Short Description

NGS genetic DNA test detecets for variant and mutation detection in AP4B1 gene for SPG47

PreTest Information

Clinical History of Patient who is going for AP4B1 Gene SPG47 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with AP4B1 Gene SPG47

Detail Description

AP4B1 Gene SPG47 NGS Genetic DNA Test Cost in India: INR 20,000 - Symptoms and Diagnosis

DNA Labs India offers AP4B1 Gene SPG47 NGS Genetic DNA Test in India at a cost of INR 20,000. This test is designed to detect mutations in the AP4B1 gene, which is associated with a rare form of spastic paraplegia called SPG47. This genetic disorder affects the nervous system and leads to muscle stiffness and weakness in the legs, making it difficult to walk and perform daily activities.

Symptoms of SPG47

The symptoms of SPG47 usually begin in early childhood, typically between the ages of 2 and 4 years. The initial symptoms may include delayed motor milestones, difficulty walking, and muscle weakness in the legs. As the disease progresses, the muscles in the arms, face, and trunk may also become affected. Other common symptoms include:

• Spasticity (muscle stiffness)
• Hypotonia (low muscle tone)
• Difficulty with coordination and balance
• Speech difficulties
• Intellectual disability
• Seizures

Diagnosis of SPG47

Diagnosis of SPG47 is typically confirmed through genetic testing. DNA Labs India offers AP4B1 Gene SPG47 NGS Genetic DNA Test, which uses next-generation sequencing technology to analyze the AP4B1 gene for mutations. If a mutation is detected, it confirms a diagnosis of SPG47.

In addition to genetic testing, doctors may also perform neurological exams, brain imaging tests, and other diagnostic tests to rule out other conditions with similar symptoms.

Cost of AP4B1 Gene SPG47 NGS Genetic DNA Test in India

The cost of AP4B1 Gene SPG47 NGS Genetic DNA Test in India is INR 20,000. This test is available through DNA Labs India and can be ordered online through their website. The test requires a blood sample, which can be collected at one of their collection centers or through a home collection service.

Conclusion

SPG47 is a rare genetic disorder that affects the nervous system and causes muscle stiffness and weakness in the legs. Diagnosis is typically confirmed through genetic testing, and DNA Labs India offers AP4B1 Gene SPG47 NGS Genetic DNA Test in India at a cost of INR 20,000. If you or a loved one is experiencing symptoms of SPG47, it is important to speak with a doctor and consider genetic testing to confirm a diagnosis and receive appropriate treatment and support.