Short Description

NGS genetic DNA test detecets for variant and mutation detection in ALDH3A2 gene for Sjogren-Larsson syndrome

PreTest Information

Clinical History of Patient who is going for ALDH3A2 Gene Sjogren-Larsson syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ALDH3A2 Gene Sjogren-Larsson syndrome

Detail Description

Understanding ALDH3A2 Gene, Sjogren-Larsson Syndrome, NGS Genetic DNA Test, Symptoms, Diagnosis, and Cost

Sjogren-Larsson syndrome (SLS) is a rare genetic disorder that affects the skin, eyes, and central nervous system. The condition is caused by mutations in the ALDH3A2 gene, which encodes an enzyme called fatty aldehyde dehydrogenase. This enzyme is involved in the breakdown of fatty aldehydes, which are toxic byproducts of lipid metabolism.

What is ALDH3A2 Gene?

The ALDH3A2 gene is located on chromosome 17 and provides instructions for making the fatty aldehyde dehydrogenase enzyme. This enzyme is involved in the metabolism of long-chain fatty aldehydes, which are toxic compounds that can damage cells and tissues.

What is Sjogren-Larsson Syndrome?

Sjogren-Larsson syndrome (SLS) is a rare genetic disorder that affects the skin, eyes, and central nervous system. The condition is caused by mutations in the ALDH3A2 gene, which encodes an enzyme called fatty aldehyde dehydrogenase. This enzyme is involved in the breakdown of fatty aldehydes, which are toxic byproducts of lipid metabolism.

What are the Symptoms of Sjogren-Larsson Syndrome?

The symptoms of SLS typically appear in early childhood and include:

• Dry, scaly skin
• Intellectual disability
• Spasticity (stiff or rigid muscles)
• Speech problems
• Seizures
• Visual problems

How is Sjogren-Larsson Syndrome Diagnosed?

SLS is diagnosed through a combination of clinical evaluation, genetic testing, and specialized testing of skin samples. A doctor may suspect SLS based on the characteristic symptoms and physical findings, such as dry, scaly skin and spasticity. Genetic testing can confirm the presence of mutations in the ALDH3A2 gene, while skin biopsy can reveal abnormal accumulation of fatty aldehydes.

What is NGS Genetic DNA Test?

Next-generation sequencing (NGS) is a high-throughput technology that allows for the rapid sequencing of large amounts of DNA. NGS can be used for a wide range of applications, including genetic testing for rare diseases like SLS. NGS-based genetic testing can provide a comprehensive analysis of the entire genome or a targeted analysis of specific genes or regions.

What is the Cost of NGS Genetic DNA Test for Sjogren-Larsson Syndrome?

The cost of NGS-based genetic testing for SLS can vary depending on the specific test and the provider. In India, the cost of NGS genetic testing for SLS typically ranges from INR 20,000 to INR 50,000.

Conclusion

Sjogren-Larsson syndrome is a rare genetic disorder caused by mutations in the ALDH3A2 gene. The condition can cause a range of symptoms, including dry, scaly skin, intellectual disability, spasticity, speech problems, seizures, and visual problems. Diagnosis of SLS typically involves a combination of clinical evaluation, genetic testing, and specialized testing of skin samples. Next-generation sequencing (NGS) is a powerful technology that can be used for genetic testing for SLS, with costs ranging from INR 20,000 to INR 50,000 in India.

At DNA Labs India, we provide NGS-based genetic testing for Sjogren-Larsson syndrome and other rare diseases. Our state-of-the-art laboratory is equipped with the latest technology and staffed by experienced geneticists and technicians. Contact us today to learn more about our services.