Short Description

NGS genetic DNA test detecets for variant and mutation detection in L1CAM gene for SPG1

PreTest Information

Clinical History of Patient who is going for L1CAM Gene SPG1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with L1CAM Gene SPG1

Detail Description

L1CAM Gene SPG1 NGS Genetic DNA Test Cost INR 20000: Symptoms and Diagnosis

DNA Labs India offers a wide range of genetic testing options, including the L1CAM Gene SPG1 NGS Genetic DNA Test. This test helps diagnose a rare genetic disorder called SPG1, which affects the nerves that control muscle movement. The test is priced at INR 20000 and is available across India.

What is SPG1?

SPG1, also known as hereditary spastic paraplegia type 1, is a rare genetic disorder that affects the nervous system. The disorder causes weakness and stiffness in the legs, which can lead to difficulty walking. The symptoms typically begin in childhood or adolescence and worsen over time. SPG1 is caused by mutations in the L1CAM gene, which is responsible for the production of a protein that helps nerve cells communicate with each other.

What are the Symptoms of SPG1?

The symptoms of SPG1 can vary widely from person to person. However, some common symptoms include:

• Weakness and stiffness in the legs
• Difficulty walking
• Spasticity in the leg muscles
• Hyperreflexia (exaggerated reflexes)
• Urinary urgency and frequency

Diagnosis of SPG1

Diagnosis of SPG1 typically involves a combination of clinical evaluation and genetic testing. A physical examination can help identify the characteristic symptoms of the disorder, such as weakness and spasticity in the legs. Genetic testing, such as the L1CAM Gene SPG1 NGS Genetic DNA Test, can help confirm the diagnosis by identifying mutations in the L1CAM gene.

L1CAM Gene SPG1 NGS Genetic DNA Test

The L1CAM Gene SPG1 NGS Genetic DNA Test is a next-generation sequencing (NGS) test that analyzes the L1CAM gene for mutations associated with SPG1. The test is performed using a small blood sample and can be completed within a few weeks. The test is priced at INR 20000 and is available across India.

Conclusion

If you or someone you know is experiencing symptoms of SPG1, it is important to seek medical attention. The L1CAM Gene SPG1 NGS Genetic DNA Test offered by DNA Labs India can help diagnose this rare genetic disorder and provide valuable information for treatment and management. The test is affordable and accessible, making it an important tool for individuals and families affected by SPG1.

For more information on the L1CAM Gene SPG1 NGS Genetic DNA Test or other genetic testing options, contact DNA Labs India today.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for L1CAM Gene SPG1 NGS Genetic DNA Test