Short Description

NGS genetic DNA test detecets for variant and mutation detection in IBA57 gene for Spastic paraplegia type 74, autosomal recessive

PreTest Information

Clinical History of Patient who is going for IBA57 Gene Spastic paraplegia type 74, autosomal recessive NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with IBA57 Gene Spastic paraplegia type 74, autosomal recessive

Detail Description

IBA57 Gene Spastic Paraplegia Type 74: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Spastic paraplegia type 74 (SPG74) is a rare genetic disorder that affects the nervous system, causing progressive muscle weakness and stiffness in the lower limbs. It is caused by mutations in the IBA57 gene, which is responsible for the production of a protein that plays a crucial role in the function of mitochondria, the energy-producing structures within cells.

Symptoms of SPG74

The symptoms of SPG74 typically begin in childhood or adolescence and worsen over time. The main symptom is spasticity, or stiffness, in the legs. This can make it difficult to walk, and may cause a person to walk on the toes or have a wide-based gait. Other symptoms may include:

• Weakness in the legs
• Numbness or tingling in the legs
• Difficulty with balance and coordination
• Difficulty with fine motor skills, such as writing or buttoning clothes
• Bladder or bowel problems

Diagnosis of SPG74

SPG74 is diagnosed through genetic testing, which looks for mutations in the IBA57 gene. This may involve a blood test or a saliva test. A doctor may also perform a physical exam and neurological evaluation to assess a person's symptoms and determine if they may be caused by SPG74 or another condition.

NGS Genetic DNA Test Cost in India

DNA Labs India offers a Next-Generation Sequencing (NGS) genetic DNA test to detect mutations in the IBA57 gene associated with SPG74. The cost of this test is INR 20,000. The test involves sequencing the entire gene and analyzing the results to identify any mutations that may be present. This test can provide a definitive diagnosis of SPG74, which can help guide treatment and management of the condition.

Conclusion

SPG74 is a rare genetic disorder that can cause progressive muscle weakness and stiffness in the legs. It is caused by mutations in the IBA57 gene, which can be detected through genetic testing. DNA Labs India offers an NGS genetic DNA test to detect mutations in the IBA57 gene associated with SPG74 at a cost of INR 20,000. Early diagnosis of SPG74 can help guide treatment and management of the condition.

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 IBA57 Gene Spastic paraplegia type 74, autosomal recessive NGS Genetic DNA Test