Short Description

NGS genetic DNA test detecets for variant and mutation detection in WDR48 gene for SPG60, WDR48 related

PreTest Information

Clinical History of Patient who is going for WDR48 Gene SPG60, WDR48 related NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with WDR48 Gene SPG60, WDR48 related

Detail Description

WDR48 Gene SPG60: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

DNA Labs India is a leading provider of genetic testing services in the country. Among the many tests we offer is the NGS Genetic DNA Test for the WDR48 gene, which is associated with a rare neurological disorder called SPG60. In this blog, we will provide you with detailed information about the WDR48 gene, its symptoms, diagnosis, and the cost of the NGS Genetic DNA Test in India.

Understanding the WDR48 Gene

The WDR48 gene is responsible for producing a protein called p97, which plays a crucial role in various cellular processes, including DNA repair, protein degradation, and membrane fusion. Mutations in the WDR48 gene can lead to a rare neurological disorder called SPG60, which is characterized by progressive muscle stiffness and weakness in the lower limbs.

Symptoms of SPG60

The symptoms of SPG60 usually appear in early childhood or adolescence and progressively worsen over time. Some of the common symptoms include:

• Muscle stiffness and weakness in the lower limbs
• Difficulty walking and running
• Abnormal gait
• Foot drop
• Spasticity
• Urinary urgency and frequency

It is important to note that the severity and progression of symptoms can vary from person to person, even within the same family.

Diagnosis of SPG60

Diagnosis of SPG60 involves a combination of clinical evaluation, genetic testing, and imaging studies. A physical examination can reveal muscle weakness, spasticity, and other neurological abnormalities. Genetic testing can confirm the presence of mutations in the WDR48 gene. Imaging studies, such as magnetic resonance imaging (MRI), can help rule out other conditions that may have similar symptoms.

NGS Genetic DNA Test Cost in India

The NGS Genetic DNA Test for the WDR48 gene is a highly specialized test that requires advanced technology and expertise. At DNA Labs India, we offer this test at a cost of INR 20,000. The test involves sequencing the entire WDR48 gene to identify any mutations that may be present. The results of the test can help in the accurate diagnosis of SPG60 and can also provide valuable information for genetic counseling and family planning.

Conclusion

The WDR48 gene plays a crucial role in various cellular processes, and mutations in this gene can lead to a rare neurological disorder called SPG60. The symptoms of SPG60 can be debilitating and can significantly impact the quality of life. Diagnosis of SPG60 involves a combination of clinical evaluation, genetic testing, and imaging studies. The NGS Genetic DNA Test for the WDR48 gene is a highly specialized test that can accurately diagnose SPG60. At DNA Labs India, we offer this test at a cost of INR 20,000. If you or someone you know is experiencing symptoms of SPG60, we encourage you to speak to your healthcare provider or contact us to learn more about our testing services.

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 WDR48 Gene SPG60, WDR48 related NGS Genetic DNA Test