Short Description

NGS genetic DNA test detecets for variant and mutation detection in PLP1 gene for SPG2

PreTest Information

Clinical History of Patient who is going for PLP1 Gene SPG2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PLP1 Gene SPG2

Detail Description

Discovering SPG2 through DNA Testing with DNA Labs India

Hereditary spastic paraplegia (HSP) is a group of rare genetic disorders that primarily affect the legs. The SPG2 subtype of HSP is caused by mutations in the PLP1 gene, which provides instructions for making a protein called proteolipid protein. This protein is a major component of the myelin sheath that surrounds nerve fibers in the brain and spinal cord. When the PLP1 gene is mutated, it can lead to the degeneration of these nerve fibers and cause the symptoms of SPG2.

Common Symptoms of SPG2

The symptoms of SPG2 can vary widely, even among members of the same family with the same genetic mutation. However, some common symptoms include:

• Stiffness and spasticity in the legs
• Difficulty walking and maintaining balance
• Weakness in the legs
• Numbness and tingling in the feet and legs
• Urinary urgency or incontinence

Diagnosing SPG2

SPG2 is typically diagnosed through a combination of clinical evaluations, family history assessments, and genetic testing. A neurologist or other specialist will perform a physical examination to evaluate the patient's motor function, reflexes, and other neurological symptoms. They may also order imaging tests, such as an MRI, to assess the brain and spinal cord for any abnormalities.

If SPG2 is suspected, genetic testing can confirm the diagnosis. The PLP1 gene can be analyzed using next-generation sequencing (NGS) technology to identify any mutations or variations that may be causing the symptoms. This type of genetic testing is available through DNA Labs India.

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA testing for SPG2 through DNA Labs India is INR 20,000. This includes the cost of the DNA sample collection kit, shipping, and analysis. Results are typically available within 2-3 weeks after the sample is received at the lab.

Conclusion

If you or a loved one is experiencing symptoms of SPG2, it is important to seek a diagnosis as soon as possible. Genetic testing through DNA Labs India can provide a definitive diagnosis and help guide treatment decisions. With a proper diagnosis, patients can receive the appropriate care and support to manage their symptoms and improve their quality of life.

For more information on NGS genetic DNA testing for SPG2, please 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 PLP1 Gene SPG2 NGS Genetic DNA Test