Short Description

NGS genetic DNA test detecets for variant and mutation detection in CYP7B1 gene for SPG5A

PreTest Information

Clinical History of Patient who is going for CYP7B1 Gene SPG5A NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CYP7B1 Gene SPG5A

Detail Description

CYP7B1 Gene SPG5A NGS Genetic DNA Test

CYP7B1 Gene SPG5A NGS Genetic DNA Test is a diagnostic test that examines the DNA of an individual to detect any mutations or variations in the CYP7B1 gene that may lead to SPG5A (Spastic Paraplegia Type 5A) - a rare genetic disorder that affects the nervous system.

Symptoms of SPG5A

SPG5A is a progressive disorder that affects the muscles of the lower limbs. Some of the common symptoms of SPG5A include:

• Stiffness in legs
• Difficulty in walking
• Weakness in legs
• Loss of balance
• Abnormal gait
• Numbness or tingling in legs

Diagnosis of SPG5A

SPG5A is diagnosed through a combination of physical examination, medical history, and genetic testing. The doctor may perform a neurological examination to check for muscle weakness, spasticity, and other symptoms associated with SPG5A. Genetic testing is done to confirm the presence of CYP7B1 gene mutations or variations.

CYP7B1 Gene SPG5A NGS Genetic DNA Test Cost

The cost of the CYP7B1 Gene SPG5A NGS Genetic DNA Test at DNA Labs India is INR 20,000. The test is performed using Next-Generation Sequencing (NGS) technology, which enables the detection of mutations or variations in the CYP7B1 gene with high accuracy and sensitivity.

Conclusion

If you or someone you know is experiencing symptoms of SPG5A, it is important to consult a doctor as soon as possible. The CYP7B1 Gene SPG5A NGS Genetic DNA Test offered by DNA Labs India can help in the early diagnosis of SPG5A, enabling timely treatment and management of the disorder.

SPG5A refers to a specific subtype of hereditary spastic paraplegia (HSP), a group of rare genetic disorders characterized by progressive weakness and spasticity (stiffness) in the lower limbs. SPG5A is caused by mutations in the CYP7B1 gene.