Short Description

NGS genetic DNA test detecets for variant and mutation detection in CSF1R gene for Leukoencephalopathy, diffuse hereditary, with spheroids

PreTest Information

Clinical History of Patient who is going for CSF1R Gene Leukoencephalopathy, diffuse hereditary, with spheroids NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CSF1R Gene Leukoencephalopathy, diffuse hereditary, with spheroids

Detail Description

CSF1R Gene Leukoencephalopathy: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

CSF1R Gene Leukoencephalopathy, diffuse hereditary, with spheroids, also known as HDLS, is a rare genetic disorder that affects the brain and spinal cord. It is caused by mutations in the CSF1R gene, which provides instructions for making a protein that plays a role in the immune system and the growth and development of cells in the brain.

Symptoms of HDLS

HDLS typically starts in adulthood and is characterized by a progressive decline in cognitive function and movement. Symptoms may include:

• Memory loss
• Difficulty with language
• Impaired judgment
• Changes in behavior and personality
• Muscle stiffness and spasms
• Difficulty with balance and coordination

The severity and progression of symptoms can vary widely among affected individuals, even within the same family.

Diagnosis of HDLS

HDLS is diagnosed through a combination of clinical evaluation, imaging studies, and genetic testing. Brain MRI scans typically show abnormalities in the white matter of the brain, which can help distinguish HDLS from other neurological disorders.

Genetic testing can confirm the diagnosis by identifying mutations in the CSF1R gene. Next-generation sequencing (NGS) is a powerful genetic testing technology that can sequence large portions of the genome at once, making it an efficient and cost-effective option for diagnosing HDLS.

NGS Genetic DNA Test Cost

The cost of NGS genetic testing for HDLS varies depending on the specific test and the laboratory performing the analysis. In India, the cost of NGS testing for HDLS typically ranges from INR 20,000 to INR 50,000.

It is important to note that genetic testing for HDLS may not be covered by insurance, and patients should consult with their healthcare providers and insurance companies to determine coverage options and potential out-of-pocket costs.

Conclusion

HDLS is a rare genetic disorder that can be difficult to diagnose due to its variable symptoms and overlap with other neurological conditions. However, advances in genetic testing technology, such as NGS, have made it possible to identify the underlying genetic mutations that cause HDLS more efficiently and accurately. While the cost of genetic testing can be a barrier for some patients, it is an important step in obtaining an accurate diagnosis and accessing appropriate care and support.

At DNA Labs India, we offer a range of genetic testing services, including NGS testing for HDLS. Our team of expert geneticists and counselors can help guide patients and their families through the testing process and provide personalized support and guidance based on their individual needs and circumstances. Contact us today to learn more about our services and how we can help.