Short Description

NGS genetic DNA test detecets for variant and mutation detection in AP4M1 gene for SPG50

PreTest Information

Clinical History of Patient who is going for AP4M1 Gene SPG50 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with AP4M1 Gene SPG50

Detail Description

AP4M1 Gene SPG50 NGS Genetic DNA Test Cost INR 20,000: Symptoms and Diagnosis

DNA Labs India offers an NGS (Next Generation Sequencing) genetic DNA test for the AP4M1 gene associated with SPG50. This test is available at a cost of INR 20,000. In this blog, we will discuss the symptoms and diagnosis of SPG50 and how the AP4M1 gene test can help in early detection and treatment.

What is SPG50?

SPG50 is a rare genetic disorder that affects the nervous system. It is also known as hereditary spastic paraplegia with thin corpus callosum (HSP-TCC). This condition is characterized by progressive spasticity and weakness in the lower limbs, thinning of the corpus callosum (the band of nerve fibers that connects the two hemispheres of the brain), and developmental delays.

Symptoms of SPG50

The symptoms of SPG50 typically appear in infancy or early childhood and may include:

• Delayed motor milestones
• Stiffness in the legs
• Difficulty walking
• Speech delays
• Intellectual disability
• Seizures

As the condition progresses, individuals with SPG50 may experience muscle wasting and weakness in the upper limbs, as well as bladder and bowel dysfunction.

Diagnosis of SPG50

Diagnosis of SPG50 is typically made through a combination of clinical examination, brain MRI, and genetic testing. MRI can show thinning of the corpus callosum and other abnormalities in the brain. Genetic testing can confirm the presence of mutations in the AP4M1 gene.

AP4M1 Gene Test

The AP4M1 gene test offered by DNA Labs India uses NGS technology to analyze the DNA sequence of the AP4M1 gene and identify any mutations that may be present. This test can detect both known and unknown mutations in the gene, providing a comprehensive analysis of the genetic makeup of an individual.

Benefits of AP4M1 Gene Test

The AP4M1 gene test can help in the early detection and diagnosis of SPG50, allowing for early intervention and treatment. It can also provide information about the carrier status of individuals and their risk of passing on the condition to their children. Additionally, it can aid in genetic counseling and family planning decisions.

Conclusion

SPG50 is a rare genetic disorder that affects the nervous system and can cause significant disabilities. Early detection and diagnosis are crucial for effective treatment and management of the condition. The AP4M1 gene test offered by DNA Labs India can help in the early detection and diagnosis of SPG50, providing individuals and their families with valuable information about their genetic makeup and risk of developing the condition. The test is available at a cost of INR 20,000 and can be ordered online through the DNA Labs India website.