Short Description

NGS genetic DNA test detecets for variant and mutation detection in AP4E1 gene for SPG51

PreTest Information

Clinical History of Patient who is going for AP4E1 Gene SPG51 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with AP4E1 Gene SPG51

Detail Description

AP4E1 Gene SPG51 NGS Genetic DNA Test Cost INR:20000 - Symptoms and Diagnosis

DNA Labs India is a leading diagnostic center that offers a wide range of genetic tests to diagnose various diseases. One of the tests they offer is the AP4E1 Gene SPG51 NGS Genetic DNA Test, which is used to diagnose a rare genetic disorder called spastic paraplegia type 51 (SPG51). This blog will discuss the symptoms and diagnosis of SPG51 and the cost of the AP4E1 Gene SPG51 NGS Genetic DNA Test.

What is SPG51?

SPG51 is a rare genetic disorder that affects the nervous system. It is caused by mutations in the AP4E1 gene, which provides instructions for making a protein that is essential for the proper functioning of nerve cells. The symptoms of SPG51 usually appear in infancy or early childhood and include:

• Weakness and stiffness in the legs
• Difficulty walking
• Delayed development of motor skills
• Intellectual disability
• Seizures

The severity of symptoms can vary widely, even among individuals with the same genetic mutation.

Diagnosis of SPG51

SPG51 is diagnosed through a combination of physical examination, medical history, and genetic testing. The AP4E1 Gene SPG51 NGS Genetic DNA Test is a type of genetic testing that can identify mutations in the AP4E1 gene. This test uses next-generation sequencing (NGS) technology, which can analyze multiple genes at once and provide more accurate results than traditional genetic tests.

If a person is suspected to have SPG51, they may also undergo additional tests such as magnetic resonance imaging (MRI) or electromyography (EMG) to evaluate the extent of nerve damage and rule out other conditions that may cause similar symptoms.

Cost of AP4E1 Gene SPG51 NGS Genetic DNA Test

The cost of the AP4E1 Gene SPG51 NGS Genetic DNA Test at DNA Labs India is INR 20,000. This test is not covered by insurance, and the cost may vary depending on the location and laboratory that performs the test.

Conclusion

The AP4E1 Gene SPG51 NGS Genetic DNA Test is a valuable tool for diagnosing SPG51, a rare genetic disorder that affects the nervous system. This test can provide accurate results and help healthcare professionals develop an appropriate treatment plan for affected individuals. If you or someone you know is experiencing symptoms of SPG51, it is important to seek medical attention and consider genetic testing.

At DNA Labs India, we are committed to providing high-quality genetic testing services at affordable prices. Contact us today to learn more about our services and how we can help you.