Short Description

NGS genetic DNA test detecets for variant and mutation detection in C19orf12 gene for SPG43

PreTest Information

Clinical History of Patient who is going for C19orf12 Gene SPG43 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with C19orf12 Gene SPG43

Detail Description

C19orf12 Gene SPG43 NGS Genetic DNA Test

SPG43 is a rare hereditary neurodegenerative disorder that affects the motor neurons of the body. It is caused by a mutation in the C19orf12 gene, which encodes a protein involved in the functioning of the mitochondria. This disorder is characterized by the progressive degeneration of the motor neurons, leading to muscle weakness, spasticity, and difficulty in walking. The symptoms of SPG43 usually begin in childhood or adolescence and worsen over time.

Diagnosis

The diagnosis of SPG43 is usually made based on the patient's clinical symptoms and a genetic test to confirm the presence of the C19orf12 gene mutation. The genetic test is performed using Next-Generation Sequencing (NGS) technology, which is a highly accurate and efficient method of sequencing DNA. The NGS test can detect the specific mutation in the C19orf12 gene that is responsible for SPG43.

Symptoms

The symptoms of SPG43 include:

• Muscle weakness
• Spasticity
• Difficulty in walking
• Abnormal gait
• Tremors
• Loss of balance
• Impaired speech
• Intellectual disability

These symptoms usually begin in childhood or adolescence and worsen over time. The severity of the symptoms can vary from person to person, even within the same family.

Cost of NGS Genetic DNA Test

The cost of the NGS genetic DNA test for SPG43 is INR 20,000 in India. This cost includes the genetic counseling and interpretation of the test results by a team of experts. The genetic counseling is an important part of the testing process as it helps the patient and their family understand the implications of the test results and make informed decisions about their healthcare.

Conclusion

SPG43 is a rare hereditary neurodegenerative disorder that is caused by a mutation in the C19orf12 gene. The symptoms of SPG43 usually begin in childhood or adolescence and worsen over time. The diagnosis of SPG43 is usually made based on the patient's clinical symptoms and a genetic test to confirm the presence of the C19orf12 gene mutation. The NGS genetic DNA test for SPG43 is available in India at a cost of INR 20,000, which includes genetic counseling and interpretation of the test results by a team of experts.

If you or a loved one are experiencing symptoms of SPG43, it is important to consult a genetic counselor or healthcare professional to determine if genetic testing is necessary.

For more information on SPG43 and genetic testing, please contact DNA Labs India.