Short Description

NGS genetic DNA test detecets for variant and mutation detection in KIF1A gene for SPG30

PreTest Information

Clinical History of Patient who is going for KIF1A Gene SPG30 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with KIF1A Gene SPG30

Detail Description

KIF1A Gene SPG30 NGS Genetic DNA Test - Cost, Symptoms, and Diagnosis

SPG30 is a rare genetic disorder caused by mutations in the KIF1A gene. This gene provides instructions for making a protein that is important for the normal functioning of nerve cells. Mutations in this gene can lead to a range of symptoms, including muscle weakness, spasticity, and difficulty with movement.

Symptoms of SPG30

The symptoms of SPG30 can vary widely from person to person, but they generally involve problems with movement and muscle control. Some common symptoms include:

• Muscle weakness and stiffness
• Difficulty walking or running
• Spasticity (stiffness and tightness of the muscles)
• Tremors or shaking
• Difficulty with fine motor skills (such as writing or typing)
• Balance problems

These symptoms can range from mild to severe, and they may get worse over time. Some people with SPG30 may also experience vision problems, seizures, or intellectual disability.

Diagnosis of SPG30

SPG30 is typically diagnosed through a combination of clinical evaluation and genetic testing. A doctor may perform a physical examination to look for signs of muscle weakness, spasticity, or other neurological symptoms. They may also order imaging tests, such as an MRI, to look for abnormalities in the brain or spinal cord.

The most definitive way to diagnose SPG30 is through genetic testing. This involves analyzing a sample of the patient's DNA to look for mutations in the KIF1A gene. This can be done through a variety of methods, including next-generation sequencing (NGS).

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for SPG30 can vary depending on the provider and the specific test being performed. At DNA Labs India, we offer an NGS panel for hereditary spastic paraplegia (HSP), which includes testing for mutations in the KIF1A gene. The cost of this test is INR 20,000.

We understand that genetic testing can be expensive, which is why we offer affordable pricing and payment plans to make testing accessible to more people.

Conclusion

If you or a loved one are experiencing symptoms of SPG30, it is important to speak with a doctor about getting a diagnosis. Genetic testing can help confirm a diagnosis of SPG30 and provide valuable information for treatment and management of the condition.

At DNA Labs India, we are committed to providing high-quality genetic testing services at an affordable cost. Contact us today to learn more about our testing options and pricing.

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 KIF1A Gene SPG30 NGS Genetic DNA Test