BSCL2 Gene SPG17

Detail Description

BSCL2 Gene SPG17 NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

BSCL2 Gene SPG17 NGS Genetic DNA Test is a diagnostic test used to detect mutations in the BSCL2 gene associated with a rare genetic disorder called spastic paraplegia type 17 (SPG17). This disorder affects the central nervous system and causes progressive muscle stiffness and weakness in the legs.

Symptoms of SPG17

The symptoms of SPG17 usually appear in early childhood or adolescence and gradually worsen over time. The main symptoms include:

• Difficulty walking or standing
• Stiffness or spasticity in the legs
• Weakness in the legs
• Numbness or tingling in the legs
• Unsteady gait
• Difficulty with balance and coordination
• Bladder and bowel dysfunction
• Muscle wasting

SPG17 can also affect other parts of the body, such as the arms, hands, and upper body. Some people with SPG17 may also experience cognitive impairment or psychiatric symptoms.

Diagnosis of SPG17

SPG17 is diagnosed through a combination of clinical evaluation, genetic testing, and imaging studies. A neurologist will perform a physical exam to assess muscle strength, reflexes, and coordination. Imaging studies, such as magnetic resonance imaging (MRI), may be used to evaluate the brain and spinal cord.

Genetic testing is the most reliable way to diagnose SPG17. The BSCL2 Gene SPG17 NGS Genetic DNA Test is a type of genetic test that uses next-generation sequencing (NGS) technology to detect mutations in the BSCL2 gene. This test is highly accurate and can detect mutations that may be missed by other genetic tests.

Cost of BSCL2 Gene SPG17 NGS Genetic DNA Test

The cost of the BSCL2 Gene SPG17 NGS Genetic DNA Test in India is around INR 20,000. This cost may vary depending on the laboratory and location.

Conclusion

The BSCL2 Gene SPG17 NGS Genetic DNA Test is a valuable diagnostic tool for identifying mutations in the BSCL2 gene associated with SPG17. Early diagnosis and treatment can help to manage symptoms and improve quality of life for people with this rare genetic disorder.

If you or a loved one are experiencing symptoms of SPG17, it is important to consult with a neurologist and discuss the possibility of genetic testing.